GeneReviews Authors

Margaret P Adam; Jerry Feldman; Ghayda M Mirzaa; Roberta A Pagon; Stephanie E Wallace; Lora JH Bean; Karen W Gripp; Anne Amemiya

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.

Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

GeneReviews^® [Internet].

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Abbott, Jessica; Atwal Clinic: Genomic & Personalized Medicine
- Molybdenum Cofactor Deficiency
Abdel-Rahman, Mohamed, MD, PhD; The Ohio State University
- BAP1 Tumor Predisposition Syndrome
Abdul-Rahman, Omar, MD; University of Mississippi Medical Center
- Nicolaides-Baraitser Syndrome
Abela, Lucia, MD, MSc; UCL Great Ormond Street Institute of Child Health
- DNAJC6 Parkinson Disease
- KMT2B-Related Dystonia
Abicht, Angela, MD; Medical Genetics Center
- Congenital Myasthenic Syndromes Overview
Abidi, Fatima E, MS, PhD; Greenwood Genetic Center
- RPS6KA3-Related Intellectual Disability
Aboussouan, Loutfi S, MD; Cleveland Clinic
- Alpha-1 Antitrypsin Deficiency
Abrams, Charles K, MD, PhD; University of Illinois at Chicago College of Medicine
- GJB1 Disorders: Charcot-Marie-Tooth Neuropathy (CMT1X) and Central Nervous System Phenotypes
Abrash, Elizabeth, BA; Mayo Clinic
- Dent Disease
Abu-Amero, Khaled K, PhD; King Saud University
- Primary Congenital Glaucoma
Abusrair, Ali, MD; King Faisal Specialist Hospital and Research Center
- Woodhouse-Sakati Syndrome
Achermann, John C, MB, MD, PhD; University College London
- NR0B1-Related Adrenal Hypoplasia Congenita
Ackerman, Kate Guernsey, MD; University of Rochester
- Congenital Diaphragmatic Hernia Overview
Adam, Margaret P, MD, MS; University of Washington
- Kabuki Syndrome
- Mowat-Wilson Syndrome
Adams, Cameron, MD; Cedars-Sinai Medical Center
- Myotonic Dystrophy Type 1
Adams, David R, MD, PhD; National Human Genome Research Institute
- Chediak-Higashi Syndrome
- Disorders of Intracellular Cobalamin Metabolism
- Free Sialic Acid Storage Disorders
Adams, Judith; University of Melbourne
- Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy
Adams, Paul, PhD; University of British Columbia
- Familial Paroxysmal Nonkinesigenic Dyskinesia
Adang, Laura, MD, PhD; The Children's Hospital of Philadelphia
- Multiple Sulfatase Deficiency
Addissie, Yonit A, BA; National Human Genome Research Institute
- Muenke Syndrome
Adler, Eric D, MD; University of California San Diego
- Danon Disease
Adsit, Jessica, MS; Legacy Center for Maternal Fetal Medicine
- COL1A1/2 Osteogenesis Imperfecta
Afzal, Ali R, MD, MSc, PhD; University of London
- ROR2-Related Robinow Syndrome
Agochukwu, Nneamaka B, BS; National Human Genome Research Institute
- Muenke Syndrome
Agosto, Caterina, MD; Padua University Hospital
- Primary Coenzyme Q10 Deficiency Overview
Ah Mew, Nicholas, MD; Children’s National Hospital
- Ornithine Transcarbamylase Deficiency
- Urea Cycle Disorders Overview
Ahearn, Mary Ellen, MS; Translational Genomics Research Institute
- Spinal Muscular Atrophy, X-Linked Infantile
Ahmad, Saya, BSc; University Medical Center Utrecht
- Von Hippel-Lindau Syndrome
Ahmed, Rebekah, PhD; University of Sydney
- MAPT-Related Frontotemporal Dementia
Ahnen, Dennis J, MD; Gastroenterology of the Rockies
- APC-Associated Polyposis Conditions
Ahn, Haejun, MD; Stanford University School of Medicine
- SCARB2-Related Action Myoclonus – Renal Failure Syndrome
Ahrens-Nicklas, Rebecca, MD, PhD; The Children's Hospital of Philadelphia
- Multiple Sulfatase Deficiency
Aicardi, Jean, MD; Hôpital Robert Debré
- Aicardi-Goutieres Syndrome
Aigner, Ludwig, PhD; Paracelsus Medical University Salzburg
- DCX-Related Disorders
Ait-El-Mkadem Saadi, Samira, PhD; Nice Hospital
- CHCHD10-Related Disorders
Akers, Amy, PhD; Angioma Alliance
- Familial Cerebral Cavernous Malformation
Akesson, Lauren S, MBBS (Hons), PhD; Victorian Clinical Genetics Services
- Fibrodysplasia Ossificans Progressiva
Akman, H Orhan, PhD; Columbia University Medical Center
- GBE1 Adult Polyglucosan Body Disease
Aksentijevich, Ivona, MD; National Human Genome Research Institute
- Adenosine Deaminase 2 Deficiency
- TNF Receptor-Associated Periodic Fever Syndrome
Al-Hashem, Amal, MD; Prince Sultan Military and Medical City
- Biotin-Thiamine-Responsive Basal Ganglia Disease
Al-Hassnan, Zuhair N, MD; King Faisal Specialist Hospital & Research Center
- ISCA2-Related Mitochondrial Disorder
Al-Shekaili, Hilal, PhD; University of British Columbia
- PLPBP Deficiency
Ala-Kokko, Leena M, MD, PhD; Connective Tissue Gene Tests
- Stickler Syndrome
Alasti, Fatemeh, PhD; University of Iowa
- Pendred Syndrome / Nonsyndromic Enlarged Vestibular Aqueduct
Albert, Jessica, PhD; National Human Genome Research Institute
- Snyder-Robinson Syndrome
Alders, Mariëlle, PhD; University of Amsterdam
- Long QT Syndrome Overview
Aleck, Kirk, MD; Phoenix Children's Hospital
- Fumarate Hydratase Deficiency
Alecu, Julian E; Boston Children's Hospital
- Spastic Paraplegia 15
Alexander, R Todd, MD, PhD; University of Alberta
- Hereditary Distal Renal Tubular Acidosis
Alfadhel, Majid, MD, MHSc; King Abdulaziz Medical City
- Asparagine Synthetase Deficiency
- Biotin-Thiamine-Responsive Basal Ganglia Disease
- EMC10-Related Neurodevelopmental Disorder
- SLC25A19-Related Thiamine Metabolism Dysfunction
Alkaya, Dilek Uludag, MD, PhD; Istanbul University
- Trichorhinophalangeal Syndrome
Alkhunaizi, Ebba, MD; North York General Hospital
- PPP1R12A-Related Urogenital and/or Brain Malformation Syndrome
- Warsaw Syndrome
Alkuraya, Fowzan S, MD; King Faisal Specialist Hospital and Research Center
- ATN1-Related Neurodevelopmental Disorder
- NKX6-2-Related Disorder
- Warsaw Syndrome
- Woodhouse-Sakati Syndrome
Allanson, Judith E, MD; Children's Hospital of Eastern Ontario
- Noonan Syndrome
- Smith-Magenis Syndrome
Allen, Albert J, MD, PhD; Eli Lilly Laboratories, Inc
- Smith-Magenis Syndrome
Allenspach, Eric J, MD, PhD; University of Washington
- X-Linked Severe Combined Immunodeficiency
Almannai, Mohammed, MD; King Abdulaziz Medical City
- El-Hattab-Alkuraya Syndrome
- FARS2 Deficiency
- FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion Syndrome
- MELAS
- MPV17-Related Hepatocerebral Mitochondrial DNA Maintenance Defect
Alter, Blanche P, MD, MPH; National Cancer Institute
- Fanconi Anemia
Ambartsumyan, Lusine, MD; Children's Hospital
- Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome Overview
Amendola, Maria, MD; UPMC Children's Hospital of Pittsburgh
- Pediatric Genetic Cholestatic Liver Disease Overview
Amiel, Jeanne, MD, PhD; Institut Imagine
- ANKRD17-Related Neurodevelopmental Syndrome
- MN1 C-Terminal Truncation Syndrome
Amos, Christopher I, PhD; Baylor College of Medicine
- Peutz-Jeghers Syndrome
Amrom, Dina, MD; Montreal Neurological Hospital and Institute
- SCARB2-Related Action Myoclonus – Renal Failure Syndrome
Amstutz, Christoph, MD, PhD; Luzerner Kantonsspital
- VCAN-Related Vitreoretinopathy
Amudhavalli, Shivarajan Manickavasagam, MD; Children's Mercy Hospitals and Clinics
- Ayme-Gripp Syndrome
Andermann, Eva, MD, PhD; Montreal Neurological Hospital and Institute
- Progressive Myoclonus Epilepsy, Lafora Type
- SCARB2-Related Action Myoclonus – Renal Failure Syndrome
Andermann, Frederick, MD; Montreal Neurological Hospital and Institute
- SCARB2-Related Action Myoclonus – Renal Failure Syndrome
Anderson, David G, MBBCh; University of the Witwatersrand
- Huntington Disease-Like 2
Anderson, Karl E, MD; University of Texas Medical Branch
- Variegate Porphyria
Anderson, Matthew W, MD, PhD; BloodCenter of Wisconsin
- ANKRD26-Related Thrombocytopenia
Andreu, Antonio L, MD, PhD; Hospital Universitari Vall d'Hebron
- Glycogen Storage Disease Type V
Andrews, Caroline V, MSc; Children's Hospital Boston
- Congenital Fibrosis of the Extraocular Muscles Overview
- Duane Syndrome
Angelini, Corrado, MD; University of Padova
- Calpainopathy
Angione, Katie, MS; University of Colorado
- CDKL5 Deficiency Disorder
- SLC6A1-Related Neurodevelopmental Disorder
Anikster, Yair, MD; Safra Children's Hospital
- Costeff Syndrome
Antonellis, Anthony, PhD; University of Michigan Medical School
- GARS-Associated Axonal Neuropathy
Anttonen, Anna-Kaisa, MD, PhD; University of Helsinki
- Marinesco-Sjogren Syndrome
Anyane-Yeboa, Kwame, MD; Columbia University Irving Medical Center
- GNB1 Encephalopathy
Aoki, Masashi, MD, PhD; Tohoku University School of Medicine
- Dysferlinopathy
Appelman-Dijkstra, Natasha, MD, PhD; Leiden University Medical Center
- SOST-Related Sclerosing Bone Dysplasias
Applegarth, Derek A, PhD; University of British Columbia
- Nonketotic Hyperglycinemia
Apse, Kira, ScM; Beth Israel Deaconess Medical Center
- Polymicrogyria Overview
Arbour, Laura T, MD; University of British Columbia
- Hyaline Fibromatosis Syndrome
Ardinger, Holly H, MD; GeneReviews
- Pitt-Hopkins Syndrome
Arenas, Joaquin, PhD; Hospital 12 de Octubre Research Institute
- Glycogen Storage Disease Type V
Arias, Manuel, MD, PhD; Complexo Hospitalario Universitario
- Spinocerebellar Ataxia Type 36
Arkilo, Dimitrios, MD; Minnesota Epilepsy Group
- Maternal 15q Duplication Syndrome
Arlt, Wiebke, DSc, MD; University of Birmingham
- Cytochrome P450 Oxidoreductase Deficiency
Arnhold, Ivo Jorge Prado, MD; Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
- PROP1-Related Combined Pituitary Hormone Deficiency
Arora, Veronica, MBBS, MD, MS; Sir Ganga Ram Hospital
- Fructose-1,6-Bisphosphatase Deficiency
- Primrose Syndrome
Arriaga, Moises A, MBA, MD; Louisiana State University Health Sciences Center
- Usher Syndrome Type I
- Usher Syndrome Type II
Arts, Heleen, PhD; McMaster University
- Cranioectodermal Dysplasia
Arzel-Hézode, Marianne, MD; Assistance Publique – Hôpitaux de Paris
- Hypokalemic Periodic Paralysis
Ashizawa, Tetsuo, MD; Houston Methodist Research Institute
- Friedreich Ataxia
- Spinocerebellar Ataxia Type 1
- Spinocerebellar Ataxia Type 10
Assia Batzir, Nurit, MD; Schneider Children's Medical Center of Israel
- White-Sutton Syndrome
Asthagiri, Ashok, MD; University of Virginia
- LZTR1- and SMARCB1-Related Schwannomatosis
Astigarraga, Itziar, MD, PhD; Hospital Universitario Cruces
- Familial Hemophagocytic Lymphohistiocytosis
Astrin, Kenneth H, PhD; The Mount Sinai School of Medicine
- Fabry Disease
Atwal, Paldeep, MD; Atwal Clinic: Genomic & Personalized Medicine
- Molybdenum Cofactor Deficiency
Aubertin, Gudrun, MD, MSc; Children's and Women's Health Centre of British Columbia
- Peters Plus Syndrome
Auer-Grumbach, Michaela, MD; Medical University Graz
- BSCL2-Related Neurologic Disorders / Seipinopathy
Au, Kit Sing, PhD; McGovern Medical School
- Tuberous Sclerosis Complex
Au, Margaret G, MS; Massachusetts General Hospital
- Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency
Au, Ping-Yee Billie, MD, PhD; Clinical Geneticist, Alberta Children's Hospital, University of Calgary
- Au-Kline Syndrome
Austin, Eric D, MD, MSc; Vanderbilt University Medical Center
- Heritable Pulmonary Arterial Hypertension Overview
Austin, Stephanie, MA, MS; Amicus Therapeutics, Inc
- Glycogen Storage Disease Type I
- Phosphorylase Kinase Deficiency
Autti, Taina, MD, PhD; University of Helsinki
- Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy
Avner, Ellis D, MD; Children's Hospital Health System of Wisconsin
- Autosomal Recessive Polycystic Kidney Disease – PKHD1
Axeen, Erika, MD; University of Virginia
- GNAO1-Related Disorder
Axell, Lisen, MD; University of Colorado Anschutz Medical Center
- APC-Associated Polyposis Conditions
Axelrod, Felicia B, MD; NYU Medical Center
- NTRK1 Congenital Insensitivity to Pain with Anhidrosis
Ayhan, Fatma, BS; University of Florida College of Medicine
- Spinocerebellar Ataxia Type 8
Aylsworth, Arthur S, MD; GC University of North Carolina
- Hypochondroplasia
Ayres, Lachlan, MB ChB; University Hospitals Dorset
- Hereditary Fructose Intolerance
Azaiez, Hela, MS, PhD; University of Iowa Hospitals and Clinics
- GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss
- OTOF-Related Deafness
Azzedine, Hamid, PhD; Academic Medical Center
- SH3TC2-Related Hereditary Motor and Sensory Neuropathy

Baas, Frank, MD, PhD; Leiden University Medical Center
- EXOSC3 Pontocerebellar Hypoplasia
- TSEN54 Pontocerebellar Hypoplasia
Babcock, Holly E, MS; National Human Genome Research Institute
- Osteoglophonic Dysplasia
Babovic-Vuksanovic, Dusica, MD; Mayo Clinic
- FGFR1-Related Hartsfield Syndrome
- LZTR1- and SMARCB1-Related Schwannomatosis
Bachmann, André Stephan, MS, PhD; Michigan State University
- Bachmann-Bupp Syndrome
Bacino, Carlos A, MD; Baylor College of Medicine
- ROR2-Related Robinow Syndrome
Badens, Catherine, PharmD, PhD; Aix-Marseille University
- Trichohepatoenteric Syndrome
Bader, Benedikt, MD; Ludwig-Maximilians-Universität
- VPS13A Disease
Badiger, Vaishnavi Ashok, MSc; Kasturba Medical College, Manipal
- LPIN2-Related Majeed Syndrome
Badminton, Michael N, PhD; University Hospital of Wales
- Acute Intermittent Porphyria
Bahi-Buisson, Nadia, MD, PhD; Université de Paris
- Tubulinopathies Overview
Bailey, Laurie, MS; Cincinnati Children's Hospital Medical Center
- Pompe Disease
Bain, Jennifer, MD, PhD; Columbia University Irving Medical Center
- HNRNPH2-Related Neurodevelopmental Disorder
Baker, Duncan, MSc; Sheffield Children's NHS Foundation Trust
- TNXB-Related Classical-Like Ehlers-Danlos Syndrome
Baker, Maria J, PhD; Penn State Hershey Cancer Institute
- Peutz-Jeghers Syndrome
Baker, Peter, MD; Children's Hospital Colorado
- Hereditary Fructose Intolerance
Balasubramanian, Meena, MBBS, MD; University of Sheffield
- ASXL3-Related Disorder
- HNRNPU-Related Neurodevelopmental Disorder
Balasubramanian, Ravikumar, MD, PhD; Massachusetts General Hospital
- Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency
Baldassari, Sara, PhD; Paris Brain Institute
- DEPDC5-Related Epilepsy
Balduini, Carlo L, MD; University of Pavia
- MYH9-Related Disease
Bale, Sherri J, PhD; GeneDx, Inc
- Autosomal Recessive Congenital Ichthyosis
Bali, Deeksha S, PhD; Duke University Medical Center
- Glycogen Storage Disease Type I
- Phosphorylase Kinase Deficiency
Balint, Bettina, MD; UCL Queen Square Institute of Neurology
- Hereditary Hyperekplexia Overview
Ballhausen, Diana, MD; Lausanne University Hospital
- Achondrogenesis Type 1B
- Atelosteogenesis Type 2
- Diastrophic Dysplasia
- SLC26A2-Related Multiple Epiphyseal Dysplasia
Ballout, Rami A, MD; National Institutes of Health
- Xq28 Duplication Syndrome, Int22h1/Int22h2 Mediated
Baloh, Robert H, MD, PhD; Cedars Sinai Medical Center
- TARDBP-Related Amyotrophic Lateral Sclerosis-Frontotemporal Dementia
Balwani, Manisha, MD, MS; Icahn School of Medicine at Mount Sinai
- Congenital Erythropoietic Porphyria
- Erythropoietic Protoporphyria, Autosomal Recessive
- X-Linked Protoporphyria
Banka, Siddharth, MD, PhD; University of Manchester
- G6PC3 Deficiency
Bannwarth, Sylvie, PhD; Nice Hospital
- CHCHD10-Related Disorders
Baple, Emma L, BSc, MBBS, PhD; University of Exeter Medical School
- HYAL2 Deficiency
- PI4KA-Related Disorder
- Troyer Syndrome
Bar-Aluma, Bat-El, MD; Tel Aviv University
- Familial Dysautonomia
Baradaran-Heravi, Alireza, MD, PhD; University of British Columbia
- Schimke Immunoosseous Dysplasia
Baralle, Diana, MBBS, MD; University of Southampton
- PURA-Related Neurodevelopmental Disorders
- TRIO-Related Neurodevelopmental Disorder
Barbaro, Michela, PhD; Karolinska University Hospital
- Acute Intermittent Porphyria
Barbarot, Sébastien, MD, PhD; Service de Génétique médicale – CHU
- Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis
Barbot, Clara, MD, PhD; Universidade do Porto
- Ataxia with Oculomotor Apraxia Type 1
Baris, Hagit N, MD; The Genetics Clinic - Rambam Health Care Campus
- GLYT1 Encephalopathy
Barrett, Timothy, MBBS, PhD; University of Birmingham
- Alstrom Syndrome
- WFS1 Spectrum Disorder
Barrios, Emily S; Children's National Medical Center
- Succinic Semialdehyde Dehydrogenase Deficiency
Barr, Marci L, ScM; Geisinger Health System
- Lysosomal Acid Lipase Deficiency
Barron, Karyl, MD; National Institute of Allergy and Infectious Diseases
- Adenosine Deaminase 2 Deficiency
Barry, Brenda J, MS; Harvard Medical School
- Duane Syndrome
Barth, Peter G, MD, PhD; University of Amsterdam
- EXOSC3 Pontocerebellar Hypoplasia
- TSEN54 Pontocerebellar Hypoplasia
Barton, James C, MD; Southern Iron Disorders Center
- HFE-Related Hemochromatosis
Basel-Salmon, Lina, MD, PhD; Rabin Medical Center
- Kaufman Oculocerebrofacial Syndrome
Basel, Donald, MD; Medical College of Wisconsin
- COL1A1/2 Osteogenesis Imperfecta
Baskin, Berivan, PhD; Uppsala University Hospital
- Cherubism
Bason, Lynn D, MS; Children's Hospital of Philadelphia
- Alagille Syndrome
Basson, Craig T, MD, PhD; Novartis Institutes for BioMedical Research
- Holt-Oram Syndrome
Bassuk, Alexander G, MD, PhD; University of Iowa
- PRICKLE1-Related Disorders
Bauer, Andrew J, MD; Children’s Hospital of Philadelphia
- DICER1 Tumor Predisposition
Baulac, Stéphanie, PhD; Institut du Cerveau et de la Moelle épinière
- DEPDC5-Related Epilepsy
Baumann, Matthias, MD; Medical University of Innsbruck
- FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome
Baumbach-Reardon, Lisa, PhD; Dr Kiran C Patel College of Medicine - Tampa Bay Campus
- Spinal Muscular Atrophy, X-Linked Infantile
Bayat, Allan; Danish Epilepsy Center
- GRIA2-Related Neurodevelopmental Disorder
Bayrak-Toydemir, Pinar, MD, PhD; University of Utah
- Capillary Malformation-Arteriovenous Malformation Syndrome
Beales, Philip L, BSc, MD; University College London
- Bardet-Biedl Syndrome Overview
Bean, Lora JH, PhD; PerkinElmer Genomics, Inc
- Epimerase Deficiency Galactosemia
- Mowat-Wilson Syndrome
Beara-Lasic, Lada, MD; New York University School of Medicine
- Dent Disease
Bearden, David R, MD; University of Rochester School of Medicine
- KCNT1-Related Epilepsy
Beaudet, Arthur L, MD; Baylor College of Medicine
- ACTG2 Visceral Myopathy
Beaudin, Marie, MD; Université Laval
- SYNE1 Deficiency
Bech-Hansen, N Torben, PhD; University of Calgary
- X-Linked Congenital Stationary Night Blindness
Becker, Michael A, MD; University of Chicago Medical Center
- Phosphoribosylpyrophosphate Synthetase Superactivity
Beckwith, J Bruce, MD; Loma Linda University
- Beckwith-Wiedemann Syndrome
Begtrup, Amber H, PhD; GeneDx, Inc
- EPB42-Related Hereditary Spherocytosis
Behne, Robert; Boston Children's Hospital
- AP-4-Associated Hereditary Spastic Paraplegia
Beighton, Peter H, MD, PhD; University of Cape Town
- SOST-Related Sclerosing Bone Dysplasias
Beitel, Lenore K, PhD; McGill University
- Androgen Insensitivity Syndrome
Bejjani, Bassem A, MD; Washington State University
- Primary Congenital Glaucoma
Bellini, Giulia, PhD; Second University of Naples
- KCNQ2-Related Disorders
- KCNQ3-Related Disorders
Bellus, Gary A, MD, PhD; Geisinger Health System
- Hypochondroplasia
Belmont, John W, MD, PhD; Baylor College of Medicine
- CHD7 Disorder
Ben Harouch, Shani, MD; Galilee Medical Center
- INSR-Related Severe Insulin Resistance Syndrome
Ben Yaou, Rabah, MD; Centre de Recherche en Myologie
- Emery-Dreifuss Muscular Dystrophy
Ben Zeev, Bruria, MD; Sheba Medical Center, Sackler School of Medicine
- MECR-Related Neurologic Disorder
Ben-Zeev, Bruria, MD; Sheba Medical Center
- TECPR2-Related Hereditary Sensory and Autonomic Neuropathy with Intellectual Disability
Bendahhou, Saïd, PhD; Université Nice Sophia Antipolis
- Hypokalemic Periodic Paralysis
Bender, MA, MD, PhD; University of Washington
- Sickle Cell Disease
Benke, Tim A, MD, PhD; University of Colorado School of Medicine
- CDKL5 Deficiency Disorder
Bennett, James, MD, PhD; University of Washington
- IMAGe Syndrome
Bennett, Michael J, PhD; Children's Hospital of Philadelphia
- Carnitine Palmitoyltransferase 1A Deficiency
Bennett, Robin L, MS; University of Washington
- HFE-Related Hemochromatosis
Bennett, Steffany AL, PhD; University of Ottawa
- ASAH1-Related Disorders
Bens, Susanne, MD; Ulm University & Ulm University Medical Center
- Rhabdoid Tumor Predisposition Syndrome
Bentivegna, Angela, PhD; University of Milano-Bicocca
- Juvenile Hemochromatosis
Bento, Celeste, PhD; Centro Hospitalar e Universitário de Coimbra
- Primary Familial and Congenital Polycythemia
Bercovitch, Lionel G, MD; Brown Medical School
- Pseudoxanthoma Elasticum
Berglöf, Anna, PhD, VMD; Karolinska Institutet
- X-Linked Agammaglobulinemia
Berkovic, Samuel F, MD; Epilepsy Research Institute
- Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy
Bernard, Geneviève, MD, MSc; McGill University Health Center
- POLR3-Related Leukodystrophy
Bernier, Raphael, PhD; University of Washington
- CHD8-Related Neurodevelopmental Disorder with Overgrowth
Berry-Kravis, Elizabeth M, MD, PhD; Rush University Medical Center
- Congenital Central Hypoventilation Syndrome
- FMR1 Disorders
Berry, Gerard T, MD; Boston Children's Hospital
- Classic Galactosemia and Clinical Variant Galactosemia
Bertaux, Karine, PhD; La Timone Children’s Hospital
- Trichohepatoenteric Syndrome
Bertini, Enrico S, MD; Ospedale Bambino Gesu
- ALS2-Related Disorder
Bertola, Francesca, PhD; ASST Monza – San Gerardo Hospital
- Juvenile Hemochromatosis
Betensky, Brian; Weill Medical College of Cornell University
- 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
Bhagwat, Pranjali K; Baylor College of Medicine
- ACTG2 Visceral Myopathy
Bharath, Rose Dawn; National Institute of Mental Health and Neurosciences
- Isolated Sulfite Oxidase Deficiency
Bhatia, Gita, PhD; University of Texs Medical Branch
- Canavan Disease
Bhatia, Sameer, MBBS, MD; Sir Ganga Ram Hospital
- Fructose-1,6-Bisphosphatase Deficiency
Bhattacharjee, Arin, PhD; University of Buffalo
- KCNT1-Related Epilepsy
Bhavani, Gandham SriLakshmi, MSc, PhD; Manipal Academy of Higher Education
- EXOC6B-Related Spondyloepimetaphyseal Dysplasia with Joint Laxity
- Multicentric Osteolysis Nodulosis and Arthropathy
- Progressive Pseudorheumatoid Dysplasia
Bhoj, Elizabeth, MD, PhD; Children's Hospital of Philadelphia
- Bryant-Li-Bhoj Neurodevelopmental Syndrome
Biaggioni, Italo, MD; Vanderbilt University Medical Center
- Dopamine Beta-Hydroxylase Deficiency
Biancheri, Roberta, MD, PhD; Great Ormond Street Hospital
- Hypomyelination and Congenital Cataract
Bidichandani, Sanjay I, MBBS, PhD; University of Oklahoma Health Sciences Center
- Friedreich Ataxia
Biesecker, Leslie G, MD; National Institutes of Health
- GLI3-Related Pallister-Hall Syndrome
- Greig Cephalopolysyndactyly Syndrome
- Proteus Syndrome
- SLC25A19-Related Thiamine Metabolism Dysfunction
Bijarnia-Mahay, Sunita, MBBS; Sir Ganga Ram Hospital
- Fructose-1,6-Bisphosphatase Deficiency
Bikker, Hennie, PhD; University of Amsterdam
- Long QT Syndrome Overview
- Trichorhinophalangeal Syndrome
Binder, Gerhard, MD; University Children's Hospital
- SHOX Deficiency Disorders
Bindu, Parayil Sankaran, MD; Children's Hospital at Westmead
- Huppke-Brendel Syndrome
- Isolated Sulfite Oxidase Deficiency
Bird, Thomas D, MD; University of Washington
- ADCY5 Dyskinesia
- Alzheimer Disease Overview
- Charcot-Marie-Tooth Hereditary Neuropathy Overview
- GDAP1-Related Hereditary Motor and Sensory Neuropathy
- GJB1 Disorders: Charcot-Marie-Tooth Neuropathy (CMT1X) and Central Nervous System Phenotypes
- Hereditary Ataxia Overview
- Hereditary Neuropathy with Liability to Pressure Palsies
- Myotonic Dystrophy Type 1
- SAMD9L Ataxia-Pancytopenia Syndrome
- Spinocerebellar Ataxia Type 14
- Spinocerebellar Ataxia Type 7
Bissell, D Montgomery, MD; University of California San Francisco
- Hereditary Coproporphyria
Bjork, Bryan Cary, PhD; Harvard Medical School
- IRF6-Related Disorders
Blackstone, Craig, MD, PhD; Massachusetts General Hospital
- Spastic Paraplegia 15
Blake, Kim, MD; Dalhousie University
- CHD7 Disorder
Blau, Nenad, PhD; University Children's Hospital
- Aromatic L-Amino Acid Decarboxylase Deficiency
Bleesing, Jack JH, MD, PhD; Cincinnati Children's Hospital
- Autoimmune Lymphoproliferative Syndrome
Bley, Annette E, MD; University Children's Hospital
- Canavan Disease
Bleyer, Anthony J, MD, MS; Wake Forest School of Medicine
- Autosomal Dominant Tubulointerstitial Kidney Disease -- MUC1
- Autosomal Dominant Tubulointerstitial Kidney Disease -- REN
- Autosomal Dominant Tubulointerstitial Kidney Disease -- UMOD
Bloise, Raffaella, MD; ICS Maugeri
- CACNA1C-Related Disorders
- Catecholaminergic Polymorphic Ventricular Tachycardia
Bloomer, Joseph, MD; University of Alabama at Birmingham
- Erythropoietic Protoporphyria, Autosomal Recessive
- X-Linked Protoporphyria
Bober, Michael B, MD, PhD; Nemours Children’s Health
- Chondrodysplasia Punctata 1, X-Linked
- Hypochondroplasia
- Microcephalic Osteodysplastic Primordial Dwarfism Type II
- Rhizomelic Chondrodysplasia Punctata Type 1
- RNU4atac-opathy
Boccuto, Luigi, MD; Greenwood Genetic Center
- Phelan-McDermid Syndrome
Bodell, Adria, MS; Beth Israel Deaconess Medical Center
- FLNA Deficiency
- Polymicrogyria Overview
Boehm, Corinne D, MS; GC Johns Hopkins Hospital
- X-Linked Adrenoleukodystrophy
Boerkoel, Cornelius F, MD, PhD; University of British Columbia
- NSDHL-Related Disorders
- Schimke Immunoosseous Dysplasia
- Snyder-Robinson Syndrome
- Spinocerebellar Ataxia with Axonal Neuropathy, Autosomal Recessive
- UNC80 Deficiency
Boespflug-Tanguy, Odile, MD, PhD; UMR INSERM 676 / Hôpital Robert Debré
- ALS2-Related Disorder
- Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter
Bohlega, Saeed A, MD; King Faisal Specialist Hospital and Research Center
- Woodhouse-Sakati Syndrome
Bojanowski, Christine, MD; Tulane University School of Medicine
- Cystic Fibrosis
Bolduc, Véronique, PhD; National Institute of Neurological Disorders and Stroke
- Collagen VI-Related Dystrophies
Boman, Helge, MD, PhD; Haukeland University Hospital
- ADAMTSL4-Related Eye Disorders
- Cold-Induced Sweating Syndrome including Crisponi Syndrome
- Congenital Stromal Corneal Dystrophy
Bomont, Pascale, PhD; Institute for Neurosciences of Montpellier
- GAN-Related Neurodegeneration
Bonafé, Luisa, MD, PhD; Lausanne University Hospital
- Achondrogenesis Type 1B
- Atelosteogenesis Type 2
- Diastrophic Dysplasia
- SLC26A2-Related Multiple Epiphyseal Dysplasia
Bonkovsky, Herbert, MD; Wake Forest University School of Medicine
- Familial Porphyria Cutanea Tarda
- Hepatoerythropoietic Porphyria
Bonne, Gisèle, PhD; Centre de Recherche en Myologie
- Emery-Dreifuss Muscular Dystrophy
Bontoux, Luc, MD; Centre Hospitalier Universitaire d'Angers
- SH3TC2-Related Hereditary Motor and Sensory Neuropathy
Boon, Elles MJ, PhD; Leiden University Medical Center
- CADASIL
Boon, Laurence M, MD, PhD; Cliniques universitaires Saint-Luc
- TEK-Related Venous Malformations
Boonstra, Nils-Erik, MD; Haukeland University Hospital
- ADAMTSL4-Related Eye Disorders
Booth, Kevin, PhD; Indiana School of Medicine
- GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss
Borck, Guntram, MD, PhD; University of Ulm
- Kaufman Oculocerebrofacial Syndrome
Bornfeld, Norbert, MD; University of Essen
- Retinoblastoma
Borroni, Barbara, MD; University of Brescia
- Spinocerebellar Ataxia Type 38
Bostwick, Bret, MD; Baylor College of Medicine
- CDK13-Related Disorder
- PORCN-Related Developmental Disorders
Bouchard, Jean-Pierre, MD; Laval University
- ARSACS
- SYNE1 Deficiency
Boulinguiez, Alexis, PhD; Centre de Recherche en Myologie
- Oculopharyngeal Muscular Dystrophy
Bourdeaut, Franck, MD, PhD; Paris Sciences et Lettres Research University
- Rhabdoid Tumor Predisposition Syndrome
Bourgeois, Patrice, PhD; La Timone Children’s Hospital
- Trichohepatoenteric Syndrome
Boussion, Simon, MD; CHU de Lille
- Thrombocytopenia Absent Radius Syndrome
Bowdin, Sarah, BMed, MSc; Addenbrooke's Hospital
- Cherubism
Bower, Matthew A, MS; University of Minnesota Medical Center, Fairview
- PAX2-Related Disorder
Boyce, Alison M, MD; National Institute of Dental and Craniofacial Research
- Fibrous Dysplasia / McCune-Albright Syndrome
Boycott, Kym M, MD, PhD; Children's Hospital of Eastern Ontario
- Mandibulofacial Dysostosis with Microcephaly
- Microcephaly-Capillary Malformation Syndrome
- THOC6 Intellectual Disability Syndrome
- VLDLR Cerebellar Hypoplasia
- X-Linked Congenital Stationary Night Blindness
Boyd, Charles D, PhD; John A Burns School of Medicine, University of Hawaii
- Pseudoxanthoma Elasticum
Boyd, Kerry E, MD; Hamilton Health Services
- Smith-Magenis Syndrome
Brabbing-Goldstein, Dana, MD; Rabin Medical Center
- Kaufman Oculocerebrofacial Syndrome
Bradbury, Kimberley, BA, MA, MBBS; Great Ormond Street Hospital for Children
- BCL11A-Related Intellectual Disability
Braden, Ruth, PhD; University of Melbourne
- FOXP1 Syndrome
Brais, Bernard, M Phil, MD, PhD; McGill University
- ARSACS
- GAA-FGF14-Related Ataxia
- Oculopharyngeal Muscular Dystrophy
Bramswig, Nuria C, MD; Institute of Human Genetics
- UNC80 Deficiency
Brandi, Maria Luisa, MD, PhD; Italian Foundation for Research on Bone Diseases
- Multiple Endocrine Neoplasia Type 1
Brand, Randall, MD; University of Pittsburgh
- MUTYH Polyposis
Brandt, Vicky L; Baylor College of Medicine
- MECP2 Disorders
- Spinocerebellar Ataxia Type 1
Brashear, Allison, MD; Wake Forest School of Medicine
- ATP1A3-Related Neurologic Disorders
Braverman, Nancy E, MD, MS; McGill University
- Chondrodysplasia Punctata 1, X-Linked
- Rhizomelic Chondrodysplasia Punctata Type 1
- Zellweger Spectrum Disorder
Bredrup, Cecilie, MD, PhD; Haukeland University Hospital
- Congenital Stromal Corneal Dystrophy
Bree, Alanna F, MD; Dermatology Specialists of Houston
- TP63-Related Disorders
Brennan, Christine, PhD; University of Colorado
- Smith-Magenis Syndrome
Bresin, Elena, MD; Istituto di Ricerche Farmacologiche Mario Negri–IRCCS
- Genetic Atypical Hemolytic-Uremic Syndrome
Bressman, Susan B, MD; Columbia University Medical Center
- DYT1 Early-Onset Isolated Dystonia
Breuning, Martijn H, MD, PhD; Leiden University Medical Center
- CADASIL
Brewer, Eileen D, MD; Baylor College of Medicine
- Lowe Syndrome
Brice, Alexis, MD; Hôpital Pitié-Salpêtrière
- Parkin Type of Early-Onset Parkinson Disease
- Spastic Paraplegia 11
Brice, Glen W, RGN BSc (Hons); St George's, University of London
- Lymphedema-Distichiasis Syndrome
- Milroy Disease
Briere, Lauren, MS; Massachusetts General Hospital
- GNAO1-Related Disorder
Briggs, Michael D, PhD; Newcastle University
- COMP-Related Pseudoachondroplasia
- Multiple Epiphyseal Dysplasia, Dominant
Brilliant, Murray H, PhD; University of Wisconsin School of Medicine
- Oculocutaneous Albinism Type 4
Brisson, Jean-Denis, MD; Sherbrooke University
- Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum
Broadbridge, Elizabeth, BS; National Human Genome Research Institute
- RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies
Brock, Pamela, MS; The Ohio State University Comprehensive Cancer Center
- Multiple Endocrine Neoplasia Type 4
Brock, Stefanie, MD; Universitair Ziekenhuis Brussel
- PAFAH1B1-Related Lissencephaly / Subcortical Band Heterotopia
Bronicki, Lucas, PhD; Cincinnati Children's Hospital Medical Center
- WAS-Related Disorders
Brooks, Brian P, MD, PhD; National Eye Institute
- Oculocutaneous Albinism and Ocular Albinism Overview
Brosh, Robert M, PhD; National Institute on Aging/NIH
- Warsaw Syndrome
Brower, Cheryl L, MSPH, RN; Puget Sound Blood Center
- Hemophilia A
- Hemophilia B
Brown, Jeremy M, MD; Addenbrooke's Hospital
- CHMP2B Frontotemporal Dementia
Brown, W Ted, MD, PhD; Institute for Basic Research in Developmental Disabilities
- Hutchinson-Gilford Progeria Syndrome
Bruckner, Anna L, MD; University of Colorado School of Medicine
- Epidermolysis Bullosa Simplex
Bruel, Ange-Line, PhD; University of Burgundy
- Oral-Facial-Digital Syndrome Type I
Brugada, Josep, MD, PhD; University of Barcelona
- Brugada Syndrome
Brugada, Pedro, MD, PhD; Free University of Brussels
- Brugada Syndrome
Brugada, Ramon, MD, PhD; University of Girona
- Brugada Syndrome
Brunetti-Pierri, Nicola, MD; University of Naples "Federico II"
- Chondrodysplasia Punctata 1, X-Linked
- Myhre Syndrome
Brunkow, Mary E, PhD; Institute for Systems Biology
- SOST-Related Sclerosing Bone Dysplasias
Brunner, Han, MD, PhD; Radboud University Medical Center
- Autosomal Dominant Robinow Syndrome
Bruno, Claudio, MD, PhD; Gaslini Institute
- Hypomyelination and Congenital Cataract
Brunzell, John D, MD; University of Washington School of Medicine
- Familial Lipoprotein Lipase Deficiency
Brusco, Alfredo, PhD; University of Turin
- Spinocerebellar Ataxia Type 28
- Spinocerebellar Ataxia Type 38
Brussino, Alessandro, MD; University of Turin
- Spinocerebellar Ataxia Type 28
Bryant, Laura, PhD; Children's Hospital of Philadelphia
- Bryant-Li-Bhoj Neurodevelopmental Syndrome
Bryceson, Yenan, PhD; Karolinska Institutet
- Familial Hemophagocytic Lymphohistiocytosis
Brzezinski, Jack, MD, PhD; Hospital for Sick Children
- Wilms Tumor Predisposition
Brüggemann, Norbert, MD; University of Lübeck
- Parkin Type of Early-Onset Parkinson Disease
Buck, Cassandra, MS; Massachusetts General Hospital
- Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency
Buckley, Michael Francis, MB ChB, PhD; Prince of Wales Hospital
- Hepatic Veno-Occlusive Disease with Immunodeficiency
Bull, Laura N, PhD; University of California, San Francisco
- ATP8B1 Deficiency
Bupp, Caleb, MD; Spectrum Health
- Bachmann-Bupp Syndrome
Burgmaier, Kathrin, MD; University of Cologne
- Autosomal Recessive Polycystic Kidney Disease – PKHD1
Burkardt, Deepika, DO; National Human Genome Research Institute
- HIST1H1E Syndrome
Burke, Wylie, MD, PhD; University of Washington
- BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer
Burnett, John R, MB ChB, MD, PhD; University of Western Australia
- Abetalipoproteinemia
- APOB-Related Familial Hypobetalipoproteinemia
- Chylomicron Retention Disease
- Familial Combined Hypolipidemia
- Familial Lipoprotein Lipase Deficiency
- Tangier Disease
Burrage, Lindsay, MD, PhD; Baylor College of Medicine
- TANGO2 Deficiency
Burr, Amanda, MS; Casey Eye Institute / Oregon Health & Science University
- RPE65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy
Burrell, T Lindsey, PhD; Emory University School of Medicine
- 3q29 Recurrent Deletion
Burt, Randall W, MD; Huntsman Cancer Institute
- APC-Associated Polyposis Conditions
Bushby, Katharine Mary, MB ChB, MD; University of Newcastle upon Tyne
- Collagen VI-Related Dystrophies
Busra, Aynekin, PhD; University College London
- WARS2 Deficiency
Butler-Browne, Gillian, PhD; Centre de Recherche en Myologie
- Oculopharyngeal Muscular Dystrophy
Byers, Peter H, MD; University of Washington Medical Center
- COL1A1/2 Osteogenesis Imperfecta
- Vascular Ehlers-Danlos Syndrome
Böckenhauer, Detlef, MD, PhD; University Hospitals Leuven
- X-Linked Hypophosphatemia
Bönnemann, Carsten G, MD; National Institute of Neurological Disorders and Stroke
- Collagen VI-Related Dystrophies

Cabalza, Jessica L; George Washington University School of Medicine
- Succinic Semialdehyde Dehydrogenase Deficiency
Cabanillas, Maria E, MD; University of Texas MD Anderson Cancer Center
- CDC73-Related Disorders
Caggana, Michele, ScD; Wadsworth Center - New York State Department of Health
- Krabbe Disease
Calame, Daniel, MD, PhD; Baylor College of Medicine
- ENTPD1-Related Neurodevelopmental Disorder
Caldovic, Ljubica, PhD; Children's National Hospital
- Ornithine Transcarbamylase Deficiency
Cali, Elisa, MD; UCL Queen Square Institute of Neurology
- Riboflavin Transporter Deficiency
Callewaert, Bert L, MD, PhD; Ghent University Hospital
- Arterial Tortuosity Syndrome
- Congenital Contractural Arachnodactyly
- ELN-Related Cutis Laxa
- LTBP4-Related Cutis Laxa
Calvert, Guy, DPhil; Dup15q Alliance
- Maternal 15q Duplication Syndrome
Camacho, Jose A, MD; University of California, Irvine
- Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Camaschella, Clara, MD; Istituto Scientifico San Raffaele
- TFR2-Related Hemochromatosis
Campeau, Philippe M, MD; Sainte-Justine Hospital
- KAT6B Disorders
- Spondylometaphyseal Dysplasia, Corner Fracture Type
- TBC1D24-Related Disorders
Campuzano, Oscar, PhD; University of Girona
- Brugada Syndrome
Cao, Antonio, MD; Consiglio Nazionale delle Ricerche
- Alpha-Thalassemia
- Beta-Thalassemia
Capece, Tara; University of Pittsburgh
- ZAP70-Related Combined Immunodeficiency
Capp, Philip K; George Washington University School of Medicine
- Succinic Semialdehyde Dehydrogenase Deficiency
Caprioli, Jessica, Biol Sci D; IRCCS – Istituto di Ricerche Farmacologiche Mario Negri
- Genetic Atypical Hemolytic-Uremic Syndrome
Caputi, Caterina, MD; Sapienza Università di Roma
- PRICKLE1-Related Disorders
Carey, Catherine, MD; Torbay Hospital
- Alstrom Syndrome
Cario, Holger, MD; University Medical Center Ulm
- Primary Familial and Congenital Polycythemia
Carlberg, Katie, MD; University of Washington
- Sickle Cell Disease
Carlo, Maria I, MD; Memorial Sloan Kettering Cancer Center
- BAP1 Tumor Predisposition Syndrome
Carmignac, Virginie, PhD; Université de Bourgogne
- Salih Myopathy
Caron, Nicholas S, PhD; University of British Columbia
- Huntington Disease
Carr, Ann, MS; Westat
- DICER1 Tumor Predisposition
Carrillo, Nuria, MD; National Human Genome Research Institute
- Disorders of Intracellular Cobalamin Metabolism
- GNE Myopathy
- Propionic Acidemia
Carson, Vincent J, MD; Clinic for Special Children
- Maple Syrup Urine Disease
Carter, Melissa T, MD, MSc; The Children’s Hospital of Eastern Ontario
- Microcephaly-Capillary Malformation Syndrome
- NOTCH3-Related Lateral Meningocele Syndrome
Carvalho, Luciani Renata, MD, PhD; Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
- PROP1-Related Combined Pituitary Hormone Deficiency
Carvill, Gemma, PhD; Northwestern University
- CHD2-Related Neurodevelopmental Disorders
- KCNT1-Related Epilepsy
Casari, Giorgio, PhD; San Raffaele University
- Spastic Paraplegia 7
Casey, Hannah L, BS; University of Chicago
- Spinocerebellar Ataxia Type 6
Cassidy, Suzanne B, MD; Children's Hospital of Philadelphia
- Prader-Willi Syndrome
Cathey, Sara S, MD; Greenwood Genetic Center
- GNPTAB-Related Disorders
Caudill, Marissa; University of Connecticut Health Center
- Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency
Cavallin, Mara, MD; Paris Descartes University
- Tubulinopathies Overview
Cebulla, Colleen, MD, PhD; The Ohio State University
- BAP1 Tumor Predisposition Syndrome
Cecchi, Alana C, MS; University of Texas Health Science Center
- Heritable Thoracic Aortic Disease Overview
Cederbaum, Stephen, MD; UCLA Medical Center
- Arginase Deficiency
Chaix, Charlène; La Timone Children’s Hospital
- Trichohepatoenteric Syndrome
Chamberlain, Stormy, PhD; University of Connecticut Health Center
- Maternal 15q Duplication Syndrome
Chamova, Teodora, MD, PhD; Medical University of Sofia
- CTDP1-Related Congenital Cataracts, Facial Dysmorphism, and Neuropathy
Chander, Varuna, MS; Baylor College of Medicine
- Xia-Gibbs Syndrome
Chandra, Sharat, MD; Cincinnati Children's Hospital Medical Center
- WAS-Related Disorders
Chang, Bernard, MD; Harvard Medical School
- Polymicrogyria Overview
Chang, Irene J, MD; Seattle Children's Hospital Seattle, Washington
- Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
Chanprasert, Sirisak, MD; Baylor College of Medicine
- TK2-Related Mitochondrial DNA Maintenance Defect, Myopathic Form
Chansky, Howard A, MD; University of Washington
- Hereditary Multiple Osteochondromas
Chan, Sophelia HS, MD; University of Hong Kong
- CHKB-Related Muscular Dystrophy
Chao, Daniel L, MD, PhD; Shiley Eye Institute / UCSD
- RPE65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy
Chapman, Kimberly A, MD, PhD; Children's National Health System
- Urea Cycle Disorders Overview
Charles, Jane, MD; Medical University of South Carolina
- Smith-Magenis Syndrome
Chaussenot, Annabelle, MD; Nice Hospital
- CHCHD10-Related Disorders
Chelban, Viorica, MD; University College London Institute of Neurology
- NKX6-2-Related Disorder
Chen, Dong-Hui, MD, PhD; University of Washington Medical Center
- SAMD9L Ataxia-Pancytopenia Syndrome
- Spinocerebellar Ataxia Type 14
Cheng, Edith, MD, MS; University of Washington School of Medicine
- Cystic Fibrosis
Cheng, Shirley SW, MD; Hong Kong Children's Hospital
- CTNNB1 Neurodevelopmental Disorder
- FAM111A-Related Skeletal Dysplasias
Chen, I-Ping, DDS, MS; UConn Health
- Craniometaphyseal Dysplasia, Autosomal Dominant
Chen, Karin, MD; University of Washington
- X-Linked Severe Combined Immunodeficiency
Chen, Marcus, MD; National Heart, Lung, and Blood Institute - NIH
- Alkaptonuria
Chen, Ming Hui, MD, MMSc; Boston Children's Hospital
- FLNA Deficiency
Chen, Xin, PhD; University of Texas Southwestern Medical Center
- Aspartylglucosaminuria
Chen, Yuan-Tsong, MD, PhD; Duke University Medical Center
- Glycogen Storage Disease Type I
Chen, Zhongbo, BM BCh, MA; UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery
- Spinocerebellar Ataxia Type 11
Cheung, Sau Wai, MBA, PhD; Baylor College of Medicine
- Xq28 Duplication Syndrome, Int22h1/Int22h2 Mediated
Chew, Ben H, MD, MSc; University of Columbia
- Primary Hyperoxaluria Type 1
Chinnery, Patrick F, BMedSci, MBBS, PhD; University of Cambridge
- Hereditary Myopathy with Early Respiratory Failure
- Leber Hereditary Optic Neuropathy
- Neuroferritinopathy
- POLG-Related Disorders
- Primary Mitochondrial Disorders Overview
Chiplunkar, Shwetha, MBBS; National Institute of Mental Health & Neurosciences
- Huppke-Brendel Syndrome
Chiquet, Brett, DDS, PhD; UTHealth School of Dentistry at Houston
- Nonsyndromic Tooth Agenesis Overview
Chitayat, David, MD; Mount Sinai Hospital
- Autosomal Dominant Robinow Syndrome
- PPP1R12A-Related Urogenital and/or Brain Malformation Syndrome
- Warsaw Syndrome
Chmiel, James F, MD; Case Western Reserve University School of Medicine
- Cystic Fibrosis
Chopra, Maya, MBBS; Boston Children's Hospital
- ANKRD17-Related Neurodevelopmental Syndrome
Chou, Stella T, MD; Children's Hospital of Philadelphia
- GATA1-Related Cytopenia
Chrestian, Nicolas, MD; CHU Laval–CHU de Québec
- Hereditary Neuropathy with Liability to Pressure Palsies
Christiaans, Imke, MD, PhD; University Medical Center Groningen
- Long QT Syndrome Overview
Christodoulou, John, MBBS, PhD; Murdoch Children's Research Institute
- Fumarate Hydratase Deficiency
- MECP2 Disorders
- Phosphoribosylpyrophosphate Synthetase Deficiency
- Phosphoribosylpyrophosphate Synthetase Superactivity
- Squalene Synthase Deficiency
Chrzanowska, Krystyna H, MD, PhD; The Children's Memorial Health Institute
- Nijmegen Breakage Syndrome
Chudley, Albert E, MD; University of Manitoba
- FREM1 Autosomal Recessive Disorders
- Ritscher-Schinzel Syndrome
Chung, Brian HY, MD; University of Hong Kong
- CTNNB1 Neurodevelopmental Disorder
- MN1 C-Terminal Truncation Syndrome
Chung, Wendy K, MD, PhD; Columbia University
- 16p11.2 Recurrent Deletion
- Okur-Chung Neurodevelopmental Syndrome
- PACS1 Neurodevelopmental Disorder
- PPP2R5D-Related Neurodevelopmental Disorder
Churpek, Jane E, MD, MS; University of Wisconsin School of Medicine and Public Health
- DDX41-Associated Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia
Ciapaite, Jolita, PhD; University Medical Center Utrecht
- PLPBP Deficiency
Cimino, Theora, BS; University of California San Francisco
- Hereditary Coproporphyria
Cirino, Allison L, MS; Brigham and Women's Hospital
- Hypertrophic Cardiomyopathy Overview
Clark, Dinah M, MS; Children's Hospital of Philadelphia
- Cornelia de Lange Syndrome
Clarke, Lorne A, MD; University of British Columbia
- Mucopolysaccharidosis Type I
Clarke, Shoa L, MD, PhD; Stanford University School of Medicine
- Familial Hypercholesterolemia
Clayton, Peter T, MD; UCL Great Ormond Street Institute of Child Health
- Hypermanganesemia with Dystonia 1
- SLC39A14 Deficiency
Cleary, John Douglas, PhD; University of Florida
- Spinocerebellar Ataxia Type 8
Clericuzio, Carol, MD; University of New Mexico Health Sciences Center
- Poikiloderma with Neutropenia
Cleveland, Don W, PhD; University of California San Diego
- ALS2-Related Disorder
Clinton, Catherine, MS; Boston Children's Hospital
- Diamond-Blackfan Anemia
Coe, Bradley P, PhD; University of Washington School of Medicine
- DYRK1A Syndrome
Coelho, Teresa, MD, PhD; Centro Hospitalar Universitário do Porto
- LAMA2 Muscular Dystrophy
Cogal, Andrea G, BS; Mayo Clinic
- Dent Disease
- Primary Hyperoxaluria Type 1
Cohen, Bruce H, MD; Northeast Ohio Medical University
- POLG-Related Disorders
Cohn, Daniel H, PhD; Cedars-Sinai Medical Center
- COMP-Related Pseudoachondroplasia
Colding-Jørgensen, Eskild, MD; University of Copenhagen
- Myotonia Congenita
Cole, Trevor RP, MB ChB; Birmingham Women's Hospital
- Sotos Syndrome
Collins, Debra L, MS; University of Kansas Medical Center
- Von Hippel-Lindau Syndrome
Collins, Francis S, MD, PhD; National Institutes of Health
- Hutchinson-Gilford Progeria Syndrome
Collins, Michael T, MD; National Institute of Dental and Craniofacial Research
- Fibrous Dysplasia / McCune-Albright Syndrome
- Hyperphosphatemic Familial Tumoral Calcinosis
Colombo, Sophie, MS, PhD; Columbia University Irving Medical Center
- GNB1 Encephalopathy
Coman, David, MBBS; Queensland Children’s Hospital
- Fumarate Hydratase Deficiency
- Squalene Synthase Deficiency
Conant, Alex, BS; Children’s National Health System
- Pelizaeus-Merzbacher-Like Disease 1
- TUBB4A-Related Leukodystrophy
Concannon, Patrick J, PhD; University of Virginia
- Nijmegen Breakage Syndrome
Concolino, Daniela, MD; University "Magna Graecia"
- Poikiloderma with Neutropenia
Conley, Mary Ellen, MD; University of Tennessee
- X-Linked Agammaglobulinemia
Connell, Fiona; Guy's Hospital
- Milroy Disease
Connor, Jessica A, MS; Counsyl, Inc
- EPB42-Related Hereditary Spherocytosis
- Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
Conta, Jessie, MS; Seattle Children's Hospital
- Mowat-Wilson Syndrome
Conway, Gerard S, MD; University College London
- Perrault Syndrome
Conway, Robert, MD; Wayne State University
- PIK3CA-Related Overgrowth Spectrum
Cook Shukla, Lola, MS; Indiana University School of Medicine
- Parkinson Disease Overview
Cook, Edwin H, MD; University of Illinois at Chicago
- 3q29 Recurrent Deletion
- Maternal 15q Duplication Syndrome
Cook, Jared F, MA; Wake Forest School of Medicine
- ATP1A3-Related Neurologic Disorders
Cooper, Edward C, MD, PhD; Baylor College of Medicine
- KCNQ2-Related Disorders
- KCNQ3-Related Disorders
Cooper, Megan, MD, PhD; Washington University
- Sphingosine Phosphate Lyase Insufficiency Syndrome
Copeland, William C, PhD; National Institute of Environmental Health Sciences
- POLG-Related Disorders
Coppola, Antonietta, MD, PhD; Federico II University of Naples
- DYNC1H1-Related Disorders
Coppola, Giangennaro, MD; University of Salerno
- KCNQ2-Related Disorders
- KCNQ3-Related Disorders
Coppola, Giovanni, MD; University of California Los Angeles
- Primary Familial Brain Calcification
Coppola, Stephanie, BS; Jefferson Medical College
- Krabbe Disease
Corces, Victor, PhD; Emory University School of Medicine
- CTCF-Related Disorder
Cormier-Daire, Valérie, MD, PhD; Paris Cité University
- Geleophysic Dysplasia
- Weill-Marchesani Syndrome
Correa, Fernanda Azevedo, MD; Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
- PROP1-Related Combined Pituitary Hormone Deficiency
Cortese, Andrea, MD, PhD; University College London
- RFC1 CANVAS / Spectrum Disorder
Coryell, Jason, MS; Oregon Health and Science University
- Pantothenate Kinase-Associated Neurodegeneration
Coucke, Paul, MD, PhD; Ghent University Hospital
- Arterial Tortuosity Syndrome
Coughlin, Curtis, MS; University of Colorado School of Medicine
- Nonketotic Hyperglycinemia
Couillard-Despres, Sebastien, PhD; Paracelsus Medical University Salzburg
- DCX-Related Disorders
Coulter-Mackie, Marion B, PhD; British Columbia's Children's and Women's Hospital
- Primary Hyperoxaluria Type 1
Coutinho, Paula, MD, PhD; Universidade do Porto
- Ataxia with Oculomotor Apraxia Type 1
Cowan, Jason, MS; University of Miami Miller School of Medicine
- LMNA-Related Dilated Cardiomyopathy
Cox, Diane W, PhD; University of Alberta
- Alpha-1 Antitrypsin Deficiency
- Wilson Disease
Cragun, Deborah, MS; University of Tampa
- Cytochrome P450 Oxidoreductase Deficiency
Craigen, William J, MD, PhD; Baylor College of Medicine
- Mitochondrial DNA Maintenance Defects Overview
- MPV17-Related Hepatocerebral Mitochondrial DNA Maintenance Defect
Crombez, Eric A, MD; Ultragenyx Pharmaceutical Inc
- Arginase Deficiency
Crosby, Andrew H, BSc, PhD; University of Exeter Medical School
- HYAL2 Deficiency
- PI4KA-Related Disorder
- Troyer Syndrome
Crowley, Leon, MSc; King's College London
- TARDBP-Related Amyotrophic Lateral Sclerosis-Frontotemporal Dementia
Crowley, William F, MD; Massachusetts General Hospital
- Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency
Crow, Yanick J, BMedSci, MBBS, PhD; Central Manchester Foundation Trust University Hospitals
- Aicardi-Goutieres Syndrome
Cruts, Marc, PhD; University of Antwerp
- C9orf72-Related Amyotrophic Lateral Sclerosis and/or Frontotemporal Dementia
Cruz Corchado, Johnny; University of Iowa
- C3 Glomerulopathy
Cruz, Vincent, MD, MS; DDC Clinic – Center for Special Needs Children
- GM3 Synthase Deficiency
Cubells, Joseph F, MD, PhD; Emory University School of Medicine
- 3q29 Recurrent Deletion
Cudrici, Cornelia, MD; National Heart, Lung and Blood Institute
- TNF Receptor-Associated Periodic Fever Syndrome
Culver, Julie O Bars, MS; Fred Hutchinson Cancer Research Center
- BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer
Culver, Kathy, MS; Sutter Pacific Medical Foundation/California Pacific Medical Center
- Simpson-Golabi-Behmel Syndrome Type 1
Cunniff, Christopher M, MD; Weill Cornell Medical College
- Bloom Syndrome
- Smith-Lemli-Opitz Syndrome
Cunningham, Lea, MD; National Cancer Institute
- RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies
Cunningham, Michael L, MD, PhD; University of Washington Schools of Medicine and Dentistry
- Saethre-Chotzen Syndrome
Curiel, Julian, BS; Children’s National Health System
- TUBB4A-Related Leukodystrophy
Cutting, Garry R, MD; Johns Hopkins University
- Cystic Fibrosis
- Thanatophoric Dysplasia
- Treacher Collins Syndrome

D'Adamo, Maria Cristina, PhD; University of Malta
- Episodic Ataxia Type 1
D'Andrea, Alan, MD; Dana Farber Cancer Institute
- Fanconi Anemia
Da Silva, Jorge Diogo, MD, PhD; Santo Antonio University Hospital Center
- Ellis-van Creveld Syndrome
Dafsari, Hormos Salimi, MD; University of Cologne
- DYNC1H1-Related Disorders
- EPG5-Related Disorder
Dagli, Aditi I, MD; Orlando Health Arnold Palmer Hospital
- Angelman Syndrome
- Glycogen Storage Disease Type III
- Glycogen Storage Disease Type VI
Daiger, Stephen P, PhD; University of Texas Health Science Center
- Nonsyndromic Retinitis Pigmentosa Overview
Dai, Hongzheng, PhD; Baylor College of Medicine
- FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion Syndrome
- MPV17-Related Hepatocerebral Mitochondrial DNA Maintenance Defect
Dalal, Ashwin, MD; Centre for DNA Fingerprinting and Diagnostics
- Progressive Pseudorheumatoid Dysplasia
Dale, David C, MD; University of Washington Medical Center
- ELANE-Related Neutropenia
Daley, Shane M, MD; Mayo Clinic
- Jervell and Lange-Nielsen Syndrome
Dalton, Joline C, MS; Institute of Human Genetics
- Myotonic Dystrophy Type 2
- Spinocerebellar Ataxia Type 8
Daly, Mary B, MD, PhD; Fox Chase Cancer Center
- BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer
Danek, Adrian, MD; Ludwig-Maximilians-Universität
- McLeod Neuroacanthocytosis Syndrome
- VPS13A Disease
Danzi, Matt, PhD; University of Miami Miller School of Medicine
- GAA-FGF14-Related Ataxia
Darras, Basil T, MD; Boston Children's Hospital / Harvard Medical School
- Dystrophinopathies
Das, Soma, PhD; University of Chicago
- PAFAH1B1-Related Lissencephaly / Subcortical Band Heterotopia
- X-Linked Myotubular Myopathy
Davenport, Sandra LH, MD; Sensory Genetics and Neurodevelopment
- CHD7 Disorder
Davies, Alexandra K, PhD; University of Cambridge
- AP-4-Associated Hereditary Spastic Paraplegia
Davis, Joie; NIH
- STAT3 Hyper IgE Syndrome
- X-Linked Severe Combined Immunodeficiency
Day, John W, MD, PhD; Stanford University
- Myotonic Dystrophy Type 2
- Spinocerebellar Ataxia Type 8
De Baere, Elfride, MD, PhD; Ghent University Hospital
- Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome
de Boer, Irene, MD; Leiden University Medical Center
- Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations
de Brouwer, Arjan PM, PhD; Radboud University Nijmegen Medical Center
- CLPB Deficiency
- Feingold Syndrome 1
- Phosphoribosylpyrophosphate Synthetase Deficiency
- Phosphoribosylpyrophosphate Synthetase Superactivity
- SERAC1 Deficiency
De Camilli, Pietro, PhD; Yale University School of Medicine
- VPS13A Disease
de Castro, Luis F, PhD; National Institute of Dental and Craniofacial Research/NIH
- Fibrous Dysplasia / McCune-Albright Syndrome
De Castro, Mauricio, MD; Keesler Air Force Base
- Multiple Sulfatase Deficiency
De Gobbi, Marco, MD, PhD; University of Torino
- TFR2-Related Hemochromatosis
de Graaff, Laura CG, MD, PhD; Erasmus Medical Center
- PROP1-Related Combined Pituitary Hormone Deficiency
de Koning, Tom J, MD, PhD; Lund University
- Serine Deficiency Disorders
de la Morena, M Teresa, MD; Seattle Children's Hospital
- X-Linked Hyper IgM Syndrome
de Leeuw, Nicole, PhD; Radboud University Medical Center
- Kleefstra Syndrome
De Leon, Deborah, MS; Columbia University Medical Center
- DYT1 Early-Onset Isolated Dystonia
De León, Diva D, MD; University of Pennsylvania
- Permanent Neonatal Diabetes Mellitus
De Paepe, Anne, MD, PhD; Ghent University Hospital
- Arterial Tortuosity Syndrome
- Classic Ehlers-Danlos Syndrome
- EFEMP2-Related Cutis Laxa
de Valles-Ibáñez, Guillem, BSc, MSc, PhD; University of Otago
- GNB5-Related Neurodevelopmental Disorder
de Vernejoul, Marie-Christine, MD, PhD; Hopital Lariboisiere
- CLCN7-Related Osteopetrosis
De Vivo, Darryl, MD; Columbia University
- Glucose Transporter Type 1 Deficiency Syndrome
- Pyruvate Carboxylase Deficiency
De Voer, Richarda M, PhD; Radboud University Medical Center
- NTHL1 Tumor Syndrome
de Vries, Bert BA, MD, PhD; Radboud University Medical Center
- 15q13.3 Recurrent Deletion
- DYRK1A Syndrome
- Gabriele-de Vries Syndrome
- Koolen-de Vries Syndrome
- TRIO-Related Neurodevelopmental Disorder
- WAC-Related Intellectual Disability
Deardorff, Matthew A, MD, PhD; Children's Hospital Los Angeles
- Coffin-Siris Syndrome
- Cornelia de Lange Syndrome
- IMAGe Syndrome
- WDR26-Related Intellectual Disability
DeFelice, Magee, MD; Nemours Children's Health
- RNU4atac-opathy
Dehner, Louis P; Washington University Medical Center
- DICER1 Tumor Predisposition
del Gaudio, Daniela, PhD; University of Chicago
- Maturity-Onset Diabetes of the Young Overview
Delatycki, Martin B, MBBS, PhD; Murdoch Childrens Research Institute
- Friedreich Ataxia
Delettre-Cribaillet, Cécile, PhD; INM Hôpital Saint Eloi
- Optic Atrophy Type 1
Delgado, Lisvania, BS; University of Texas - Medical Branch
- Canavan Disease
Dellefave-Castillo, Lisa, MS; University of Chicago
- Amyotrophic Lateral Sclerosis Overview
- Arrhythmogenic Right Ventricular Cardiomyopathy Overview
Dell, Katherine MacRae, MD; Case Western Reserve University School of Medicine
- Autosomal Recessive Polycystic Kidney Disease – PKHD1
Demain, Leigh AM, PhD; University of Manchester and Manchester University NHS Foundation Trust
- Perrault Syndrome
Demarest, Scott, MD; University of Colorado
- CDKL5 Deficiency Disorder
- SLC6A1-Related Neurodevelopmental Disorder
Demirdas, Serwet, MD, PhD; Erasmus Medical Center
- TNXB-Related Classical-Like Ehlers-Danlos Syndrome
Dempsey, Melissa A, MS; Parkview Health
- Allan-Herndon-Dudley Syndrome
- Chondrodysplasia Punctata 2, X-Linked
Demuth, Ilja, PhD; Charité – Universitätsmedizin Berlin
- Nijmegen Breakage Syndrome
Deneubourg, Celine, MSc; King's College London
- EPG5-Related Disorder
Depienne, Christel, PhD; Hôpital Pitié-Salpêtrière
- CLCN2-Related Leukoencephalopathy
- Congenital Mirror Movements
- Spastic Paraplegia 4
Der Kaloustian, Vazken M, MD; McGill University
- Hidrotic Ectodermal Dysplasia 2
Derks, Terry GJ, MD, PhD; University Medical Center Groningen
- Glycogen Storage Disease Type III
Derry, W Brent, PhD; The Hospital for Sick Children
- Familial Cerebral Cavernous Malformation
Desai, Jigar, PhD; Boston Children's Hospital
- Congenital Fibrosis of the Extraocular Muscles Overview
Desnick, Robert J, MD, PhD; Icahn School of Medicine at Mount Sinai
- Congenital Erythropoietic Porphyria
- Erythropoietic Protoporphyria, Autosomal Recessive
- Fabry Disease
- HEXA Disorders
- X-Linked Protoporphyria
Deuitch, Natalie, MS; National Human Genome Research Institute
- RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies
- TNF Receptor-Associated Periodic Fever Syndrome
Deutschländer, Angela B, MD; Mayo Clinic
- DYT-GNAL
- VPS35-Related Parkinson Disease
Devinsky, Orrin, MD; New York University Langone Medical Center
- Maternal 15q Duplication Syndrome
Dgany, Orly, PhD; Felsenstein Medical Research Center, Beilinson Campus
- Alpha-Thalassemia
- Congenital Dyserythropoietic Anemia Type I
Dhamija, Radhika, MD; Mayo Clinic
- FGFR1-Related Hartsfield Syndrome
- LZTR1- and SMARCB1-Related Schwannomatosis
Di Donato, Nataliya, MD, PhD; Universitätsklinikum Carl Gustav Carus
- Baraitser-Winter Cerebrofrontofacial Syndrome
Di Giovanni, Giuseppe, PhD; Istituto Euro-Mediterraneo di Scienza e Tecnologia
- Episodic Ataxia Type 1
Di Gregorio, Eleonora, PhD; Città della Salute e della Scienza University Hospital
- Spinocerebellar Ataxia Type 38
Di Meo, Ivano, PhD; IRCCS Foundation Carlo Besta Neurological Institute
- Ethylmalonic Encephalopathy
Di Paola, Jorge, MD; Washington University School of Medicine
- ETV6 Thrombocytopenia and Predisposition to Leukemia
Dias, Cristina, MD, PhD; King's College London
- BCL11A-Related Intellectual Disability
Dias, Renuka, PhD; Birmingham Women's and Children's Hospital
- WFS1 Spectrum Disorder
Diaz, George A, MD, PhD; Icahn School of Medicine at Mount Sinai
- Thiamine-Responsive Megaloblastic Anemia Syndrome
Dib-Hajj, Sulayman D, PhD; Yale University School of Medicine
- SCN9A Neuropathic Pain Syndromes
Dichgans, Martin, MD, PhD; Ludwig-Maximilians-Universität München
- CADASIL
Dickerson, Kathryn E, MD; University of Texas Southwestern Medical Center
- Monosomy 7 Predisposition Syndromes Overview
Dietz, Harry C, MD; Johns Hopkins University School of Medicine
- FBN1-Related Marfan Syndrome
- Loeys-Dietz Syndrome
DiGiovanna, John J, MD; National Cancer Institute
- Xeroderma Pigmentosum
Digweed, Martin, PhD; Charité – Universitätsmedizin Berlin
- Nijmegen Breakage Syndrome
DiMauro, Salvatore, MD; Columbia University Medical Center
- MELAS
- MERRF
- Mitochondrial DNA Deletion Syndromes
Dimmock, David P, MD; Children's Hospital of Wisconsin
- Deoxyguanosine Kinase Deficiency
Dindot, Scott, PhD; Texas A&M University
- Maternal 15q Duplication Syndrome
Diop-Bove, Ndeye, PhD; Albert Einstein College of Medicine
- Hereditary Folate Malabsorption
Dirksen, Robert T, PhD; University of Rochester School of Medicine and Dentistry
- Malignant Hyperthermia Susceptibility
DiStasio, Andrew T, PhD; Nationwide Children's Hospital
- ATP7A-Related Copper Transport Disorders
Disteche, Christine M, PhD; University of Washington
- Y Chromosome Infertility
DiStefano, Charlotte, PhD; University of California Los Angeles
- Maternal 15q Duplication Syndrome
Dobson-Stone, Carol, DPhil; University of Sydney
- McLeod Neuroacanthocytosis Syndrome
- VPS13A Disease
Dobyns, William B, MD; University of Minnesota
- ATP6V0A2-Related Cutis Laxa
- Encephalocraniocutaneous Lipomatosis
- PAFAH1B1-Related Lissencephaly / Subcortical Band Heterotopia
- PIK3CA-Related Overgrowth Spectrum
- Polymicrogyria Overview
Docherty, Louise Esther, BSc (Hons), PhD; Salisbury NHS Foundation Trust
- Diabetes Mellitus, 6q24-Related Transient Neonatal
Doherty, Dan, MD, PhD; University of Washington
- MN1 C-Terminal Truncation Syndrome
Doherty, Emily S, MD; Carilion Clinic
- Muenke Syndrome
Doimo, Mara, PhD; University of Padova
- Primary Coenzyme Q10 Deficiency Overview
Dome, Jeffrey S, MD, PhD; Children's National Health System
- Wilms Tumor Predisposition
Dominik, Natalia, BSc, MSc; UCL Queen Square Institute of Neurology
- Riboflavin Transporter Deficiency
Dong, Hui-Jia; University of Florida College of Medicine
- Angelman Syndrome
Donkervoort, Sandra, MS; National Institute of Neurological Disorders and Stroke
- Amyotrophic Lateral Sclerosis Overview
- Collagen VI-Related Dystrophies
- Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia
Donnai, Dian, MD; University of Manchester and St Mary's Hospital
- Donnai-Barrow Syndrome
Doros, Leslie, MD; Children's National Medical Center
- DICER1 Tumor Predisposition
Dorsey, Adrianne M; Children's National Medical Center
- Succinic Semialdehyde Dehydrogenase Deficiency
Dotti, Maria Teresa, MD; University of Siena
- Cerebrotendinous Xanthomatosis
Douthitt Seibel, Gabrielle, ARNP, MN, MPH; Seattle Children's Hospital
- Sickle Cell Disease
Douzgou, Sofia, MD, PhD; Haukeland University Hospital
- PPP2R1A-Related Neurodevelopmental Disorder
Dowling, James J, MD, PhD; Hospital for Sick Children
- X-Linked Myotubular Myopathy
Downs, Jenny, MSc, PhD; Telethon Kids Institute
- CDKL5 Deficiency Disorder
Drillings, Ian; Children's National Medical Center
- Succinic Semialdehyde Dehydrogenase Deficiency
Driscoll, Daniel J, MD, PhD; University of Florida College of Medicine
- Angelman Syndrome
- Prader-Willi Syndrome
Drunat, Séverine, PharmD, PhD; APHP-Robert Debré University Hospital
- ASPM Primary Microcephaly
- Baraitser-Winter Cerebrofrontofacial Syndrome
- WDR62 Primary Microcephaly
du Souich, Christèle, MSc; University of British Columbia
- NSDHL-Related Disorders
- UNC80 Deficiency
Dua Puri, Ratna, MD; Sir Ganga Ram Hospital
- Primrose Syndrome
Dubois, Anna, BSc, MBChB; Royal Victoria Infirmary
- CYLD Cutaneous Syndrome
Dugan, Stefanie N, MS; BloodCenter of Wisconsin
- ANKRD26-Related Thrombocytopenia
Duis, Jessica, MD, MS; Children's Hospital Colorado
- Schinzel-Giedion Syndrome
- SETBP1 Haploinsufficiency Disorder
Duker, Angela, MS; Nemours Children’s Health
- Microcephalic Osteodysplastic Primordial Dwarfism Type II
- Rhizomelic Chondrodysplasia Punctata Type 1
- RNU4atac-opathy
Duley, John A, PhD; University of Queensland and Mater Research
- Phosphoribosylpyrophosphate Synthetase Deficiency
- Phosphoribosylpyrophosphate Synthetase Superactivity
Dulski, Jaroslaw, MD, PhD; Medical University of Gdansk
- CSF1R-Related Disorder
- DCTN1-Related Neurodegeneration
- VPS35-Related Parkinson Disease
Dumitrescu, Alexandra M, MD, PhD; University of Chicago Medical Center
- Allan-Herndon-Dudley Syndrome
Dunn, Clinton P, MD; University of Washington
- X-Linked Hyper IgM Syndrome
Dunoyer, Margaux, MD; Assistance Publique-Hôpitaux de Paris
- Congenital Mirror Movements
Dunwoodie, Sally, BSc, PhD; Victor Chang Cardiac Research Institute
- Congenital NAD Deficiency Disorder
- Spondylocostal Dysostosis, Autosomal Recessive
Dunø, Morten, PhD; Rigshospitalet
- Myotonia Congenita
Dupré, Nicolas, MD, MSc; Université Laval
- Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum
- SYNE1 Deficiency
Dupuis, Lucie, MS, MSc; The Hospital for Sick Children and University of Toronto
- Caffey Disease
Durda, Kate M, MS; University of Iowa
- IRF6-Related Disorders
Durie, Peter R, MD; The Hospital for Sick Children, University of Toronto
- Shwachman-Diamond Syndrome
Durr, Alexandra, MD, PhD; Hôpital de la Pitié-Salpêtrière
- Parkin Type of Early-Onset Parkinson Disease
- Spastic Paraplegia 11
- Spastic Paraplegia 4
- Spinocerebellar Ataxia Type 28
Dye, Thomas J, MD; Cincinnati Children's Hospital Medical Center
- DLG4-Related Synaptopathy
Dykens, Elisabeth, PhD; University of California, Los Angeles
- Smith-Magenis Syndrome
Dyment, David A, DPhil, MD; Children's Hospital of Eastern Ontario
- ASAH1-Related Disorders
- SHORT Syndrome
- TRPM3-Related Neurodevelopmental Disorder
Délot, Emmanuèle C, PhD; Children's National Hospital
- Nonsyndromic 46,XX Testicular Disorders/Differences of Sex Development

Earl, Rachel, PhD; University of Washington
- CHD8-Related Neurodevelopmental Disorder with Overgrowth
Ebens, Christen, MD, MPH; University of Minnesota
- Fanconi Anemia
Ebrahimi-Fakhari, Darius, MD, PhD; Harvard Medical School
- AP-4-Associated Hereditary Spastic Paraplegia
- EPG5-Related Disorder
- PRRT2-Associated Paroxysmal Movement Disorders
- Spastic Paraplegia 15
- TECPR2-Related Hereditary Sensory and Autonomic Neuropathy with Intellectual Disability
Eccles, Michael R, PhD; University of Otago
- PAX2-Related Disorder
Edvardsson, Vidar Orn, MD; The National University Hospital of Iceland
- Adenine Phosphoribosyltransferase Deficiency
Edward, Deepak P, MD; University of Illinois at Chicago
- Primary Congenital Glaucoma
Edwards, Corwin Q, MD; University of Utah School of Medicine
- HFE-Related Hemochromatosis
Efthymiou, Stephanie, MSc, PhD; University College London
- GRIA2-Related Neurodevelopmental Disorder
- WARS2 Deficiency
Eggens, Veerle RC, MSc; University of Amsterdam
- EXOSC3 Pontocerebellar Hypoplasia
- TSEN54 Pontocerebellar Hypoplasia
Eichler, Evan E, PhD; University of Washington School of Medicine
- CHD8-Related Neurodevelopmental Disorder with Overgrowth
- DYRK1A Syndrome
Eichler, Florian S, MD; Massachusetts General Hospital
- Canavan Disease
Ejaz, Resham, MD; McMaster Children's Hospital
- NOTCH3-Related Lateral Meningocele Syndrome
El-Gharbawy, Areeg, MD; Duke University Medical Center
- Glycogen Storage Disease Type I
El-Hattab, Ayman W, MD; University of Sharjah
- Asparagine Synthetase Deficiency
- Deoxyguanosine Kinase Deficiency
- El-Hattab-Alkuraya Syndrome
- FARS2 Deficiency
- FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion Syndrome
- Glycogen Storage Disease Type IV
- MELAS
- Mitochondrial DNA Maintenance Defects Overview
- MPV17-Related Hepatocerebral Mitochondrial DNA Maintenance Defect
- SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria
- SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria
- Systemic Primary Carnitine Deficiency
- TK2-Related Mitochondrial DNA Maintenance Defect, Myopathic Form
- Xq28 Duplication Syndrome, Int22h1/Int22h2 Mediated
Elango, Sonya, MS; Icahn School of Medicine at Mount Sinai / Mount Sinai Beth Israel
- LRRK2 Parkinson Disease
Elizondo, Leah I; Baylor College of Medicine
- Schimke Immunoosseous Dysplasia
Elliott, Alison M, MS, PhD; University of British Columbia
- Ritscher-Schinzel Syndrome
Ellison, David H, MD; Oregon Health & Science University
- Pseudohypoaldosteronism Type II
Elsas, Louis J, MD; University of Miami
- Classic Galactosemia and Clinical Variant Galactosemia
Elsea, Sarah H, PhD; Baylor College of Medicine
- Aromatic L-Amino Acid Decarboxylase Deficiency
- MBD5 Haploinsufficiency
- Smith-Magenis Syndrome
Else, Tobias, MD; University of Michigan
- Hereditary Paraganglioma-Pheochromocytoma Syndromes
- POT1 Tumor Predisposition
Elsharkawi, Ibrahim, MD; Washington University
- Pitt-Hopkins Syndrome
Emanuel, Beverly S, PhD; Children's Hospital of Philadelphia
- 22q11.2 Deletion Syndrome
- Emanuel Syndrome
Eng, Charis, MD, PhD; Cleveland Clinic
- Multiple Endocrine Neoplasia Type 2
- PTEN Hamartoma Tumor Syndrome
Engelborghs, Sebastiaan, MD, PhD; University of Antwerp
- C9orf72-Related Amyotrophic Lateral Sclerosis and/or Frontotemporal Dementia
Engelen, Marc, MD, PhD; Amsterdam University Medical Centers
- Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation
England, Jade, MD, MSc; University of Montreal
- Spondylometaphyseal Dysplasia, Corner Fracture Type
Engle, Elizabeth C, MD; Children's Hospital Boston
- Congenital Fibrosis of the Extraocular Muscles Overview
- Duane Syndrome
Enns, Gregory M, MB ChB; Stanford University
- Carnitine-Acylcarnitine Translocase Deficiency
- MERRF
- NGLY1-Related Congenital Disorder of Deglycosylation
Erez, Ayelet, MD, PhD; Baylor College of Medicine
- Argininosuccinate Lyase Deficiency
Erro, Roberto, MD, PhD; University of Salerno
- Familial Paroxysmal Nonkinesigenic Dyskinesia
Erwin, Angelika, MD, PhD; Cleveland Clinic
- Congenital Erythropoietic Porphyria
Escolar, Maria L, MD, MS; Children's Hospital of Pittsburgh – UPMC
- Krabbe Disease
Esposito, Dario, MD; Sapienza Università di Roma
- PRICKLE1-Related Disorders
Evangelista, Teresinha, MD; Institut de Myologie
- Oculopharyngeal Muscular Dystrophy
Evans, D Gareth, MD; Manchester University Hospitals
- Nevoid Basal Cell Carcinoma Syndrome
- NF2-Related Schwannomatosis
Evans, Kelly N, MD; Seattle Children's Hospital
- Apert Syndrome
- FGFR Craniosynostosis Syndromes Overview
Everett, Lorraine A; National Human Genome Research Institute
- Pendred Syndrome / Nonsyndromic Enlarged Vestibular Aqueduct
Evidente, Virgilio Gerald H, MD; Movement Disorders Center of Arizona
- X-Linked Dystonia-Parkinsonism Syndrome
Ewbank, Clifton, MD; University of California San Francisco
- Fumarate Hydratase Deficiency
Eymard-Pierre, Eleonore, PhD; Unité mixte de recherche 384 et Fédération de génétique humaine Auvergne
- ALS2-Related Disorder

Fabre, Alexandre, MD, PhD; La Timone Children's Hospital
- Trichohepatoenteric Syndrome
Fahim, Abigail T, MD, PhD; University of Michigan Medical School
- Nonsyndromic Retinitis Pigmentosa Overview
Fahrner, Jill A, MD, PhD; Johns Hopkins School of Medicine
- TET3-Related Beck-Fahrner Syndrome
Falchetti, Alberto, MD; University Hospital of Careggi
- Multiple Endocrine Neoplasia Type 1
Falik Zaccai, Tzipora C, MD; Galilee Medical Center
- INSR-Related Severe Insulin Resistance Syndrome
Falk, Marni J, MD; Children's Hospital of Philadelphia
- Cohen Syndrome
- FGFR Craniosynostosis Syndromes Overview
- Mitochondrial DNA Deletion Syndromes
- Primary Pyruvate Dehydrogenase Complex Deficiency Overview
Fallatah, Wedad, MD; McGill University
- Rhizomelic Chondrodysplasia Punctata Type 1
Fam, Hok Khim, BSc; University of British Columbia
- Spinocerebellar Ataxia with Axonal Neuropathy, Autosomal Recessive
Fanin, Marina, PhD; University of Padova
- Calpainopathy
Fanto, Manolis, PhD; King's College London
- EPG5-Related Disorder
Fan, Yuting, MD; St Luke's Hospital
- Y Chromosome Infertility
Faqeih, Eissa, MD; King Fahad Medical City
- FARS2 Deficiency
Farlow, Janice, BA, BS; Indiana University School of Medicine
- Parkinson Disease Overview
Farndon, Peter A, MD; Birmingham Women's Hospital
- Nevoid Basal Cell Carcinoma Syndrome
Farrer, Matthew, PhD; University of British Columbia
- LRRK2 Parkinson Disease
Fasham, James, BSc, MBChB, PhD; University of Exeter Medical School
- HYAL2 Deficiency
Fatemi, Ali, MD; Kennedy Krieger Institute
- X-Linked Adrenoleukodystrophy
Fauth, Christine, MD; Medical University of Innsbruck
- FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome
Fecarotta, Simona, MD; Federico II University
- Lysinuric Protein Intolerance
Fechner, Patricia Y, MD; University of Washington
- Nonsyndromic Disorders of Testicular Development Overview
Federico, Antonio, MD; University of Siena
- Cerebrotendinous Xanthomatosis
Feldman, Gerald L, MD, PhD; Wayne State University School of Medicine
- BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer
Feldman, Howard H, MD; University of British Columbia
- GRN Frontotemporal Dementia
Felton, Thomas, MS; McLendon Clinical Laboratories
- DRPLA
Ferreira, Carlos R, MD; National Human Genome Research Institute
- Barth Syndrome
- Generalized Arterial Calcification of Infancy
- Osteoglophonic Dysplasia
- Primrose Syndrome
- Prolidase Deficiency
- Saul-Wilson Syndrome
Fete, Mary, MSN, RN; National Foundation for Ectodermal Dysplasias
- Hypohidrotic Ectodermal Dysplasia
Field, Amanda, MPH; ResourcePath
- DICER1 Tumor Predisposition
Figlewicz, Denise A, PhD; University of Michigan Medical School
- Facioscapulohumeral Muscular Dystrophy
Filipovich, Alexandra H, MD; Cincinnati Children's Hospital
- Familial Hemophagocytic Lymphohistiocytosis
- Lymphoproliferative Disease, X-Linked
- WAS-Related Disorders
- X-Linked Hyper IgM Syndrome
Finanger, Erika, MD; Oregon Health and Science University
- Spinal Muscular Atrophy
Fink, John K, MD; University of Michigan
- Hereditary Spastic Paraplegia Overview
Finucane, Brenda M, MS; Geisinger Health System
- 17q12 Recurrent Deletion Syndrome
- Maternal 15q Duplication Syndrome
- Smith-Magenis Syndrome
Fishbein, Lauren, MD, PhD; University of Colorado School of Medicine
- Hereditary Paraganglioma-Pheochromocytoma Syndromes
Fisher, Simon E, DPhil; Max Planck Institute for Psycholinguistics
- FOXP2-Related Speech and Language Disorder
Fish, Jennifer, PhD; University of Massachusetts Lowell
- SATB2-Associated Syndrome
Fiskerstrand, Torunn, MD, PhD; University of Bergen
- ADAMTSL4-Related Eye Disorders
Fitzgibbon, Jude, PhD; Queen Mary University of London
- CEBPA-Associated Familial Acute Myeloid Leukemia (AML)
FitzPatrick, David R, MD; University of Edinburgh
- SOX2 Disorder
Flanagan, Maeve, BA; Weill Cornell Medical College
- Bloom Syndrome
Flanigan, Kevin M, MD; Nationwide Children's Hospital
- Collagen VI-Related Dystrophies
Fleming, Judith C, PhD
- Thiamine-Responsive Megaloblastic Anemia Syndrome
Flemming, Kelly D, MD; Mayo Clinic
- Familial Cerebral Cavernous Malformation
Florenzano, Pablo, MD; National Institute of Dental and Craniofacial Research
- Fibrous Dysplasia / McCune-Albright Syndrome
Fluharty, Arvan L, PhD; University of California, Los Angeles
- Arylsulfatase A Deficiency
Fogli, Anne, PhD; UMR INSERM 1103
- Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter
Foley, A Reghan, MD; National Institute of Neurological Disorders and Stroke
- Collagen VI-Related Dystrophies
Fong, Jamie C, MS; University of California, San Francisco
- Holt-Oram Syndrome
Fontaine, Bertrand, MD, PhD; Assistance Publique - Hôpitaux de Paris
- Hypokalemic Periodic Paralysis
Foroud, Tatiana, PhD; Indiana University School of Medicine
- Parkinson Disease Overview
Forsythe, Elizabeth, BMedSci, MBBS; University College London
- Bardet-Biedl Syndrome Overview
Forsyth, RaeLynn, MD; Johns Hopkins University School of Medicine
- Bardet-Biedl Syndrome Overview
Forwood, Caitlin, BSc (Hons), MBBS (Hons); Sydney Children's Hospitals Network
- CLCN4-Related Neurodevelopmental Disorder
Foss, Kimberly, MS; Seattle Children's Hospital
- PPP2R5D-Related Neurodevelopmental Disorder
Foster, Rebecca, PhD; St Louis Children’s Hospital
- Smith-Magenis Syndrome
Fournier, Emmanuel, MD, PhD; Assistance Publique – Hôpitaux de Paris
- Hypokalemic Periodic Paralysis
Fox, Mark H, MD; University of Iowa
- PRICKLE1-Related Disorders
Franco, Brunella, MD; University of Naples Federico II
- Microphthalmia with Linear Skin Defects Syndrome
- Oral-Facial-Digital Syndrome Type I
Francomano, Clair A, MD; National Institutes of Health
- Achondroplasia
- Hypochondroplasia
Franques, Jérôme, MD; Assistance Publique – Hôpitaux de Marseille
- Hypokalemic Periodic Paralysis
Frantzen, Carlijn, MD; University Medical Center Groningen
- Von Hippel-Lindau Syndrome
Frazier, Marsha L, PhD; UT MD Anderson Cancer Center
- Peutz-Jeghers Syndrome
Freeman, Alexandra F, MD; National Institutes of Health
- STAT3 Hyper IgE Syndrome
French, Tegan; Murdoch Children's Research Institute
- Thanatophoric Dysplasia
Frey, Beat M, MD; Swiss Red Cross
- McLeod Neuroacanthocytosis Syndrome
Fridovich-Keil, Judith L, PhD; Emory University School of Medicine
- Duarte Variant Galactosemia
- Epimerase Deficiency Galactosemia
Friedman, Jan M, MD, PhD; University of British Columbia
- Neurofibromatosis 1
Friedman, Jennifer, MD; University of California San Diego
- ADCY5 Dyskinesia
- Sepiapterin Reductase Deficiency
Friedman, Thomas B, PhD; National Institute on Deafness and Other Communication Disorders
- Perrault Syndrome
Friez, Michael J, PhD; Greenwood Genetic Center
- GNPTAB-Related Disorders
Frontali, Marina, MD; Italian National Research Council
- DRPLA
Frühwald, Michael C, MD, PhD; University Medical Center Augsburg
- Rhabdoid Tumor Predisposition Syndrome
Fu, Jiao, MD; University of Chicago Medical Center
- Allan-Herndon-Dudley Syndrome
Fujimura, Frank K, PhD; GMP Genetics, Inc
- Hemophilia A
- Hemophilia B
Fukutake, Toshio, MD, PhD; Kameda Medical Center
- HTRA1 Disorder
Fung, Jasmine LF; University of Hong Kong
- MN1 C-Terminal Truncation Syndrome
Furukawa, Yoshiaki, MD, PhD; Juntendo University Faculty of Medicine
- GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia
- Tyrosine Hydroxylase Deficiency

Gabriele, Michele, MS, PhD; European Institute of Oncology
- Gabriele-de Vries Syndrome
Gadea, Randi, MS; Children's Mercy Hospitals and Clinics
- Ayme-Gripp Syndrome
Gafni, Rachel I, MD; National Institute of Dental and Craniofacial Research
- Hyperphosphatemic Familial Tumoral Calcinosis
Gahl, William A, MD, PhD; National Human Genome Research Institute
- Alkaptonuria
- Costeff Syndrome
- Cystinosis
- Free Sialic Acid Storage Disorders
- Generalized Arterial Calcification of Infancy
- Hermansky-Pudlak Syndrome
Galanello, Renzo, MD; Ospedale Regionale Microcitemie
- Alpha-Thalassemia
- Beta-Thalassemia
Gallagher, Emily R, MD, MPH; University of Washington
- Saethre-Chotzen Syndrome
Gallie, Brenda L, MD; Hospital for Sick Children
- Retinoblastoma
Gallus, Gian Nicola, Dsci; University of Siena
- Cerebrotendinous Xanthomatosis
Gamache, Pierre-Luc, MD, PhD; CHU de Québec
- SYNE1 Deficiency
Gambello, Michael J, MD, PhD; Emory University School of Medicine
- 3q29 Recurrent Deletion
- Duarte Variant Galactosemia
Ganesh, Jaya, MD; Icahn School of Medicine at Mount Sinai
- Lathosterolosis
Ganetzky, Rebecca, MD; Children's Hospital of Philadelphia
- Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency
- Primary Pyruvate Dehydrogenase Complex Deficiency Overview
- TRMU Deficiency
Gangishetti, Prasanna K, MBBS; Mount Sinai School of Medicine
- 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
Garber, Judy, MD, MPH; Dana Farber Cancer Institute
- Li-Fraumeni Syndrome
Garber, Kathryn, PhD; Emory University School of Medicine
- CTCF-Related Disorder
Garbern, James Y, MD, PhD; University of Rochester Medical Center
- PLP1 Disorders
Garcia, Christine Kim, MD, PhD; Columbia University Medical Center
- Pulmonary Fibrosis Predisposition Overview
García-Murias, María, MS; Centro de Investigación Biomédica en red de Enfermedades Raras
- Spinocerebellar Ataxia Type 36
Garden, Gwenn A, MD, PhD; University of Washington
- Spinocerebellar Ataxia Type 7
Gardner, Kathy Lou, MD; University of Pittsburgh
- Familial Hemiplegic Migraine
Gardner, RJM, MB ChB; University of Otago
- Spinocerebellar Ataxia Type 20
Garland, Emily M, PhD; Vanderbilt University Medical Center
- Dopamine Beta-Hydroxylase Deficiency
Gasior, Maciej, MD, PhD; George Washington University School of Medicine
- Succinic Semialdehyde Dehydrogenase Deficiency
Gassner, Christoph, PhD; Swiss Red Cross
- McLeod Neuroacanthocytosis Syndrome
Gatti, Richard A, MD; David Geffen School of Medicine at UCLA
- Ataxia-Telangiectasia
- Nijmegen Breakage Syndrome
Gaudette, Mara, MS; Northwestern University Medical School
- Amyotrophic Lateral Sclerosis Overview
Gaughan, Sommer, RD; Children's Hospital Colorado
- Hereditary Fructose Intolerance
Gauvreau, Claudie, MD, MSc; Laval University
- Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum
Gazdagh, Gabriella, MD; University Hospital Southampton
- TRIO-Related Neurodevelopmental Disorder
Gazda, Hanna T, MD, PhD; Harvard Medical School
- Diamond-Blackfan Anemia
Gazzerro, Elisabetta, MD; Gaslini Institute
- Hypomyelination and Congenital Cataract
Gear, Russell, MB ChB; Victorian Clinical Genetics Services
- Osteopathia Striata with Cranial Sclerosis
Geberhiwot, Tarekegn, MD; University Hospitals
- Alstrom Syndrome
Gelb, Bruce D, MD; Icahn School of Medicine at Mount Sinai
- Char Syndrome
- Noonan Syndrome with Multiple Lentigines
German, James, MD; Weill Cornell Medical College
- Bloom Syndrome
Gertler, Tracy, MD, PhD; Children's Hospital of Chicago
- KCNT1-Related Epilepsy
Geschwind, Daniel H, MD, PhD; University of California, Los Angeles
- Primary Familial Brain Calcification
Ghali, Neeti, MBChB, MD; London North West University Healthcare NHS Trust
- TNXB-Related Classical-Like Ehlers-Danlos Syndrome
Ghosh, Partha S, MD; Boston Children's Hospital
- Dystrophinopathies
Ghosh, Rajarshi, PhD; National Institute of Allergy and Infectious Diseases
- GARS-Associated Axonal Neuropathy
Gibbs, Richard A, PhD; Baylor College of Medicine
- Xia-Gibbs Syndrome
Gibson, K Michael, PhD; Washington State University Spokane
- Succinic Semialdehyde Dehydrogenase Deficiency
Gibson, Ronald L, MD, PhD; University of Washington School of Medicine
- Cystic Fibrosis
Gibson, William Thomas, MD, PhD; BC Children's Hospital
- EED-Related Overgrowth
- SETD1B-Related Neurodevelopmental Disorder
Gidaro, Teresa, MD, PhD; Institut de Myologie, CNRS
- Oculopharyngeal Muscular Dystrophy
Gil-Peña, Helena, PhD; Hospital Universitario Central de Asturias
- Hereditary Distal Renal Tubular Acidosis
Gilbert, Melissa A, PhD; Children's Hospital of Philadelphia
- Alagille Syndrome
Giles, Rachel H, PhD; University Medical Center Utrecht
- Von Hippel-Lindau Syndrome
Gillis, David, MD; Hadassah Hebrew University Hospital
- Familial Hyperinsulinism
Gimpel, Charlotte, MD; Heidelberg University
- Autosomal Recessive Polycystic Kidney Disease – PKHD1
Ginevic, Ilona, RD; Icahn School of Medicine at Mount Sinai
- Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency
Giovanni, Monica A, MS; Geisinger Health System
- Lysosomal Acid Lipase Deficiency
Girirajan, Santhosh, MBBS, PhD; Pennsylvania State University
- 16p12.2 Recurrent Deletion
- Smith-Magenis Syndrome
Girisha, Katta Mohan, MD, PhD; Manipal Academy of Higher Education
- EBF3 Neurodevelopmental Disorder
- EXOC6B-Related Spondyloepimetaphyseal Dysplasia with Joint Laxity
- ISCA1-Related Multiple Mitochondrial Dysfunctions Syndrome
- Multicentric Osteolysis Nodulosis and Arthropathy
- Progressive Pseudorheumatoid Dysplasia
Giunta, Cecilia, PhD; University Children's Hospital
- FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome
Giusti, Francesca, MD, PhD; Villa Donatello Hospital
- Multiple Endocrine Neoplasia Type 1
Glaser, Benjamin, MD; Hadassah-Hebrew University Medical Center
- Familial Hyperinsulinism
Glassford, Megan, MMSc; Emory University School of Medicine
- 3q29 Recurrent Deletion
Glass, Ian, MBChB, MD; University of Washington
- Joubert Syndrome
- SHOX Deficiency Disorders
Glinton, Kevin, MD, PhD; Baylor College of Medicine
- TANGO2 Deficiency
Gochuico, Bernadette R, MD; National Human Genome Research Institute
- Hermansky-Pudlak Syndrome
Godfrey, Maurice, PhD; University of Nebraska Medical Center
- Congenital Contractural Arachnodactyly
Gogineni, Kishore Sai, MSc; Kasturba Medical College, Manipal
- LPIN2-Related Majeed Syndrome
Golabi, Mahin, MD, MPH; San Francisco General Hospital
- Simpson-Golabi-Behmel Syndrome Type 1
Golas, Gretchen A, MS, RN; National Institutes of Health
- Chediak-Higashi Syndrome
Gold-Von Simson, Gabrielle, BA, MD; NYU Medical Center
- NTRK1 Congenital Insensitivity to Pain with Anhidrosis
Goldberg, Ethan M, MD, PhD; Children's Hospital of Philadelphia
- SCN3A-Related Neurodevelopmental Disorder
Goldberg, Y Paul, MBChB, PhD; Xenon Pharmaceuticals Inc
- Juvenile Hemochromatosis
Goldfarb, Lev G, MD; National Institute of Neurological Disorders and Stroke / NIH
- GARS-Associated Axonal Neuropathy
Goldin, Ehud, PhD; National Institutes of Health
- Mucolipidosis IV
Goldman, I David, MD; Albert Einstein College of Medicine
- FOLR1-Related Cerebral Folate Transport Deficiency
- Hereditary Folate Malabsorption
Goldstein, Amy, MD; Children's Hospital of Philadelphia
- Mitochondrial DNA Deletion Syndromes
Goldstein, David B, PhD; Columbia University Irving Medical Center
- GNB1 Encephalopathy
Goldstein, Jennifer L, MS, PhD; University of North Carolina-Chapel Hill
- Glycogen Storage Disease Type I
- Phosphorylase Kinase Deficiency
Gomes, Alicia, MS; University of Alabama
- LZTR1- and SMARCB1-Related Schwannomatosis
Gomez-Ospina, Natalia, MD, PhD; Stanford University
- Arylsulfatase A Deficiency
Gomez, Christopher M, MD, PhD; University of Chicago
- Spinocerebellar Ataxia Type 6
Gonzalez-Gandolfi, Christina X; Children's Hospital of Philadelphia
- Simpson-Golabi-Behmel Syndrome Type 1
Goodeve, Anne C, PhD; Sheffield Children's NHS Foundation Trust
- von Willebrand Disease
Goodman, Stephen I, MD; University of Colorado
- Glutaric Acidemia Type I
Goodnight, Scott H, MD; Oregon Health and Science University
- Factor V Leiden Thrombophilia
Goodspeed, Kimberly, MD; University of Texas Southwestern Medical Center
- Aspartylglucosaminuria
- SLC6A1-Related Neurodevelopmental Disorder
Gordillo, Miriam, PhD; Mount Sinai School of Medicine
- ESCO2 Spectrum Disorder
Gordon, Christopher T, PhD; Institut Imagine
- ANKRD17-Related Neurodevelopmental Syndrome
- MN1 C-Terminal Truncation Syndrome
Gordon, Kristiana, MD; St George’s University Hospitals
- Milroy Disease
Gordon, Leslie B, MD, PhD; Alpert Medical School of Brown University
- Hutchinson-Gilford Progeria Syndrome
Gorell, Emily, DO, MS; University of Cincinnati College of Medicine
- Epidermolysis Bullosa with Pyloric Atresia
Gorman, Gráinne S, MBBCh, PhD; Newcastle University
- RRM2B Mitochondrial DNA Maintenance Defects
Gorospe, J Rafael, MD, PhD; George Washington University School of Medicine
- Alexander Disease
Gosky, Michael, BS, MS; University of Pittsburgh
- LMNB1-Related Autosomal Dominant Leukodystrophy
Gospe, Sidney M, MD, PhD; University of Washington
- Hypermanganesemia with Dystonia 1
- Pyridoxine-Dependent Epilepsy - ALDH7A1
Gossye, Helena, MD; University of Antwerp
- C9orf72-Related Amyotrophic Lateral Sclerosis and/or Frontotemporal Dementia
Gottlieb, Bruce, PhD; McGill University
- Androgen Insensitivity Syndrome
Gottlob, Irene, MD; University of Leicester
- FRMD7-Related Infantile Nystagmus
Goudy, Steven, MD; Vanderbilt University
- IRF6-Related Disorders
Goulet, Olivier, MD, PhD; Hôpital Necker-Enfants Malades
- Trichohepatoenteric Syndrome
Gouw, Launce G-C, MD, PhD; University of Utah School of Medicine
- Spinocerebellar Ataxia Type 7
Govindaraj, Periyasamy, PhD; National Institute of Mental Health & Neurosciences
- Huppke-Brendel Syndrome
Graham, Brett, MD, PhD; Indiana University School of Medicine
- TANGO2 Deficiency
Graham, John M, MD, ScD; Cedars-Sinai Medical Center
- Bohring-Opitz Syndrome
- KCNK9 Imprinting Syndrome
- PIK3CA-Related Overgrowth Spectrum
Graham, Rona K, PhD; University of Sherbrooke
- Huntington Disease
Grand, Katheryn L, MS; Children's Hospital of Philadelphia
- WDR26-Related Intellectual Disability
Grange, Dorothy Katherine, MD; Washington University School of Medicine
- Cantú syndrome
- Hypohidrotic Ectodermal Dysplasia
Greally, Marie T, MD, MSc; Our Lady's Children's Hospital, Crumlin
- Shprintzen-Goldberg Syndrome
Greenbaum, Larry A, MD, PhD; Emory University
- Hereditary Distal Renal Tubular Acidosis
Greenberg, Samantha, MPH, MS; UT Southwestern Medical Center
- Hereditary Paraganglioma-Pheochromocytoma Syndromes
Greenblatt, Danielle, MB ChB; Guy's and St Thomas' NHS Foundation Trust
- Hidrotic Ectodermal Dysplasia 2
Greene, Carol L, MD; University of Maryland School of Medicine
- Phenylalanine Hydroxylase Deficiency
Green, Eric D, MD, PhD; National Human Genome Research Institute
- Pendred Syndrome / Nonsyndromic Enlarged Vestibular Aqueduct
Greengard, Emily G, MD; University of Minnesota Masonic Children’s Hospital
- ALK-Related Neuroblastic Tumor Susceptibility
Green, Glenn Edward, MD; University of Michigan
- Branchiootorenal Spectrum Disorder
- Genetic Hearing Loss Overview
- Jervell and Lange-Nielsen Syndrome
Green, Peter HR, MD; Columbia University Medical Center
- Celiac Disease
Gregersen, Pernille Axél, MD; Aarhus University Hospital
- Type II Collagen Disorders Overview
Gregory, Allison, MS; Oregon Health & Science University
- Beta-Propeller Protein-Associated Neurodegeneration
- Fatty Acid Hydroxylase-Associated Neurodegeneration
- MECR-Related Neurologic Disorder
- Mitochondrial Membrane Protein-Associated Neurodegeneration
- Neurodegeneration with Brain Iron Accumulation Disorders Overview
- Pantothenate Kinase-Associated Neurodegeneration
- PLA2G6-Associated Neurodegeneration
- SLC39A14 Deficiency
Grimaldi, Silvia, MD; Consorzio Siciliano di Riabilitazione – Associazione Italiana Assistenza Spastici (CSR-AIAS)
- DRPLA
Gripp, Karen W, MD; Alfred I duPont Hospital for Children
- Ayme-Gripp Syndrome
- HRAS-Related Costello Syndrome
- NOTCH3-Related Lateral Meningocele Syndrome
Grishchuk, Yulia, PhD; Harvard Medical School
- Mucolipidosis IV
Groffen, Alexander J, PhD; Amsterdam University Medical Center
- Long QT Syndrome Overview
Gropman, Andrea L, MD; Children's National Health System
- Holoprosencephaly Overview
- Smith-Magenis Syndrome
- Urea Cycle Disorders Overview
Gros-Louis, François, PhD; Université Laval
- SYNE1 Deficiency
Gruber, Stephen B, MD, PhD; USC Norris Comprehensive Cancer Center
- Lynch Syndrome
Grzeschik, Karl-Heinz, PhD; Philipps-Universität
- NSDHL-Related Disorders
Grünert, Sarah C, MD; Medical Center-University of Freiburg
- Glycogen Storage Disease Type III
Guella, Ilaria, PhD; University of British Columbia
- LRRK2 Parkinson Disease
Guerin, Andrea, MD; Queen's University
- Caffey Disease
Gunay-Aygun, Meral, MD; Johns Hopkins University School of Medicine
- Alstrom Syndrome
- Bardet-Biedl Syndrome Overview
- Costeff Syndrome
Guo, Rose, DO; Cone Health
- 1q21.1 Recurrent Microdeletion
Gupta, Karn, MD; Wake Forest University School of Medicine
- Autosomal Dominant Tubulointerstitial Kidney Disease -- UMOD
Gupta, Rajat, MD; Birmingham Women's and Children's Hospital
- WFS1 Spectrum Disorder
Gupta, Sweta, MD; Indiana Hemophilia & Thrombosis Center
- Complete Plasminogen Activator Inhibitor 1 Deficiency
Gurrola, Jose G, MD; University of Iowa
- OTOF-Related Deafness
Guttmacher, Alan E, MD; National Institutes of Health
- Hereditary Hemorrhagic Telangiectasia
Günes, Nilay, MD; Istanbul University
- Trichorhinophalangeal Syndrome

Haack, Tobias, MD; Helmholtz Zentrum & Technische Universität München
- Beta-Propeller Protein-Associated Neurodegeneration
Haan, J, MD, PhD; Leiden University Medical Center
- CADASIL
Haas-Givler, Barbara, MEd; Elwyn Training and Research Institute
- Smith-Magenis Syndrome
Hackman, Peter, PhD; University of Helsinki
- Salih Myopathy
- Udd Distal Myopathy - Tibial Muscular Dystrophy
Hack, Remco, MD; Leiden University Medical Center
- CADASIL
Hahn, Angelika F, MD; Western University
- Cold-Induced Sweating Syndrome including Crisponi Syndrome
Haigh, Brendan, PhD; University of British Columbia
- Huntington Disease
Hain, Heather S, MS, PhD; Children's Hospital of Philadelphia
- 22q11.2 Deletion Syndrome
Hainque, Bernard, PhD; Assistance Publique - Hôpitaux de Paris
- Hypokalemic Periodic Paralysis
Hakim, Alan, BA, MA, MBBChir; Harley Street Clinic
- Hypermobile Ehlers-Danlos Syndrome
Hakola, Panu, MD, PhD; Niuvanniemi Hospital
- Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy
Haldeman-Englert, Chad R, MD; Fullerton Genetics Center
- 1q21.1 Recurrent Microdeletion
- Branchiooculofacial Syndrome
- Disorders of GNAS Inactivation
- FGFR Craniosynostosis Syndromes Overview
Halpern, Gabrielle J, ChB, MB; Rabin Medical Center
- Familial Dysautonomia
- Familial Mediterranean Fever
Haltia, Matti J, MD, PhD; University of Helsinki
- Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy
Hamdan, Fadi F, PhD; CHU Ste-Justine Research Center
- SYNGAP1-Related Intellectual Disability
Hamel, Christian P, MD; INM Hôpital Saint Eloi
- Optic Atrophy Type 1
Hamersma, Herman, MD; Flora Clinic
- SOST-Related Sclerosing Bone Dysplasias
Hamilton, Eline, MD; VU University Medical Center
- TUBB4A-Related Leukodystrophy
Hammer, Michael F, PhD; University of Arizona
- SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders
Hamosh, Ada, MD, MPH; Johns Hopkins University School of Medicine
- Nonketotic Hyperglycinemia
Hampel, Heather, MS; The Ohio State University
- PTEN Hamartoma Tumor Syndrome
Handley, Mark, PhD; University of Leeds
- RAB18 Deficiency
Hanna, Michael G, BSc (Hons), MD; UCL Institute of Neurology Queen Square
- Episodic Ataxia Type 1
Hannibal, Mark C, MD, PhD; University of Michigan Medical School
- IPEX Syndrome
- Kabuki Syndrome
Hannig, Vickie L, MS; Vanderbilt Medical Center
- X-Linked Spondyloepiphyseal Dysplasia Tarda
Hansen-Kiss, Emily, MA, MS; UTHealth School of Dentistry at Houston
- Nonsyndromic Tooth Agenesis Overview
Hansen, C David, MD; University of Utah
- Pachyonychia Congenita
Hanson, Ellen, PhD; Boston Children's Hospital
- 16p11.2 Recurrent Deletion
Hanson, Nancy, MS; University of Washington
- Werner Syndrome
Harbison, Madeleine D, MD; Icahn School of Medicine at Mount Sinai
- Silver-Russell Syndrome
Harlalka, Gaurav; St George's, University of London
- Troyer Syndrome
Harms, Matthew M, MD; Washington University School of Medicine
- TARDBP-Related Amyotrophic Lateral Sclerosis-Frontotemporal Dementia
Harris, Anne K, MPH; Childen's Minnesota
- DICER1 Tumor Predisposition
Harris, James C, MD; Johns Hopkins University School of Medicine
- HPRT1 Disorders
Harris, Peter C, PhD; Mayo Clinic
- Dent Disease
- Polycystic Kidney Disease, Autosomal Dominant
- Primary Hyperoxaluria Type 1
- Primary Hyperoxaluria Type 3
Hartig, Monika, MD; Technische Universität München
- Mitochondrial Membrane Protein-Associated Neurodegeneration
Hartka, Thomas R, MS; George Washington University School of Medicine
- Succinic Semialdehyde Dehydrogenase Deficiency
Hartley, Taila, MSc; Children's Hospital of Eastern Ontario Research Institute
- Mandibulofacial Dysostosis with Microcephaly
Hart, P Suzanne, PhD; National Institutes of Health
- Autosomal Dominant Tubulointerstitial Kidney Disease -- UMOD
Harvengt, Pol, PhD; XLH Belgium
- X-Linked Hypophosphatemia
Hasan, Sonia M, PhD; Kuwait University
- Episodic Ataxia Type 1
Hasselblatt, Martin, MD; University Hospital Münster
- Rhabdoid Tumor Predisposition Syndrome
Hathaway, Evan R, MS; Children's Hospital of Philadelphia
- Simpson-Golabi-Behmel Syndrome Type 1
Haviland, Isabel, MD; Boston Children's Hospital
- CDKL5 Deficiency Disorder
Hayashi, Masahiro, MD, PhD; Yamagata University
- Oculocutaneous Albinism Type 4
Hayden, Michael R, ChB, MB, PhD; University of British Columbia
- Huntington Disease
Hayflick, Susan J, MD; Oregon Health & Science University
- Beta-Propeller Protein-Associated Neurodegeneration
- Fatty Acid Hydroxylase-Associated Neurodegeneration
- MECR-Related Neurologic Disorder
- Mitochondrial Membrane Protein-Associated Neurodegeneration
- Neurodegeneration with Brain Iron Accumulation Disorders Overview
- Pantothenate Kinase-Associated Neurodegeneration
- PLA2G6-Associated Neurodegeneration
- SLC39A14 Deficiency
Hedera, Peter, MD, PhD; University of Louisville
- Hereditary Spastic Paraplegia Overview
- Spastic Paraplegia 3A
Hefner, Margaret A, MS; Saint Louis University School of Medicine
- CHD7 Disorder
Hegele, Robert A, MD; Western University
- Abetalipoproteinemia
- APOB-Related Familial Hypobetalipoproteinemia
- Chylomicron Retention Disease
- Familial Combined Hypolipidemia
- Familial Lipoprotein Lipase Deficiency
- Tangier Disease
Hehr, Ute, MD; Center for Human Genetics
- DCX-Related Disorders
Heidlebaugh, Alexis R, ScM; Geisinger Health System
- CHD8-Related Neurodevelopmental Disorder with Overgrowth
Heiman, Meadow, MS; Indiana Hemophilia & Thrombosis Center
- Complete Plasminogen Activator Inhibitor 1 Deficiency
Heimer, Gali, MD, PhD; Sheba Medical Center, Sackler School of Medicine
- MECR-Related Neurologic Disorder
- TECPR2-Related Hereditary Sensory and Autonomic Neuropathy with Intellectual Disability
Helbig, Ingo, MD; Children's Hospital of Philadelphia
- CHD2-Related Neurodevelopmental Disorders
Helbig, Katherine L, MS; Children's Hospital of Philadelphia
- SCN3A-Related Neurodevelopmental Disorder
Helsmoortel, Céline, MSc; University of Antwerp
- ADNP-Related Disorder
He, Miao, PhD; University of Pennsylvania
- Epimerase Deficiency Galactosemia
Hennekam, Raoul CM, MD, PhD; Academic Medical Center
- Peters Plus Syndrome
- TBC1D24-Related Disorders
- Trichorhinophalangeal Syndrome
Hennermann, Julia B, MD, PhD; University Medical Center Mainz
- Nonketotic Hyperglycinemia
Henry, Marie-Louise, MS; University of Michigan
- POT1 Tumor Predisposition
Heppner, Jonathan, PhD; University of British Columbia
- Mucopolysaccharidosis Type I
Herbert, Mrudu, MD, MPH; University of Kentucky
- Phosphorylase Kinase Deficiency
Herman, Gail Ellen, MD, PhD; Nationwide Children's Hospital
- Chondrodysplasia Punctata 2, X-Linked
- X-Linked Myotubular Myopathy
Herman, Isabella, MD, PhD; Baylor College of Medicine
- ENTPD1-Related Neurodevelopmental Disorder
Hermann, Andreas, MD, PhD; University Medical Center Rostock
- VPS13A Disease
Hershberger, Ray E, MD; The Ohio State University
- Dilated Cardiomyopathy Overview
- LMNA-Related Dilated Cardiomyopathy
Hershfield, Michael, MD; Duke University Medical Center
- Adenosine Deaminase Deficiency
Hershkovitz, Tova, MD; The Genetics Institute - Rambam Health Care Campus
- GLYT1 Encephalopathy
Heutink, Peter, PhD; Vrije Universiteit Medical Center
- MAPT-Related Frontotemporal Dementia
Hicks, Debbie, PhD; University of Newcastle upon Tyne
- Collagen VI-Related Dystrophies
High, Frances A, MD, PhD; MassGeneral Hospital for Children
- Congenital Diaphragmatic Hernia Overview
Hildebrand, Michael S, PhD; University of Melbourne
- DFNA2 Nonsyndromic Hearing Loss
- FOXP2-Related Speech and Language Disorder
- Genetic Hearing Loss Overview
Hildebrandt, Friedhelm, MD; Boston Children’s Hospital
- Sphingosine Phosphate Lyase Insufficiency Syndrome
Hill, D Ashley, MD; George Washington University School of Medicine
- DICER1 Tumor Predisposition
Hing, Anne V, MD; Seattle Children's Hospital
- Apert Syndrome
Hingorani, Melanie, MA, MBBS, MD; Moorfields Eye Hospital
- PAX6-Related Aniridia
Hipp, Heather, MD; Emory University School of Medicine
- FMR1 Disorders
Hirano, Michio, MD; Columbia University Medical Center
- MELAS
- MERRF
- Mitochondrial DNA Deletion Syndromes
- Mitochondrial Neurogastrointestinal Encephalopathy Disease
Hirano, Ryuki, MD, PhD; Kagoshima University Graduate School of Medical and Dental Sciences
- Spinocerebellar Ataxia with Axonal Neuropathy, Autosomal Recessive
Hirose, Shinichi, MD, PhD; Fukuoka University
- Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy
Hirst, Jennifer, PhD; University of Cambridge
- AP-4-Associated Hereditary Spastic Paraplegia
Hisama, Fuki M, MD; University of Washington
- ADCY5 Dyskinesia
- SCN9A Neuropathic Pain Syndromes
- Werner Syndrome
Hisaund, Michael, BSc; University of Leicester
- FRMD7-Related Infantile Nystagmus
Hoang, Stephanie, MSc; University of Alberta Hospital
- Choroideremia
- X-Linked Congenital Retinoschisis
- X-Linked Congenital Stationary Night Blindness
Hobbs, William, MD, PhD; University of Washington
- Sickle Cell Disease
Hobson, Grace M, PhD; Nemours Alfred I duPont Hospital for Children
- Pelizaeus-Merzbacher-Like Disease 1
- PLP1 Disorders
Ho, Carolyn, MD; Brigham and Women's Hospital
- Hypertrophic Cardiomyopathy Overview
Hodge, Jennelle, PhD; Cedars-Sinai Medical Center
- 17q12 Recurrent Duplication
Hoffman, Erin P, MS; Littleton Adventist Hospital
- Lysosomal Acid Lipase Deficiency
Hogarth, Penelope, MD; Oregon Health & Science University
- Beta-Propeller Protein-Associated Neurodegeneration
- MECR-Related Neurologic Disorder
- Mitochondrial Membrane Protein-Associated Neurodegeneration
- PLA2G6-Associated Neurodegeneration
Ho, Gladys; The Children's Hospital at Westmead
- MECP2 Disorders
Holder-Espinasse, Muriel, MD, PhD; Guy's and St Thomas' NHS Trust
- Three M Syndrome
Holder, J Lloyd, MD, PhD; Texas Children's Hospital
- SYNGAP1-Related Intellectual Disability
Holland, Steven M, MD; National Institute of Allergy and Infectious Diseases - NIH
- Chronic Granulomatous Disease
- STAT3 Hyper IgE Syndrome
Holm, Ida E, DMSc, MD; Aarhus University
- CHMP2B Frontotemporal Dementia
Hong, Kui, MD, PhD; Heart Institute of Nanchang University
- Brugada Syndrome
Hoogerbrugge, Nicoline, MD, PhD; Radboud University Medical Center
- NTHL1 Tumor Syndrome
Hooper, Amanda J, PhD; University of Western Australia
- Abetalipoproteinemia
- APOB-Related Familial Hypobetalipoproteinemia
- Chylomicron Retention Disease
- Familial Combined Hypolipidemia
- Familial Lipoprotein Lipase Deficiency
- Tangier Disease
Hoover-Fong, Julie E, MD, PhD; Johns Hopkins University
- Autosomal Dominant TRPV4 Disorders
- Nail-Patella Syndrome
Hopfer, Suellen, MS, PhD; Pennsylvania State University
- Primary Familial Brain Calcification
Hopkin, Robert J, MD; University of Cincinnati College of Medicine
- Cytochrome P450 Oxidoreductase Deficiency
Hopkinson, Ian, BSc (Hons), MBChB, PhD; University College London
- Alstrom Syndrome
Hopp, Katharina, PhD; Mayo Clinic - Minnesota
- Dent Disease
Horsthemke, Bernhard, PhD; University of Essen
- Retinoblastoma
Horvath, Anelia, PhD; National Institutes of Health
- Carney Complex
Hosoi, Yasushi, MD; Hamamatsu University School of Medicine
- Aceruloplasminemia
Ho, Stephanie KL, MD; Clinical Genetic Service, Department of Health
- CTNNB1 Neurodevelopmental Disorder
- Strømme Syndrome
Houck, Kimberly, MD; Baylor College of Medicine
- TANGO2 Deficiency
Houge, Gunnar, MD, PhD; Haukeland University Hospital
- PPP2R1A-Related Neurodevelopmental Disorder
Houlden, Henry, MD, PhD; University College London
- DRPLA
- GAA-FGF14-Related Ataxia
- GRIA2-Related Neurodevelopmental Disorder
- NKX6-2-Related Disorder
- RFC1 CANVAS / Spectrum Disorder
- Riboflavin Transporter Deficiency
- Spinocerebellar Ataxia Type 11
- WARS2 Deficiency
Howard, Heidi C, PhD; Radboud University Medical Center
- Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum
Howard, Vanessa C, MSN, RN; St Jude Children's Research Hospital
- X-Linked Agammaglobulinemia
Howe, James R, MD; University of Iowa Hospitals and Clinics
- Juvenile Polyposis Syndrome
Hoyme, H Eugene, MD; Sanford Children's Hospital
- Hyaline Fibromatosis Syndrome
Hoyos-Martinez, Alfonso, MD; Baylor College of Medicine
- TANGO2 Deficiency
Hsiung, Ging-Yuek Robin, MD, MHSc; University of British Columbia and Providence Health Care
- GRN Frontotemporal Dementia
Hsu, Amy P; National Institute of Allergy and Infectious Diseases
- STAT3 Hyper IgE Syndrome
Hudgins, Louanne, MD; Stanford University
- Kabuki Syndrome
Huff, Vicki, PhD; University of Texas MD Anderson Cancer Center
- Wilms Tumor Predisposition
Hufnagel, Robert B, MD, PhD; National Eye Institute - NIH
- PNPLA6 Disorders
Hughes, Derralynn A, DPhil, MA; University College Medical School
- Fabry Disease
- Gaucher Disease
Huizing, Marjan, PhD; National Human Genome Research Institute
- Costeff Syndrome
- GNE Myopathy
- Hermansky-Pudlak Syndrome
Hull, Judith L, MS; Memorial Sloan-Kettering Cancer Center
- BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer
Hull, Peter R, MD, PhD; Dalhousie University
- Pachyonychia Congenita
Hulton, Sally-Anne, MD; Birmingham Children’s Hospital
- Primary Hyperoxaluria Type 2
Hume, Stacey, PhD; University of Alberta
- Choroideremia
Hu, Mimi I, MD; The University of Texas MD Anderson Cancer Center
- CDC73-Related Disorders
Hundley, Rachel, PhD; Boston Children's Hospital
- 16p11.2 Recurrent Deletion
Hunt, David, MBBS, PhD; Princess Anne Hospital
- PURA-Related Neurodevelopmental Disorders
Hunter, Alasdair GW, MD; Children's Hospital of Eastern Ontario
- RPS6KA3-Related Intellectual Disability
Hunter, David G, MD, PhD; Children's Hospital Boston
- Congenital Fibrosis of the Extraocular Muscles Overview
- Duane Syndrome
Hunter, Elizabeth, BS; UTHealth School of Dentistry at Houston
- Nonsyndromic Tooth Agenesis Overview
Hunter, Jessica Ezzell, PhD; Kaiser Permanente Northwest
- FMR1 Disorders
Hunter, JM, PhD; Nationwide Children's Hospital
- Spinal Muscular Atrophy, X-Linked Infantile
Huntsman, David G, MD; University of British Columbia
- Hereditary Diffuse Gastric Cancer
Hupertz, Vera, MD; Cleveland Clinic
- Alpha-1 Antitrypsin Deficiency
Huq, Mahbubul, MD, PhD; University of British Columbia
- Huntington Disease
Hurley, R Morrison, MD; British Columbia's Children's and Women's Hospital
- Primary Hyperoxaluria Type 1
Hurst, Anna CE, MD, MS; University of Alabama at Birmingham
- Disorders of GNAS Inactivation
Huryn, Laryssa A, MD; National Eye Institute
- DICER1 Tumor Predisposition
Huston, Haley, BS; Bloodworks Northwest
- Hemophilia A
- Hemophilia B
Hutchinson, Anne L, BS; Children's Hospital of Philadelphia
- Alagille Syndrome
Hyde, Samuel M, MMSc; University of Texas MD Anderson Cancer Center
- CDC73-Related Disorders
Häberle, Johannes, MD; University Children’s Hospital Zurich
- Carbonic Anhydrase VA Deficiency

Iacovazzo, Donato, MD; Queen Mary University of London
- X-Linked Acrogigantism
Idkowiak, Jan, MD, PhD; University of Birmingham
- Cytochrome P450 Oxidoreductase Deficiency
Idos, Gregory, MD, MS; City of Hope National Medical Center
- Lynch Syndrome
Ikeda, Marc D, MD; Children's Hospital of Pittsburgh
- ZAP70-Related Combined Immunodeficiency
Ikeda, Shu-ichi, MD, PhD; Shinshu University Hospital
- Hereditary Transthyretin Amyloidosis
Ikeda, Yoshio, MD, PhD; Institute of Genetic Medicine
- Spinocerebellar Ataxia Type 8
Indo, Yasuhiro, MD, PhD; Kumamoto University Hospital
- NTRK1 Congenital Insensitivity to Pain with Anhidrosis
Infante, Elena, MS; University of Pittsburgh
- MUTYH Polyposis
Innes, A Micheil, BSc, MD; University of Calgary
Innis, Jeffrey W, MD, PhD; University of Michigan
- Hand-Foot-Genital Syndrome
Introne, Wendy J, MD; National Human Genome Research Institute
Irons, Mira, MD; Children's Hospital Boston
- Smith-Lemli-Opitz Syndrome
Irving, Melita, MBBS, MD; Guy's and St Thomas' NHS Trust
- Three M Syndrome
Isaacs, Adrian M, DPhil; University College London
- CHMP2B Frontotemporal Dementia
Ison, Hannah E, MS; Stanford Center for Inherited Cardiovascular Disease
- Familial Hypercholesterolemia
Ito, Daisuke, MD, PhD; Keio University
- BSCL2-Related Neurologic Disorders / Seipinopathy
Iwasa, Yoichiro, MD, PhD; University of Iowa
- Pendred Syndrome / Nonsyndromic Enlarged Vestibular Aqueduct

Jabs, Ethylin Wang, MD; Icahn School of Medicine at Mount Sinai
- ESCO2 Spectrum Disorder
- STAC3 Disorder
- Treacher Collins Syndrome
Jackson, Andrew, PhD; University of Edinburgh
- Microcephalic Osteodysplastic Primordial Dwarfism Type II
- RNU4atac-opathy
Jackson, Michelle A, MS; University of Texas MD Anderson Cancer Center
- CDC73-Related Disorders
James, Aaron; University of California San Francisco
- Simpson-Golabi-Behmel Syndrome Type 1
James, Paula, MD; Queen's University
- von Willebrand Disease
Jankovic, Joseph, MD; Baylor College of Medicine
- NKX2-1-Related Disorders
Jansen, Anna C, MD, PhD; Universitair Ziekenhuis Brussel
- PAFAH1B1-Related Lissencephaly / Subcortical Band Heterotopia
- Polymicrogyria Overview
- Progressive Myoclonus Epilepsy, Lafora Type
Janssens, Veerle, PhD; KU Leuven
- PPP2R1A-Related Neurodevelopmental Disorder
Jasperson, Kory W; University of Utah
- APC-Associated Polyposis Conditions
Jeffery, Steve, PhD; St George's University of London
- Lymphedema-Distichiasis Syndrome
- Milroy Disease
Jen, Joanna C, MD, PhD; Icahn School of Medicine at Mount Sinai
- Familial Hemiplegic Migraine
Jeste, Shafali Spurling, MD; Children's Hospital Los Angeles
- Maternal 15q Duplication Syndrome
Jethva, Reena, MD; St Christopher's Hospital for Children
- Short-Chain Acyl-CoA Dehydrogenase Deficiency
Jewett, Tamison, MD; Wake Forest University School of Medicine
- 1q21.1 Recurrent Microdeletion
Jinnah, Hyder A, MD, PhD; Emory University
- HPRT1 Disorders
Jirsa, Milan, MD, PhD; Institute for Clinical and Experimental Medicine
- Rotor Syndrome
Johannesen, Katrine, MD, PhD; Rigshospitalet
- SLC6A1-Related Neurodevelopmental Disorder
Johann, Pascal, MD; German Cancer Consortium (DKTK)
- Rhabdoid Tumor Predisposition Syndrome
Johannsen, Peter, MD, PhD; Rigshospitalet
- CHMP2B Frontotemporal Dementia
Johnson-Kerner, Bethany, MD, PhD; University of California, San Francisco
- DDX3X-Related Neurodevelopmental Disorder
Johnson, Eric W, PhD; Barrow Neurological Institute
- Familial Cerebral Cavernous Malformation
Johnson, Judith, MS; Cincinnati Children's Hospital Medical Center
- Autoimmune Lymphoproliferative Syndrome
- Familial Hemophagocytic Lymphohistiocytosis
- Lymphoproliferative Disease, X-Linked
- WAS-Related Disorders
- X-Linked Hyper IgM Syndrome
Johnson, Kyle P, MD; Oregon Health and Science University
- Smith-Magenis Syndrome
Johnson, Maribel J, MA, RN; Puget Sound Blood Center
- Hemophilia A
- Hemophilia B
Johnson, Rebecca H, MD; Seattle Children's Hospital
- ALK-Related Neuroblastic Tumor Susceptibility
Johnston, Jennifer J, PhD; National Human Genome Research Institute
- Greig Cephalopolysyndactyly Syndrome
Jones, Mary-Kayt N, BA; University of Iowa Hospitals and Clinics
- GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss
Jordan, Elizabeth, MMSc; The Ohio State University
- Dilated Cardiomyopathy Overview
- LMNA-Related Dilated Cardiomyopathy
Jorgenson, Ronald J, DDS, PhD; Consultant; formerly, President, Applied Genetics, Inc, Austin
- Hypohidrotic Ectodermal Dysplasia
Josephson, Neil C, MD; Seattle Genetics
- Hemophilia A
- Hemophilia B
Joshi, Nishtha; Baylor College of Medicine
- KCNQ2-Related Disorders
- KCNQ3-Related Disorders
Jungbluth, Heinz, MD, PhD; King's College London
- DYNC1H1-Related Disorders
- EPG5-Related Disorder
Jung, Hans H, MD; University Hospital Zurich
- McLeod Neuroacanthocytosis Syndrome
Jurgens, Julie A, PhD; Boston Children's Hospital
- Congenital Fibrosis of the Extraocular Muscles Overview
Jurkat-Rott, Karin, MD, PhD; Ulm University
- Hyperkalemic Periodic Paralysis
Jägle, Herbert, MD; University of Regensburg
- Achromatopsia

Kaback, Michael M, MD; University of California, San Diego
- HEXA Disorders
Kacena, Melissa A, PhD; Indiana University School of Medicine
- GATA1-Related Cytopenia
Kahle, Kristopher T, MD, PhD; Massachusetts General Hospital
- Muenke Syndrome
- Pseudohypoaldosteronism Type II
Kakhlon, Or, PhD; Hadassah-Hebrew University Medical Center
- GBE1 Adult Polyglucosan Body Disease
Kalaydjieva, Luba, MD, PhD; The University of Western Australia
- CTDP1-Related Congenital Cataracts, Facial Dysmorphism, and Neuropathy
Kaler, Stephen G, MD, MPH; The Ohio State University College of Medicine
- ATP7A-Related Copper Transport Disorders
Kalfa, Theodosia A, MD, PhD; Cincinnati Children's Hospital Medical Center and University of Cincinnati Medical School
- EPB42-Related Hereditary Spherocytosis
Kalish, Jennifer M, MD, PhD; Children's Hospital of Philadelphia
- Beckwith-Wiedemann Syndrome
- Simpson-Golabi-Behmel Syndrome Type 1
Kalscheuer, Vera, PhD; Max Planck Institute for Molecular Genetics
- CLCN4-Related Neurodevelopmental Disorder
Kamath, Binita M, MBBChir; Children's Hospital of Philadelphia
- Alagille Syndrome
Kamholz, John, MD, PhD; University of Iowa Hospitals & Clinics
- PLP1 Disorders
Kamihara, Junne, MD, PhD; Dana-Farber/Boston Children's Cancer and Blood Disorders Center
- DICER1 Tumor Predisposition
- FH Tumor Predisposition Syndrome
Kamsteeg, Erik-Jan, MD, PhD; Radboud University Medical Center
- ARSACS
- Ataxia-Telangiectasia
Kang, Jingqiong, PhD; Vanderbilt University Medical Center
- SLC6A1-Related Neurodevelopmental Disorder
Kannu, Peter, MB ChB, PhD; The Hospital for Sick Children
- Cherubism
Kantarci, Sibel, PhD; Quest Diagnostics Nichols Institute
- Donnai-Barrow Syndrome
Kapferer-Seebacher, Ines, DMD; Medical University of Innsbruck
- Periodontal Ehlers-Danlos Syndrome
Kaplan, Julie D, MD; Cleveland Clinic Foundation
- MYRF-Related Cardiac Urogenital Syndrome
Karczeski, Barbara A, MA, MS; Johns Hopkins University School of Medicine
- Cystic Fibrosis
- Thanatophoric Dysplasia
Karpati, George, MD; Montreal Neurological Institute
- GNE Myopathy
Kashtan, Clifford E, MD; University of Minnesota
- Alport Syndrome
Kaspar, Roger L, PhD; Transderm, Inc
- Pachyonychia Congenita
Katsanis, Sara Huston, MS; Northwestern University
- Treacher Collins Syndrome
Kaurah, Pardeep, MSc, PhD; University of British Columbia
- Hereditary Diffuse Gastric Cancer
Kaur, Parneet, MSc; Manipal Academy of Higher Education
- ISCA1-Related Multiple Mitochondrial Dysfunctions Syndrome
Kaur, Simranpreet, M Phil, MSc; University of Melbourne
- MECP2 Disorders
Kaya, Namik, PhD; King Faisal Specialist Hospital & Research Center
- ISCA2-Related Mitochondrial Disorder
- NKX6-2-Related Disorder
Kaylor, Julie, MS; Arkansas Children's Hospital
- SATB2-Associated Syndrome
Kayser, Michael A, DO; Center for Genetic Testing at Saint Francis Hospital
- Alkaptonuria
Keats, Bronya JB, PhD; Louisiana State University Health Sciences Center
- Usher Syndrome Type I
- Usher Syndrome Type II
Keegan, Catherine E, MD, PhD; University of Michigan
- Nonsyndromic Disorders of Testicular Development Overview
Kelkar, Janhawi, MD; Icahn School of Medicine at Mount Sinai
- Lathosterolosis
Kelley, Philip M, PhD; Boys Town National Research Hospital
- OTOF-Related Deafness
Kelly, Edward J, PhD; University of Washington
- Bietti Crystalline Dystrophy
Kelly, Thaddeus E, MD, PhD; University of Virginia Hospital
- Hypochondroplasia
Keppler-Noreuil, Kim, MD; University of Wisconsin School of Medicine and Public Health
- Cranioectodermal Dysplasia
- PIK3CA-Related Overgrowth Spectrum
Kerrigan, John F, MD; Phoenix Children's Hospital
- Fumarate Hydratase Deficiency
Khaikin, Yannay, BSc; The Hospital for Sick Children
- STXBP1 Encephalopathy with Epilepsy
Khan, Sadiya S, MD; Northwestern University Feinberg School of Medicine
- Complete Plasminogen Activator Inhibitor 1 Deficiency
Khaytin, Ilya, MD, PhD; Northwestern University
- Congenital Central Hypoventilation Syndrome
Kibrom, Sara, MD; Stanford University School of Medicine
- SCARB2-Related Action Myoclonus – Renal Failure Syndrome
Kidd, Kendrah, MS; Wake Forest University School of Medicine
- Autosomal Dominant Tubulointerstitial Kidney Disease -- MUC1
- Autosomal Dominant Tubulointerstitial Kidney Disease -- REN
- Autosomal Dominant Tubulointerstitial Kidney Disease -- UMOD
Kimberling, William J, PhD; Boys Town National Research Hospital
- Usher Syndrome Type I
- Usher Syndrome Type II
Kimonis, Virginia, MD; University of California Irvine Medical Center
- Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia
Kinsley, Lisa, MS; Northwestern University Feinberg School of Medicine
- Amyotrophic Lateral Sclerosis Overview
Kirk, Jessica, BS; Yale University School of Medicine
- GATA1-Related Cytopenia
Kirmani, Salman, MBBS; Aga Khan University
- Hereditary Paraganglioma-Pheochromocytoma Syndromes
Kirschner, Lawrence, MD, PhD; The Ohio State University Comprehensive Cancer Center
- Multiple Endocrine Neoplasia Type 4
Kishnani, Priya S, MD; Duke University Medical Center
- Glycogen Storage Disease Type I
- Phosphorylase Kinase Deficiency
Kish, Stephen, PhD; University of Toronto
- Tyrosine Hydroxylase Deficiency
Klaiman, Cheryl, PhD; Emory University School of Medicine
- 3q29 Recurrent Deletion
Klar, Aharon, MD; Hebrew University
- INSR-Related Severe Insulin Resistance Syndrome
Klasson, Timothy D, BSc; University Medical Center Utrecht
- Von Hippel-Lindau Syndrome
Kleefstra, Tjitske, MD, PhD; Radboud University Medical Center
- DDX3X-Related Neurodevelopmental Disorder
- Kleefstra Syndrome
Klein-Tasman, Bonita P, PhD; University of Wisconsin-Milwaukee
- 7q11.23 Duplication Syndrome
Klein, Christine, MD; University of Lübeck
- Hereditary Dystonia Overview
- Parkin Type of Early-Onset Parkinson Disease
- PINK1 Type of Young-Onset Parkinson Disease
- PRRT2-Associated Paroxysmal Movement Disorders
Klein, Christopher J, MD; Mayo Clinic
- DNMT1-Related Disorder
- GBE1 Adult Polyglucosan Body Disease
Klein, Pierre, MSc; Université Pierre et Marie Curie
- Oculopharyngeal Muscular Dystrophy
Klein, Roger D, JD, MD; Cleveland Clinic
- CEBPA-Associated Familial Acute Myeloid Leukemia (AML)
- Hereditary Paraganglioma-Pheochromocytoma Syndromes
Klein, Steven D, MD, PhD; Children's Hospital of Philadelphia
- Simpson-Golabi-Behmel Syndrome Type 1
Kleta, Robert, MD, PhD; National Institutes of Health
- Cystinosis
- Free Sialic Acid Storage Disorders
Kline, Antonie D, MD; Greater Baltimore Medical Center
- Au-Kline Syndrome
Kloeckener-Gruissem, Barbara, PhD; University of Zurich and ETH Zurich
- VCAN-Related Vitreoretinopathy
Klopstock, Thomas, MD; University Hospital, LMU Munich
- Mitochondrial Membrane Protein-Associated Neurodegeneration
Kmiec, Tomasz, MD; Children’s Memorial Health Institute
- Mitochondrial Membrane Protein-Associated Neurodegeneration
Kmoch, Stanislav, PhD; Charles University
- Autosomal Dominant Tubulointerstitial Kidney Disease -- MUC1
- Autosomal Dominant Tubulointerstitial Kidney Disease -- REN
- Autosomal Dominant Tubulointerstitial Kidney Disease -- UMOD
- Rotor Syndrome
Knappskog, Per Morten, PhD; Haukeland University Hospital
- ADAMTSL4-Related Eye Disorders
- Cold-Induced Sweating Syndrome including Crisponi Syndrome
- Congenital Stromal Corneal Dystrophy
Knight Johnson, Amy, MS; University of Chicago
- Maturity-Onset Diabetes of the Young Overview
Knisely, AS, MD; Medizinische Universität Graz
- ATP8B1 Deficiency
- Rotor Syndrome
Knoers, Nine, MD, PhD; University Medical Center Groningen
- Cranioectodermal Dysplasia
- Hereditary Nephrogenic Diabetes Insipidus
- Nephronophthisis-Related Ciliopathies
Knowles, Joshua W, MD, PhD; Stanford Center for Inherited Cardiovascular Disease
- Familial Hypercholesterolemia
Knowles, Michael R, MD; University of North Carolina at Chapel Hill
- Primary Ciliary Dyskinesia
Kobayashi, Keiko, PhD; Kagoshima University Graduate School of Medical and Dental Sciences
- Citrin Deficiency
Koenekoop, Robert K, MD, PhD; McGill University Health Center
- Usher Syndrome Type I
- Usher Syndrome Type II
Koene, Saskia, MD, PhD; Leiden University Medical Center
- FOXP1 Syndrome
Koenig, Mary Kay, MD; McGovern Medical School
- Tuberous Sclerosis Complex
Koenig, Michel, MD, PhD; Université de Montpellier
- Ataxia with Oculomotor Apraxia Type 1
- Ataxia with Oculomotor Apraxia Type 2
Kohlhase, Jürgen, MD; SYNLAB Center for Human Genetics
- SALL4-Related Disorders
- Townes-Brocks Syndrome
Kohlmann, Wendy, MS; University of Michigan Health System
- Lynch Syndrome
Kohl, Susanne, MSc, PhD; Institute for Ophthalmic Research
- Achromatopsia
Kolevzon, Alexander, MD; Icahn School of Medicine at Mount Sinai
- FOXP1 Syndrome
Konkle, Barbara A, MD; University of Washington
- Hemophilia A
- Hemophilia B
Konno, Takuya, MD, PhD; Niigata University
- DCTN1-Related Neurodegeneration
Koolen, David A, MD, PhD; Radboud University Medical Center
- Koolen-de Vries Syndrome
Kool, Marcel, PhD; German Cancer Consortium (DKTK)
- Rhabdoid Tumor Predisposition Syndrome
Kooy, Frank, PhD; University of Antwerp
- ADNP-Related Disorder
Korbonits, Márta, MD, PhD; Queen Mary University of London
- AIP Familial Isolated Pituitary Adenomas
- X-Linked Acrogigantism
Kordes, Uwe, MD; University Medical Center Hamburg – Eppendorf
- Rhabdoid Tumor Predisposition Syndrome
Korf, Bruce R, MD, PhD; University of Alabama at Birmingham
- Dystrophinopathies
Kornak, Uwe, MD, PhD; Universitätsmedizin Göttingen
- ATP6V0A2-Related Cutis Laxa
- CLCN7-Related Osteopetrosis
Koskiniemi, Marja-Leena, MD, PhD; University of Helsinki
- Progressive Myoclonic Epilepsy Type 1
Kostic, Ana, PhD; Icahn School of Medicine at Mount Sinai
- FOXP1 Syndrome
Kowdley, Kris V, MD; Virginia Mason Medical Center
- HFE-Related Hemochromatosis
Koy, Anne, MD; University of Cologne
- GNAO1-Related Disorder
Kraemer, Kenneth H, MD; National Cancer Institute
- Xeroderma Pigmentosum
Krahn, Katherine Nash, MS; University of Iowa
- IRF6-Related Disorders
Krajewski, Karen, MS; Wayne State University School of Medicine
- PLP1 Disorders
Kranc, Kamil R, DPhil, MD; Queen Mary University of London
- Fumarate Hydratase Deficiency
Krantz, Ian D, MD; The Children's Hospital of Philadelphia
- Alagille Syndrome
- Cornelia de Lange Syndrome
Krasnewich, Donna M, MD, PhD; National Institutes of Health
- Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview
- PMM2-CDG
Krause, Amanda, MBBCh, PhD; University of the Witwatersrand
- Huntington Disease-Like 2
Krey, Ilona, MD; Univeristy of Leipzig Medical Center
- GRIN2D-Related Developmental and Epileptic Encephalopathy
Kriek, Marjolein, MD, PhD; Leiden University Medical Center
- Peters Plus Syndrome
Kronn, David F, MD; New York Medical College
- Hereditary Folate Malabsorption
Kruer, Michael C, MD; University of South Dakota Sanford School of Medicine
- Fatty Acid Hydroxylase-Associated Neurodegeneration
Kruszka, Paul, MD, MPH; GeneDx
- Holoprosencephaly Overview
- Muenke Syndrome
- Weiss-Kruszka Syndrome
Kucine, Nicole, MD, MS; Weill Cornell Medicine
- Bloom Syndrome
Kuhlenbäumer, Gregor, MD, PhD; University of Kiel
- GAN-Related Neurodegeneration
Kuiper, Roland P, PhD; Princess Máxima Center for Pediatric Oncology
- NTHL1 Tumor Syndrome
Kujovich, Jody L, MD; Oregon Health and Science University
- Factor V Leiden Thrombophilia
- Prothrombin Thrombophilia
Kumar, Ajith V, MD; Great Ormond Street Hospital
- AIP Familial Isolated Pituitary Adenomas
Kumar, Anil; University of Leicester
- FRMD7-Related Infantile Nystagmus
Kumaran, Neruban, BSc, MBBS; University College London
- Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview
Kumble, Smitha, MBBS; Murdoch Children's Research Institute
- Chondrodysplasia Punctata 2, X-Linked
Kupfer, Gary, MD; Yale University School of Medicine
- Fanconi Anemia
Kurahashi, Hirokazu, MD, PhD; Aichi Medical University
- Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy
Kurian, Manju Ann, MBBChir, PhD; UCL Great Ormond Street Institute of Child Health
- Aromatic L-Amino Acid Decarboxylase Deficiency
- Beta-Propeller Protein-Associated Neurodegeneration
- DNAJC6 Parkinson Disease
- KMT2B-Related Dystonia
- PLA2G6-Associated Neurodegeneration
- SLC12A5-Related Epilepsy of Infancy with Migrating Focal Seizures
- SLC39A14 Deficiency
- SLC6A3-Related Dopamine Transported Deficiency Syndrome
Kurolap, Alina, MSc, RN; The Genetics Institute - Rambam Health Care Campus
- GLYT1 Encephalopathy
Kurth, Ingo, MD; Uniklinik RWTH Aachen
- Hereditary Sensory and Autonomic Neuropathy Type II
Kurtz-Nelson, Evangeline C, PhD; University of Washington
- CHD8-Related Neurodevelopmental Disorder with Overgrowth
Kurtzman, Tracey L; University of Arizona Colleges of Medicine and Science
- Smith-Lemli-Opitz Syndrome
Kushner, Jessica D, MS; Oregon Health and Science University
- Dilated Cardiomyopathy Overview
Kutler, Mary Jo, DO; The Snyder-Robinson Foundation
- Snyder-Robinson Syndrome
Kutsche, Kerstin, PhD; University Medical Center Hamburg-Eppendorf
- CASK Disorders
- EBF3 Neurodevelopmental Disorder
Kälviäinen, Reetta, MD, PhD; Kuopio University Hospital
- Progressive Myoclonic Epilepsy Type 1
Kölker, Stefan, MD; University Hospital Heidelberg
- Classic Isovaleric Acidemia
König, Arne, MD; Philipps-Universität
- NSDHL-Related Disorders
Küry, Sébastien, DVM, PhD; Service de Génétique médicale – CHU
- Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis

La Spada, Albert R, MD, PhD; University of California Irvine School of Medicine
- Spinal and Bulbar Muscular Atrophy
- Spinocerebellar Ataxia Type 7
Labrador, Emma, RN; Connecticut Children’s Medical Center
- Glycogen Storage Disease Type VI
Lacau St Guily, Jean, MD; Centre de Recherche en Myologie
- Oculopharyngeal Muscular Dystrophy
Lacbawan, Felicitas L, MD; Cleveland Clinic
- Alpha-1 Antitrypsin Deficiency
Lachlan, Katherine, MD; Southampton University
- CHD4 Neurodevelopmental Disorder
Lai, Jennifer, MD; University of California San Francisco
- Hereditary Coproporphyria
Laing, Nigel G, PhD; University of Western Australia
- Laing Distal Myopathy
Lai, Yi-Chen, MD; Baylor College of Medicine
- TANGO2 Deficiency
Laje, Gonzalo, MD; National Institute of Mental Health
- Smith-Magenis Syndrome
Lalani, Seema R, MD; Baylor College of Medicine
- CHD7 Disorder
- TANGO2 Deficiency
Lal, Dennis, PhD; Cleveland Clinic
- SLC6A1-Related Neurodevelopmental Disorder
Lam, Christina, MD; University of Washington
- NGLY1-Related Congenital Disorder of Deglycosylation
- PMM2-CDG
Lamont, Phillipa, PhD; Royal Perth Hospital
- Laing Distal Myopathy
Lampe, Anne Katrin, MD; Western General Hospital
- Collagen VI-Related Dystrophies
Lamperti, Costanza, MD; IRCCS Foundation Carlo Besta Neurological Institute
- Ethylmalonic Encephalopathy
Lange, Dirk, PhD; University of British Columbia
- Primary Hyperoxaluria Type 1
Lange, Lara M, MD; University of Lübeck
- PINK1 Type of Young-Onset Parkinson Disease
Langer, Arielle L, MD, MPH; Brigham and Women's Hospital
- Beta-Thalassemia
Langer, Katherine, BA; Weill Cornell Medicine
- Bloom Syndrome
Lanpher, Brendan C, MD; Mayo Clinic
- Urea Cycle Disorders Overview
Larizza, Lidia, MD; IRCSS Istituto Auxologico Italiano
- Baller-Gerold Syndrome
- Poikiloderma with Neutropenia
Larkin, Allyson, MD; Children’s Hospital of Pittsburgh
- ZAP70-Related Combined Immunodeficiency
Larsen Haidle, Joy, MS; North Memorial Hospital
- Juvenile Polyposis Syndrome
Larson, Austin, MD; University of Colorado
- Glutaric Acidemia Type I
LaRusch, Jessica, PhD; Ariel Precision Medicine
- Pancreatitis Overview
- PRSS1-Related Hereditary Pancreatitis
LaSalle, Janine M, PhD; University of California Davis School of Medicine
- Maternal 15q Duplication Syndrome
Laugel, Vincent, MD, PhD; Laboratory of Medical Genetics
- Cockayne Syndrome
Laurent, Michaël R, MD, PhD; University Hospitals Leuven
- X-Linked Hypophosphatemia
Law, Linda, MBA, MD; Advicenne
- Hereditary Distal Renal Tubular Acidosis
Lawlor, Michael W, MD, PhD; Medical College of Wisconsin
- X-Linked Myotubular Myopathy
Lawrence, Jessica, MSc; Alberta Health Services
- Bestrophinopathies
Layman, Lawrence C, MD; Medical College of Georgia
- PROP1-Related Combined Pituitary Hormone Deficiency
Le Goff, Carine, PhD; INSERM U781
- Geleophysic Dysplasia
Leachman, Sancy A, MD, PhD; University of Utah
- Pachyonychia Congenita
Leach, Meganne E, MSN, PNP; Oregon Health and Science University
- Spinal Muscular Atrophy
LeBlanc, Shannon, MBBS; University of Melbourne
- Pycnodysostosis
Lebwohl, Benjamin, MD, MS; Columbia University
- Celiac Disease
Ledbetter, David H, PhD; Geisinger Health System
- 17q12 Recurrent Deletion Syndrome
- CHD8-Related Neurodevelopmental Disorder with Overgrowth
Lee, Bo Hoon, MD; University of Rochester Medical Center
- PURA-Related Neurodevelopmental Disorders
Lee, Brendan H, MD, PhD; Baylor College of Medicine
- Argininosuccinate Lyase Deficiency
- Cleidocranial Dysplasia Spectrum Disorder
- KAT6B Disorders
Lee, Chung U, MD; Stanford University
- Carnitine-Acylcarnitine Translocase Deficiency
- MERRF
Lee, Kristen N, MD; University of Michigan
- Citrullinemia Type I
Lee, Mianne, MSc; Univeristy of Hong Kong
- CTNNB1 Neurodevelopmental Disorder
- MN1 C-Terminal Truncation Syndrome
Lee, Soohee, PhD; The New York Blood Center
- McLeod Neuroacanthocytosis Syndrome
Lee, Thomas, MD, MSc; University of Ottawa
- Bestrophinopathies
Legare, Janet M, MD; University of Wisconsin
- Achondroplasia
Legius, Eric H, MD, PhD; University of Leuven
- Legius Syndrome
LeGuern, Eric, MD, PhD; Hôpital de la Pitié-Salpêtrière
- SH3TC2-Related Hereditary Motor and Sensory Neuropathy
Lehesjoki, Anna-Elina, MD, PhD; University of Helsinki
- Marinesco-Sjogren Syndrome
- Progressive Myoclonic Epilepsy Type 1
Lehman, Christopher, MS; Geisinger Health System
- 16p11.2 Recurrent Deletion
Lehmann-Horn, Frank, MD, MS, PhD; Ulm University
- Hyperkalemic Periodic Paralysis
- Hypokalemic Periodic Paralysis
Lehmberg, Kai, MD; University Medical Center Eppendorf
- Familial Hemophagocytic Lymphohistiocytosis
Leiding, Jennifer W, MD; Johns Hopkins University
- Chronic Granulomatous Disease
Leigh, Margaret W, MD; University of North Carolina at Chapel Hill
- Primary Ciliary Dyskinesia
Leistritz, Dru F, MS; University of Washington Medical Center
- Werner Syndrome
Lemire, Gabrielle, MD; Children's Hospital of Eastern Ontario Research Institute
- KAT6B Disorders
- THOC6 Intellectual Disability Syndrome
Lemke, Johannes R, MD; University of Leipzig Medical Center
- GRIN1-Related Neurodevelopmental Disorder
- GRIN2B-Related Neurodevelopmental Disorder
- GRIN2D-Related Developmental and Epileptic Encephalopathy
Lemmers, Richard JLF, PhD; Leiden University Medical Center
- Facioscapulohumeral Muscular Dystrophy
Lemmink, Henny, PhD; University Medical Center
- Hereditary Nephrogenic Diabetes Insipidus
Lenaers, Guy, PhD; Centre Hospitalier Universitaire
- Optic Atrophy Type 1
Lentz, Jennifer J, PhD; Louisiana State University Health Sciences Center
- Usher Syndrome Type I
- Usher Syndrome Type II
Leonard, Helen, MBChB, MPH; Telethon Kids Institute
- CDKL5 Deficiency Disorder
Leonard, Laura D, BA; Children’s Hospital of Philadelphia
- Alagille Syndrome
Leroy, Bart P, MD, PhD; Ghent University Hospital & Ghent University
- Adult Refsum Disease
Leroy, Jules G, MD, PhD; Ghent University Hospital
- GNPTAB-Related Disorders
Leslie, Elizabeth J, PhD; Emory University
- IRF6-Related Disorders
Leslie, Nancy D, MD; Cincinnati Children's Hospital Medical Center
- Pompe Disease
- Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
Lesnik Oberstein, Saskia AJ, MD, PhD; Leiden University Medical Center
- CADASIL
- Peters Plus Syndrome
Letra, Ariadne, DDS, MS, PhD; UTHealth School of Dentistry at Houston
- Nonsyndromic Tooth Agenesis Overview
Leturcq, France, MD; Hôpital Cochin
- Emery-Dreifuss Muscular Dystrophy
Leung, Alva, BS; California Pacific Medical Center
- Simpson-Golabi-Behmel Syndrome Type 1
Leung, Lai Ting, MD; Clinical Genetic Service, Department of Health
- Strømme Syndrome
Leuzzi, Vincenzo, MD; Sapienza Università di Roma
- PRICKLE1-Related Disorders
Levade, Thierry, MD, PhD; Centre de Recherches en Cancérologie de Toulouse
- ASAH1-Related Disorders
Leventer, Richard J, BMedSci, MBBS, PhD; Royal Children's Hospital
- Polymicrogyria Overview
- PURA-Related Neurodevelopmental Disorders
Levine, Michael A, MD; Children's Hospital of Philadelphia
- Disorders of GNAS Inactivation
Levy-Lahad, Ephrat, MD; Sharre Zedek Medical Center
- BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer
Levy, Amanda M, MSc; Rigshospitalet
- DLG4-Related Synaptopathy
Levy, Harvey L, MD; Boston Children's Hospital
- Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency
Levy, Howard P, MD, PhD; Johns Hopkins University School of Medicine
- Hypermobile Ehlers-Danlos Syndrome
Levy, Rebecca V, BM BCh, MSc; Montefiore Medical Center
- 17q12 Recurrent Deletion Syndrome
Lewandowska, Magdalena, MD; Indiana Hemophilia & Thrombosis Center
- Complete Plasminogen Activator Inhibitor 1 Deficiency
Lewis, David B, MD; Stanford University School of Medicine
- Schimke Immunoosseous Dysplasia
Lewis, Richard Alan, MD, MS; Baylor College of Medicine
- Lowe Syndrome
Lichter-Konecki, Uta, MD, PhD; UPMC Children’s Hospital of Pittsburgh
- Ornithine Transcarbamylase Deficiency
- Urea Cycle Disorders Overview
Li, Chumei, MD, PhD; McMaster University
- FREM1 Autosomal Recessive Disorders
Liebau, Max, MD; University of Cologne
- Autosomal Recessive Polycystic Kidney Disease – PKHD1
Lieske, John C, MD; Mayo Clinic
- Dent Disease
- Primary Hyperoxaluria Type 1
- Primary Hyperoxaluria Type 3
Li, Frederick, MD; Dana Farber Cancer Institute
- Li-Fraumeni Syndrome
Li, Hong, MD, PhD; Emory University School of Medicine
- CTCF-Related Disorder
Lilien, Marc, MD, PhD; University Medical Center Utrecht
- Nephronophthisis-Related Ciliopathies
Li, Longchuan, PhD; Emory University School of Medicine
- 3q29 Recurrent Deletion
Lim, Albert Z, MBBS (Hons); Newcastle University
- RRM2B Mitochondrial DNA Maintenance Defects
Lin, Angela E, MD; MassGeneral Hospital for Children
- Branchiooculofacial Syndrome
- Cranioectodermal Dysplasia
- HRAS-Related Costello Syndrome
- MN1 C-Terminal Truncation Syndrome
- Myhre Syndrome
Lindhurst, Marjorie J, PhD; National Institutes of Health
- SLC25A19-Related Thiamine Metabolism Dysfunction
Lindor, Noralane M, MD; Mayo Clinic
- Myhre Syndrome
Lindsay, Mark E, MD, PhD; MassGeneral Hospital for Children
- Myhre Syndrome
Lines, Matthew, MD, MSc; University of Calgary
- Mandibulofacial Dysostosis with Microcephaly
- TRPM3-Related Neurodevelopmental Disorder
Links, Thera P, MD, PhD; University Medical Center Groningen
- Von Hippel-Lindau Syndrome
Lin, Xi, MD, PhD; University of Texas Medical Branch
- Spinocerebellar Ataxia Type 1
Lippner, Elizabeth, MD; Ann & Robert H. Lurie Children's Hospital of Chicago
- Schimke Immunoosseous Dysplasia
Lipska-Zietkiewicz, Beata S, MD, PhD; Medical University of Gdansk
- Genetic Steroid-Resistant Nephrotic Syndrome Overview
- WT1 Disorder
Liu, Lawrence U, MD; Icahn School of Medicine at Mount Sinai
- Familial Porphyria Cutanea Tarda
- Hepatoerythropoietic Porphyria
Liu, Paul, MD, PhD; National Human Genome Research Institute
- RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies
Lloyd, Ricardo V, MD, PhD; Mayo Clinic
- Hereditary Paraganglioma-Pheochromocytoma Syndromes
Lochmüller, Hanns, MD; Children's Hospital of Eastern Ontario Research Institute
- Congenital Myasthenic Syndromes Overview
Loeys, Bart L, MD, PhD; Antwerp University Hospital
- EFEMP2-Related Cutis Laxa
- FBLN5-Related Cutis Laxa
- Loeys-Dietz Syndrome
Lohmann, Dietmar R, MD; University Hospital Essen
- Retinoblastoma
Lohmann, Katja, PhD; University of Lübeck
- Hereditary Dystonia Overview
Lohr, Jamie, MD; University of Minnesota Amplatz Children's Hospital
- Autosomal Dominant Robinow Syndrome
Lo, Ivan FM, MD; Clinical Genetic Service, Department of Health
- CTNNB1 Neurodevelopmental Disorder
- FAM111A-Related Skeletal Dysplasias
- Strømme Syndrome
Longoni, Mauro, MD; Harvard Medical School
- Congenital Diaphragmatic Hernia Overview
- Donnai-Barrow Syndrome
Loomes, Kathleen M, MD; University of Pennsylvania
- Alagille Syndrome
Lopez, Christina, BS; California Pacific Medical Center
- Simpson-Golabi-Behmel Syndrome Type 1
LoPiccolo, Mary Kate, MD; Icahn School of Medicine at Mount Sinai
- Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency
Lory, Philippe, PhD; Université de Montpellier 1 et 2
- Hypokalemic Periodic Paralysis
Lossie, Amy C; University of Florida College of Medicine
- Angelman Syndrome
Lossos, Alexander, MD; Hadassah-Hebrew University Medical Center
- GBE1 Adult Polyglucosan Body Disease
Lotze, Timothy, MD; Baylor College of Medicine
- GARS-Associated Axonal Neuropathy
Louie, Raymond J, PhD; Greenwood Genetic Center
- IPEX Syndrome
Lou, Shu, MD; University of British Columbia
- Schimke Immunoosseous Dysplasia
Loyd, James E, MD; Vanderbilt University Medical Center
- Heritable Pulmonary Arterial Hypertension Overview
Lubarr, Naomi, MD; Beth Israel Medical Center
- DYT1 Early-Onset Isolated Dystonia
Luchsinger, Kadi, BS; Dup15q Alliance
- Maternal 15q Duplication Syndrome
Lucia, Alejandro, MD, PhD; European University of Madrid
- Glycogen Storage Disease Type V
Lucking, Christoph, MD; Ludwig-Maximilians-University
- Parkin Type of Early-Onset Parkinson Disease
Lucky, Anne W, MD; Cincinnati Children's Hospital
- Dystrophic Epidermolysis Bullosa
- Epidermolysis Bullosa Simplex
- Epidermolysis Bullosa with Pyloric Atresia
- Junctional Epidermolysis Bullosa
Luk, Ho-ming, MD; Hong Kong Children’s Hospital
- CTNNB1 Neurodevelopmental Disorder
- FAM111A-Related Skeletal Dysplasias
- Strømme Syndrome
Lupski, James R, MD, PhD; Baylor College of Medicine
- Smith-Magenis Syndrome
Lusk, Laina, MMSc; Children's Hospital of Philadelphia
- Maternal 15q Duplication Syndrome
- PACS1 Neurodevelopmental Disorder
Lyman, Benjamin, DO; LSU Health Science Center
- Cystic Fibrosis
Lynch, Henry, MD; Creighton University Hereditary Cancer Center
- MUTYH Polyposis
Lyons, Michael J, MD; Greenwood Genetic Center
- MED12-Related Disorders
Lönnqvist, Tuula, MD, PhD; Helsinki University Hospital
- Infantile-Onset Spinocerebellar Ataxia
Lücke, Thomas, MD, PhD; Hannover Medical School
- Schimke Immunoosseous Dysplasia
Lüdecke, Hermann-Josef, PhD; Universitätsklinikum Düsseldorf
- TXNL4A-Related Craniofacial Disorders

Maas, Saskia, MD; University of Amsterdam
- Trichorhinophalangeal Syndrome
Maccollin, Mia M, MD; Harvard Medical School/Massachusetts General Hospital
- NF2-Related Schwannomatosis
Macdermott, Seamus, MD; Torbay Hospital
- Alstrom Syndrome
MacDonald, Ian M, MDCM; University of Alberta
- Bestrophinopathies
- Choroideremia
- Weill-Marchesani Syndrome
- X-Linked Congenital Retinoschisis
- X-Linked Congenital Stationary Night Blindness
MacDonald, Stella K, BSc; Children's Hospital of Eastern Ontario Research Institute
- Mandibulofacial Dysostosis with Microcephaly
- VLDLR Cerebellar Hypoplasia
MacFarland, Suzanne P, MD; Children’s Hospital of Philadelphia
- Juvenile Polyposis Syndrome
MacFarlane, Julie, MS; Xenon Pharmaceuticals Inc
- Juvenile Hemochromatosis
Machol, Keren, MD, PhD; Baylor College of Medicine
- Cleidocranial Dysplasia Spectrum Disorder
Machowicz, Rafal, MD; Medical University of Warsaw
- Familial Hemophagocytic Lymphohistiocytosis
Mackay, Deborah JG, MA, PhD; Salisbury NHS Foundation Trust
- Diabetes Mellitus, 6q24-Related Transient Neonatal
MacKenzie, Alex, MD; Children's Hospital of Eastern Ontario
- DLG4-Related Synaptopathy
MacLeod, Erin, PhD, RD; Children's National Hospital
- Ornithine Transcarbamylase Deficiency
MacLeod, Heather, MS; University of Chicago
- Arrhythmogenic Right Ventricular Cardiomyopathy Overview
Maconachie, Gail, BSc, PhD; University of Leicester
- FRMD7-Related Infantile Nystagmus
Madhok, Sehajvir, MD; Columbia University Irving Medical Center
- HNRNPH2-Related Neurodevelopmental Disorder
Magenis, Ellen, MD; Oregon Health and Science University
- Smith-Magenis Syndrome
Magoulas, Pilar L, MS; Baylor College of Medicine
- Glycogen Storage Disease Type IV
Mahadeo, Kris M, MD, MPH; Albert Einstein College of Medicine
- Hereditary Folate Malabsorption
Mah, Dean Y, MD, MSc; University of Alberta
- Bestrophinopathies
Maher, Eamonn R, MD; University of Cambridge
- PLA2G6-Associated Neurodegeneration
Mahtani, Karishma, BSc; Atwal Clinic: Genomic & Personalized Medicine
- Molybdenum Cofactor Deficiency
Maillard, Camille, PhD; Université de Paris
- Tubulinopathies Overview
Makaryan, Vahagn, MD; University of Washington Medical Center
- ELANE-Related Neutropenia
Mak, Christopher CY, MB ChB, PhD; University of Hong Kong
- MN1 C-Terminal Truncation Syndrome
Malfait, Fransiska, MD, PhD; Ghent University Hospital
- Classic Ehlers-Danlos Syndrome
Malicdan, May Christine V, MD, PhD; National Human Genome Research Institute
- Chediak-Higashi Syndrome
- GNE Myopathy
- Hermansky-Pudlak Syndrome
Malm, Dag, MD, PhD; Tromsø Center of Internal Medicine
- Alpha-Mannosidosis
Mancini, Cecilia, PhD; University of Turin
- Spinocerebellar Ataxia Type 28
Mandell, Roseann; Massachusetts General Hospital
- Fumarate Hydratase Deficiency
Mannens, Marcel MAM, PhD; University of Amsterdam
- Long QT Syndrome Overview
Manohar, Vaishnavi, MT; King's College London
- TARDBP-Related Amyotrophic Lateral Sclerosis-Frontotemporal Dementia
Manole, Andreea, BSc, PhD; UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery
- Riboflavin Transporter Deficiency
Manoli, Irini, MD, PhD; National Human Genome Research Institute
- Isolated Methylmalonic Acidemia
- STAC3 Disorder
Mansour, Sahar; St George's, University of London
- Lymphedema-Distichiasis Syndrome
- Milroy Disease
Mao, Rong, MD; University of Utah
- Legius Syndrome
Marafi, Dana, MD, MSc; Kuwait University
- El-Hattab-Alkuraya Syndrome
Marazita, Mary L, PhD; University of Pittsburgh
- Congenital Central Hypoventilation Syndrome
Marbach, Felix, MD; Heidelberg University
- Schaaf-Yang Syndrome
Marcelis, Carlo LM, MD; Radboud University Nijmegen Medical Center
- Feingold Syndrome 1
Marchuk, Douglas, PhD; Duke University
- Familial Cerebral Cavernous Malformation
Marconi, Roberto, MD; Ospedale Misericordia
- Spastic Paraplegia 7
Marcucci, Guido, MD; Ohio State University
- CEBPA-Associated Familial Acute Myeloid Leukemia (AML)
Margolis, Russell L, MD; Johns Hopkins University School of Medicine
- Huntington Disease-Like 2
Marini, Francesca, PhD; Italian Foundation for Research on Bone Diseases
- Multiple Endocrine Neoplasia Type 1
Markovitz, Rebecca, MD, PhD; Baylor College of Medicine
- GARS-Associated Axonal Neuropathy
Mark, Paul, MD; Michigan State University
- Congenital NAD Deficiency Disorder
Marquard, Jessica, MS; Cleveland Clinic
- Multiple Endocrine Neoplasia Type 2
Marquardt, Thorsten, Dr. med.; Universitätsklinikum Münster
- SLC39A8-CDG
Marras, Connie, MD, PhD; University of Toronto
- Hereditary Dystonia Overview
Marshall, Jan D, MS; The Jackson Laboratory
- Alstrom Syndrome
Marshall, Susan G, MD; University of Washington School of Medicine
- Cystic Fibrosis
Marsh, Eric D, MD, PhD; Children's Hospital of Philadelphia
- CDKL5 Deficiency Disorder
Marsh, Rebecca A, MD; Cincinnati Children's Hospital
- Familial Hemophagocytic Lymphohistiocytosis
- Lymphoproliferative Disease, X-Linked
Martin, Christa L, PhD; Geisinger Health System
- 17q12 Recurrent Deletion Syndrome
- CHD8-Related Neurodevelopmental Disorder with Overgrowth
- PACS1 Neurodevelopmental Disorder
Martin, Donna M, MD, PhD; University of Michigan
- CHD7 Disorder
Martin, George M, MD; University of Washington
- Werner Syndrome
Martin, Jack W, MD; The University of Texas MD Anderson Cancer Center
- CDC73-Related Disorders
Martin, Rick A, MD; Saint Louis University
- Mucopolysaccharidosis Type II
Martín, Bertha, PhD; University of Iowa
- C3 Glomerulopathy
Martín, Miguel A, PhD; Hospital 12 de Octubre Research Institute
- Glycogen Storage Disease Type V
Marzin, Pauline, MD; Paris Cité University
- Geleophysic Dysplasia
- Weill-Marchesani Syndrome
Mastrangelo, Mario, MD, PhD; Sapienza Università di Roma
- PRICKLE1-Related Disorders
Mastrianni, James A, MD, PhD; University of Chicago
- Genetic Prion Disease
Matalon, Reuben, MD, PhD; University of Texas Medical Branch
- Canavan Disease
Matern, Dietrich, MD, PhD; Mayo Clinic College of Medicine
- Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
Mathews, Jennifer, MS; University of North Carolina at Chapel Hill
- Angelman Syndrome
Mathieu, Jean, MD; Complexe Hospitalier de la Sagamie
- ARSACS
Matilla-Dueñas, Antoni, BSc, MSc, PhD; Germans Trias i Pujol Research Institute
- Spinocerebellar Ataxia Type 37
Matsumoto, Naomichi, MD, PhD; Yokohama City University Graduate School of Medicine
- Coffin-Siris Syndrome
Matsuura, Tohru, MD; Jichi Medical University
- Spinocerebellar Ataxia Type 10
Mattison, Kari; Mayo Clinic - Minnesota
- Dent Disease
Matton, Charlotte, MSc; Ghent University
- Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome
Mavrogiannis, Lampros A, DPhil, MSc; St James's University Hospital
- Enlarged Parietal Foramina
Mazzanti, Andrea, MD, PhD; ICS Maugeri
- Catecholaminergic Polymorphic Ventricular Tachycardia
Mazzeu, Juliana, PhD; University of Brasília
- Autosomal Dominant Robinow Syndrome
McCarthy, Liam, MD; Birmingham Women's and Children's Hospital
- WFS1 Spectrum Disorder
McCormick, Elizabeth M, MS; Children's Hospital of Philadelphia
- Primary Pyruvate Dehydrogenase Complex Deficiency Overview
McCormick, Sally PA, PhD; University of Otago
- Tangier Disease
McCray, Brett A, MD, PhD; Johns Hopkins University School of Medicine
- Autosomal Dominant TRPV4 Disorders
McDaniel, D Olga, PhD; University of Mississippi Medical Center
- Spinocerebellar Ataxia Type 3
McDermott, Deborah A, MS; Consultant, Human Genetics and Genetic Counseling
- Holt-Oram Syndrome
McDonald-McGinn, Donna M, MS; Children's Hospital of Philadelphia
- 22q11.2 Deletion Syndrome
McDonald, Jamie, MS; University of Utah Medical Center
- Hereditary Hemorrhagic Telangiectasia
McDonell, Laura M, MD, PhD; Dalhousie University
- Microcephaly-Capillary Malformation Syndrome
McFarland, Robert, MA, MBBS, PhD; Newcastle University
- RRM2B Mitochondrial DNA Maintenance Defects
McFarquhar, Ashley, BSc; McGill University
- Spondylometaphyseal Dysplasia, Corner Fracture Type
McGarrity, Thomas J, MD; Milton S Hershey Medical Center
- Peutz-Jeghers Syndrome
McGovern, Margaret M, MD, PhD; Stony Brook University School of Medicine
- Acid Sphingomyelinase Deficiency
McIntosh, Iain, PhD; American University of the Caribbean
- Nail-Patella Syndrome
McLean, WH Irwin, DSc; University of Dundee
- Pachyonychia Congenita
McMullin, Mary Frances, MD; Queens University
- Primary Familial and Congenital Polycythemia
McNally, Elizabeth, MD, PhD; University of Chicago
- Arrhythmogenic Right Ventricular Cardiomyopathy Overview
McNiven, Vanda, MD, MSc; McMaster Children's Hospital
- Au-Kline Syndrome
McTaggart, Kerry, MSc; National Institutes of Health
- Choroideremia
McTague, Amy, MBChB; UCL Great Ormond Street Institute of Child Health
- SLC12A5-Related Epilepsy of Infancy with Migrating Focal Seizures
Medin, Jeffrey A, PhD; Medical College of Wisconsin
- ASAH1-Related Disorders
Medne, Livija, MS; Children's Hospital of Philadelphia
- Emanuel Syndrome
Mefford, Heather C, MD, PhD; St Jude Children's Research Hospital
- 15q13.3 Recurrent Deletion
- 17q12 Recurrent Duplication
- CHD2-Related Neurodevelopmental Disorders
- SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders
Mehta, Atul, MA, MD; Royal Free Hospital and University College London School of Medicine
- Fabry Disease
Mehta, Parinda A, MD; Cincinnati Children's Hospital Medical Center
- Fanconi Anemia
Meijer, Inge A, MD, PhD; Université de Montréal
- Spastic Paraplegia 8
- VPS13D Movement Disorder
Meisler, Miriam H, PhD; University of Michigan
- SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders
Mele, Caterina, Biol Sci D; Istituto di Ricerche Farmacologiche Mario Negri–IRCCS
- Genetic Atypical Hemolytic-Uremic Syndrome
Mellerio, Jemima, BSc, MBBS, MD; Guy's and St Thomas' NHS Foundation Trust
- Hidrotic Ectodermal Dysplasia 2
Mellgren, Anne Elisabeth Christensen, MD, PhD; University of Bergen
- ADAMTSL4-Related Eye Disorders
Melo de Gusmao, Claudio, MD; Boston Children's Hospital
- DRPLA
Meltzer, Meira Rina, MA, MS; National Institutes of Health
- Choroideremia
- X-Linked Congenital Retinoschisis
Mendonca, Berenice B, MD; Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
- PROP1-Related Combined Pituitary Hormone Deficiency
Mendoza-Londono, Roberto, MD, MS; The Hospital for Sick Children and University of Toronto
- Caffey Disease
- Cleidocranial Dysplasia Spectrum Disorder
- MBD5 Haploinsufficiency
Menezes, Simone, BS; UTHealth School of Dentistry at Houston
- Nonsyndromic Tooth Agenesis Overview
Mercier, Sandra, MD, PhD; Service de Génétique médicale – CHU
- Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis
Mercimek-Andrews, Saadet, MD, PhD; University of Alberta
- Creatine Deficiency Disorders
- STXBP1 Encephalopathy with Epilepsy
Merideth, Melissa A, MD, MPH; National Human Genome Research Institute
- DICER1 Tumor Predisposition
Merkens, Louise S, PhD; Oregon Health & Science University
- Sitosterolemia
Merla, Giuseppe; University of Naples Federico II
- GNB5-Related Neurodevelopmental Disorder
Meroni, Germana, PhD; University of Trieste
- MID1-Related Opitz G/BBB Syndrome
Merritt, J Lawrence, MD; Seattle Children's Hospital
- Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
Mervis, Carolyn B, PhD; University of Louisville
- 7q11.23 Duplication Syndrome
Mesika, Aviv; Bar-Ilan University
- INSR-Related Severe Insulin Resistance Syndrome
Messiaen, Ludwine, MD; University of Alabama
- LZTR1- and SMARCB1-Related Schwannomatosis
Messinger, Yoav, MD; Children’s Hospitals and Clinics of Minnesota
- DICER1 Tumor Predisposition
Meyer, Esther, PhD; UCL Great Ormond Street Institute of Child Health
- SLC39A14 Deficiency
Miceli, Francesco, PhD; University of Naples Federico II
- KCNQ2-Related Disorders
- KCNQ3-Related Disorders
Michaelides, Michel, BSc, MBBS, MD; University College London
- Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview
Michael, Julianne, MS; Spectrum Health
- Bachmann-Bupp Syndrome
Michals-Matalon, Kimberlee, PhD, RD; University of Houston
- Canavan Disease
Michaud, Jacques L, MD; CHU Ste-Justine Research Center
- SYNGAP1-Related Intellectual Disability
Michelucci, Roberto, MD, PhD; Bellaria Hospital
- Autosomal Dominant Epilepsy with Auditory Features
Milewicz, Dianna M, MD, PhD; University of Texas Health Science Center
- Heritable Thoracic Aortic Disease Overview
Miller, Daniel Guthrie, MD, PhD; Seattle Children's Hospital
- Facioscapulohumeral Muscular Dystrophy
- FGFR Craniosynostosis Syndromes Overview
Miller, David T, MD, PhD; Boston Children's Hospital / Harvard Medical School
- 16p11.2 Recurrent Deletion
- Dystrophinopathies
Miller, Ian O, MD; Miami Children's Hospital
- SCN1A-Related Seizure Disorders
Miller, Jennifer L, MD, MS; University of Florida College of Medicine
- Prader-Willi Syndrome
Miller, Timothy M, MD, PhD; Washington University School of Medicine
- TARDBP-Related Amyotrophic Lateral Sclerosis-Frontotemporal Dementia
Miller, Vanessa Rangel, MS; Emory University
- Mowat-Wilson Syndrome
Milliner, Dawn S, MD; Mayo Clinic
- Dent Disease
- Primary Hyperoxaluria Type 1
- Primary Hyperoxaluria Type 3
Mills, Philippa B, PhD; UCL Great Ormond Street Institute of Child Health
- Hypermanganesemia with Dystonia 1
- PNPO Deficiency
- SLC39A14 Deficiency
Milstone, Leonard M, MD; Yale University
- Pachyonychia Congenita
Miltenberger-Miltenyi, Gabriel, MD; Universidade de Lisboa
- VPS13A Disease
Milunsky, Jeff Mark, MD; Center for Human Genetics, Inc
- Branchiooculofacial Syndrome
- Waardenburg Syndrome Type I
Minetti, Carlo, MD; Gaslini Institute
- Hypomyelination and Congenital Cataract
Min, Rogier, PhD; Amsterdam University Medical Center
- CLCN2-Related Leukoencephalopathy
- Megalencephalic Leukoencephalopathy with Subcortical Cysts
Min, Sang Hee, MD; Albert Einstein College of Medicine
- Hereditary Folate Malabsorption
Miraglia del Giudice, Emanuele, MD; Second University of Naples
- KCNQ2-Related Disorders
- KCNQ3-Related Disorders
Mirzaa, Ghayda, MD; Seattle Children's Research Institute
- Microcephaly-Capillary Malformation Syndrome
- MPPH Syndrome
- PIK3CA-Related Overgrowth Spectrum
- Polymicrogyria Overview
- PPP2R5D-Related Neurodevelopmental Disorder
Misko, Albert, MD, PhD; Massachusetts General Hospital / Harvard Medical School
- Molybdenum Cofactor Deficiency
- Mucolipidosis IV
Mitchell, Amanda, MS; Oregon Health Sciences University
- Bietti Crystalline Dystrophy
Mitchell, Elyse, MS; Mayo Clinic
- 17q12 Recurrent Duplication
Mitchell, John J, MD; McGill University
- Phenylalanine Hydroxylase Deficiency
Mitchel, Marissa W, MS; Geisinger Health System
- 16p11.2 Recurrent Deletion
- 17q12 Recurrent Deletion Syndrome
- CHD8-Related Neurodevelopmental Disorder with Overgrowth
Mittaz-Crettol, Lauréane, PhD; Lausanne University Hospital
- Achondrogenesis Type 1B
- Atelosteogenesis Type 2
- Diastrophic Dysplasia
- SLC26A2-Related Multiple Epiphyseal Dysplasia
Miyajima, Hiroaki, MD; Hamamatsu University School of Medicine
- Aceruloplasminemia
Miyake, Christina Y, MD, MS; Baylor College of Medicine
- TANGO2 Deficiency
Moeschler, John, MD, MS; Geisel School of Medicine/Dartmouth College
- 16p12.2 Recurrent Deletion
Mohassel, Payam, MD; National Institute of Neurological Disorders and Stroke
- Collagen VI-Related Dystrophies
Mohnach, Lauren, MS; University of Michigan
- Nonsyndromic Disorders of Testicular Development Overview
Moi, Paolo, MD; Ospedale Regionale per le Microcitemie
- Alpha-Thalassemia
Monaco, Anthony P, MD, PhD; Tufts University
- VPS13A Disease
Moog, Ute, MD; Heidelberg University
- CASK Disorders
- Encephalocraniocutaneous Lipomatosis
Moore, Anthony T, BM BCh, MA; University of California San Francisco
- Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview
- PAX6-Related Aniridia
Moosajee, Mariya, BSc, MBBS, PhD; Moorfields Eye Hospital
- PAX6-Related Aniridia
Morales Corado, J Andres, MBBS; Columbia University
- Carnitine-Acylcarnitine Translocase Deficiency
Morales, Ana, MS; The Ohio State University
- Dilated Cardiomyopathy Overview
- LMNA-Related Dilated Cardiomyopathy
Moran, Rocio T, MD; The MetroHealth System
- Stickler Syndrome
Morava, Eva, MD, PhD; Mayo Clinic
- SERAC1 Deficiency
Moreau, Lisa, MS; Dana Farber Cancer Institute
- Fanconi Anemia
Moreira Marques, Juliana, PhD; Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
- PROP1-Related Combined Pituitary Hormone Deficiency
Moreira, Maria-Ceu, MSc, PhD; Professor of Molecular Biology and Genetics
- Ataxia with Oculomotor Apraxia Type 1
- Ataxia with Oculomotor Apraxia Type 2
Morel Swols, Dayna, MS; University of Miami Miller School of Medicine
- KBG Syndrome
Moreno-De-Luca, Daniel, BSc, MD; Brown University
- 17q12 Recurrent Deletion Syndrome
Moretti-Ferreira, Danilo, PhD; Sao Paulo State University
- Oral-Facial-Digital Syndrome Type I
Morgan, Angela, PhD; University of Melbourne
- FOXP1 Syndrome
- FOXP2-Related Speech and Language Disorder
- Koolen-de Vries Syndrome
- SETBP1 Haploinsufficiency Disorder
Morimoto, Marie, PhD; National Human Genome Research Institute
- Chediak-Higashi Syndrome
- Schimke Immunoosseous Dysplasia
Morizono, Hiroki, PhD; Children's National Hospital
- Ornithine Transcarbamylase Deficiency
Morleo, Manuela, PhD; Federico II University
- Microphthalmia with Linear Skin Defects Syndrome
Mornet, Etienne, PhD; Centre Hospitalier de Versailles
- Hypophosphatasia
Morotti, Raffaella, MD; Yale School of Medicine
- ATP8B1 Deficiency
Morris, Colleen A, MD; University of Nevada, Reno School of Medicine
- 7q11.23 Duplication Syndrome
- Williams Syndrome
Morrison, Leslie, MD; University of New Mexico
- Familial Cerebral Cavernous Malformation
Morrow, Eric M, MD, PhD; Brown University
- Christianson Syndrome
Mortier, Geert R, MD, PhD; University Hospitals Leuven
- Multiple Epiphyseal Dysplasia, Dominant
- Stickler Syndrome
- X-Linked Hypophosphatemia
Mortimer, Peter, MD; St George's, University of London
- Lymphedema-Distichiasis Syndrome
- Milroy Disease
Morton, D Holmes, MD; Clinic for Special Children
- Maple Syrup Urine Disease
Moser, Ann B, BA; Kennedy Krieger Institute
- Rhizomelic Chondrodysplasia Punctata Type 1
- X-Linked Adrenoleukodystrophy
- Zellweger Spectrum Disorder
Moser, Hugo W, MD; Kennedy Krieger Institute
- X-Linked Adrenoleukodystrophy
- Zellweger Spectrum Disorder
Moskowitz, Samuel M, MD; Massachusetts General Hospital
- Cystic Fibrosis
Motulsky, Arno G, MD; University of Washington
- HFE-Related Hemochromatosis
Moufawad El Achkar, Christelle, MD; Harvard Medical School
- PRRT2-Associated Paroxysmal Movement Disorders
Mroczek, Magdalena, MD; University College London
- WARS2 Deficiency
Mucha, Bettina E, MD; Sainte-Justine Hospital
- TBC1D24-Related Disorders
Muenke, Maximilian, MD; American College of Medical Genetics and Genomics
- Holoprosencephaly Overview
- Muenke Syndrome
Mullegama, Sureni V, PhD; Sam Houston State University
- MBD5 Haploinsufficiency
Mulle, Jennifer Gladys, MHSc, PhD; Rutgers University
- 3q29 Recurrent Deletion
Munns, Craig, MBBS, PhD; The Children's Hospital at Westmead
- SHOX Deficiency Disorders
Muram-Zborovski, Talia, MD; University of Utah
- Legius Syndrome
Muraresku, Colleen, MS; Children's Hospital of Philadelphia
- TRMU Deficiency
Murdock, David, MD; Baylor College of Medicine
- Xia-Gibbs Syndrome
Murphy, Melissa M, PhD; Emory University School of Medicine
- 3q29 Recurrent Deletion
Murray, Jeffrey C, MD; University of Iowa
- IRF6-Related Disorders
Murray, Michael F, MD; Geisinger Health System
- Lysosomal Acid Lipase Deficiency
Murray, Mitzi L, MA, MD; University of Washington
- Vascular Ehlers-Danlos Syndrome
Myers, Kasiani, MD; Cincinnati Children’s Hospital Medical Center
- Shwachman-Diamond Syndrome
Myers, Kenneth A, MD, PhD; University of Melbourne
- GRIN2A-Related Speech Disorders and Epilepsy
Myers, Scott M, MD; Geisinger Health System
- 17q12 Recurrent Deletion Syndrome
- CHD8-Related Neurodevelopmental Disorder with Overgrowth
Mymin, David, MBBCh; University of Manitoba
- Sitosterolemia
Myrie, Semone B, PhD; University of Manitoba
- Sitosterolemia
Mäkitie, Outi, MD, PhD; University of Helsinki and Helsinki University Hospital
- Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders
Méneret, Aurélie, MD, PhD; Institut du Cerveau et de la Moelle épinière
- Congenital Mirror Movements
Möller, Birk; University of Cologne
- DYNC1H1-Related Disorders
Müller, Juliane S, PhD; University of Cambridge
- Congenital Myasthenic Syndromes Overview
Münchau, Alexander, MD; University of Lübeck
- Hereditary Dystonia Overview
Mütze, Ulrike, MD; University Hospital Heidelberg
- Classic Isovaleric Acidemia

Nabais Sá, Maria J, MD, MPH, PhD; Radboud University Medical Center
- Gabriele-de Vries Syndrome
Nagamani, Sandesh C Sreenath, MBBS, MD; Baylor College of Medicine
- Argininosuccinate Lyase Deficiency
Nagappa, Madhu, MD; National Institute of Mental Health & Neurosciences
- Huppke-Brendel Syndrome
- Isolated Sulfite Oxidase Deficiency
Nagaraj, Chinmayee B, MS; Cincinnati Children's Hospital
- Autoimmune Lymphoproliferative Syndrome
- WAS-Related Disorders
Nagy, Amanda, MD; Massachusetts General Hospital
- Canavan Disease
Nagy, Sara, MD, MSc; University College London
- WARS2 Deficiency
Nahhas, Norah, MD; Children’s National Health System
- LMNB1-Related Autosomal Dominant Leukodystrophy
- Pelizaeus-Merzbacher-Like Disease 1
- TUBB4A-Related Leukodystrophy
Naidu, Sakkubai, MD; Kennedy Krieger Institute
- Alexander Disease
Nakano, Taizo A, MD; Children's Hospital Colorado
- Monosomy 7 Predisposition Syndromes Overview
Nakaya Fletcher, Shelley, BS; BloodWorks Northwest
- Hemophilia A
- Hemophilia B
Namavar, Yasmin, MSc; University of Amsterdam
- TSEN54 Pontocerebellar Hypoplasia
Nance, Martha A, MD; Hennepin County Medical Center
- Cockayne Syndrome
Napolitano, Carlo, MD, PhD; ICS Maugeri
- CACNA1C-Related Disorders
- Catecholaminergic Polymorphic Ventricular Tachycardia
Narayanan, Dhanya Lakshmi, MD; Kasturba Medical College, Manipal
- EBF3 Neurodevelopmental Disorder
- ISCA1-Related Multiple Mitochondrial Dysfunctions Syndrome
- LPIN2-Related Majeed Syndrome
Narayan, Srinivas B, PhD; Children's Hospital of Philadelphia
- Carnitine Palmitoyltransferase 1A Deficiency
Narumi, Satoshi, MD, PhD; National Research Institute for Child Health and Development
- MIRAGE Syndrome
Nash, David R, MD; University of Pittsburgh
- ZAP70-Related Combined Immunodeficiency
Nasir, Ramzi, MD, MPH; Boston Children's Hospital
- 16p11.2 Recurrent Deletion
Nattakom, Mary, BA; Columbia University
- PPP2R5D-Related Neurodevelopmental Disorder
Navas, Placido, PhD; Universidad Pablo de Olavide
- Primary Coenzyme Q10 Deficiency Overview
Naylor, Rochelle, MD; University of Chicago
- Maturity-Onset Diabetes of the Young Overview
Need, Anna, PhD; Imperial College London
- NGLY1-Related Congenital Disorder of Deglycosylation
Neilan, Edward G, MD, PhD; Harvard Medical School
- Cockayne Syndrome
Neiman, Aaron, PhD; Stony Brook University
- VPS13A Disease
Neira-Fresneda, Juanita, MD; Baylor College of Medicine
- Potocki-Lupski Syndrome
Nelson, Adam, MBBS; Cincinnati Children's Hospital Medical Center
- Shwachman-Diamond Syndrome
Nelson, David L, PhD; Baylor College of Medicine
- Incontinentia Pigmenti
Nemes, Karolina, MD, PhD; University Medical Center Augsburg
- Rhabdoid Tumor Predisposition Syndrome
Nemeth, Andrea H, DPhil; Churchill Hospital and Institute of Molecular Medicine
- Hereditary Dystonia Overview
Nesterova, Galina, MD; NIH
- Cystinosis
Netchine, Irene, MD, PhD; Hôpital Armand Trousseau
- Silver-Russell Syndrome
Neufeld, Ellis J, MD, PhD
- Thiamine-Responsive Megaloblastic Anemia Syndrome
Neuhaus, Emily, PhD; University of Washington
- CHD8-Related Neurodevelopmental Disorder with Overgrowth
Neuser, Sonja, MD; University of Leipzig Medical Center
- TECPR2-Related Hereditary Sensory and Autonomic Neuropathy with Intellectual Disability
Newman, William G, MA, PhD; University of Manchester and Manchester University NHS Foundation Trust
- Perrault Syndrome
- Urofacial Syndrome
New, Maria I, PhD; Mount Sinai School of Medicine
- 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
Nguyen, Matthew Huu, MD; University of New South Wales
- CLCN4-Related Neurodevelopmental Disorder
Nichols, Colin G, PhD; Washington University School of Medicine
- Cantú syndrome
Nichols, Kim E, MD; St Jude Children's Research Hospital
- Familial Hemophagocytic Lymphohistiocytosis
- Li-Fraumeni Syndrome
Nicholson, Garth A, MBBS, PhD; University of Sydney
- SPTLC1-Related Hereditary Sensory Neuropathy
Nicklas, Janice A, PhD; University of Vermont
- HPRT1 Disorders
Nicole, Sophie, PhD; Groupe Hospitalier Pitié-Salpêtrière
- Hypokalemic Periodic Paralysis
Nicoli, Elena-Raluca, PharmR, PhD; National Human Genome Research Institute
- Chediak-Higashi Syndrome
Nielsen, Jørgen E, MD, PhD; Rigshospitalet
- CHMP2B Frontotemporal Dementia
Nielsen, Maartje, MD, PhD; Leiden University Medical Center
- MUTYH Polyposis
- NTHL1 Tumor Syndrome
Nielsen, Troels T, MSc, PhD; Rigshospitalet
- CHMP2B Frontotemporal Dementia
Niewisch, Marena R, MD; National Cancer Institute, NIH
- Dyskeratosis Congenita and Related Telomere Biology Disorders
Niinikoski, Harri, MD, PhD; University of Turku
- Lysinuric Protein Intolerance
Nikali, Kaisu, MD; University College London
- Infantile-Onset Spinocerebellar Ataxia
Nikkel, Sarah M, MD; BC Children's Hospital
- Floating-Harbor Syndrome
- Hypochondroplasia
Nillesen, Willy M, BSc; Radboud University Medical Center
- Kleefstra Syndrome
Nilssen, Øivind, PhD; University of Tromsø
- Alpha-Mannosidosis
Nimkarn, Saroj, MD; Bumrungrad Hospital
- 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
Nisbet, Alex F, BS; Children's Hospital of Philadelphia
- Simpson-Golabi-Behmel Syndrome Type 1
Nishi, Mirian Yumie, PhD; Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
- PROP1-Related Combined Pituitary Hormone Deficiency
Nishino, Ichizo, MD, PhD; National Institute of Neuroscience
- CHKB-Related Muscular Dystrophy
Nishio, Shin-ya, PhD; Shinshu University School of Medicine
- Nonsyndromic Hearing Loss and Deafness, Mitochondrial
Nobile, Carlo; CNR Institute of Neuroscience
- Autosomal Dominant Epilepsy with Auditory Features
Noonan, Kristin M, MD; The Medical College of Wisconsin
- Donnai-Barrow Syndrome
Noon, Sarah Elizabeth, MS; The Children's Hospital of Philadelphia
- Cornelia de Lange Syndrome
Noreau, Anne, MSc; University of Montreal
- SYNE1 Deficiency
Noris, Marina, PhD; Istituto di Ricerche Farmacologiche Mario Negri–IRCCS
- Genetic Atypical Hemolytic-Uremic Syndrome
Northrup, Hope, MD; McGovern Medical School
- Mucopolysaccharidosis Type III
- Tuberous Sclerosis Complex
Nowaczyk, Malgorzata JM, MD; McMaster University
- Floating-Harbor Syndrome
- Smith-Lemli-Opitz Syndrome
Nozaki, Hiroaki, MD, PhD; Niigata University
- HTRA1 Disorder
Nunes Guimaraes, Izolda, PhD; Sao Paulo State University
- Oral-Facial-Digital Syndrome Type I
Nunes, Mark E, MD; Valley Children's Hospital
- Hypophosphatasia
Nunes, Virginia, PhD; University of Barcelona
- Lysinuric Protein Intolerance
Nussbaum, Robert L, MD; Invitae Corporation
- Lowe Syndrome
Nyhan, William L, MD, PhD; University of California San Diego
- HPRT1 Disorders

O'Brien, Kevin J, RN; National Human Genome Research Institute
- Hermansky-Pudlak Syndrome
O'Donnell-Luria, Anne, MD, PhD; Boston Children's Hospital
- KMT2E-Related Neurodevelopmental Disorder
O'Ferrall, Erin, MD, MSc; Montreal Neurological Institute
- GNE Myopathy
O'Neill, J Patrick, PhD; University of Vermont
- HPRT1 Disorders
O'Toole, Edel, MD, PhD; University of London
- Pachyonychia Congenita
Ocansey, Sharon, BSc, MBBS, MSc; St George's University Hospital NHS Foundation Trust
- EZH2-Related Overgrowth
Oddoux, Carole, PhD; New York University School of Medicine
- NTRK1 Congenital Insensitivity to Pain with Anhidrosis
Oetgen, Matthew, MD; Children's National Medical Center
- Mucopolysaccharidosis Type IVA
Oglesbee, Devin, PhD; Mayo Clinic
- Short-Chain Acyl-CoA Dehydrogenase Deficiency
Oishi, Kimihiko, MD; Jikei University School of Medicine
- Thiamine-Responsive Megaloblastic Anemia Syndrome
Okialda, Krystle A, BS; University of Washington
- Bietti Crystalline Dystrophy
Okur, Volkan, MD; New York Genome Center
- Okur-Chung Neurodevelopmental Syndrome
Oliveira, Joao, MD, PhD; Federal University of Pernambuco
- Primary Familial Brain Calcification
Oliveira, Jorge, MSc, PhD; Universidade do Porto
- LAMA2 Muscular Dystrophy
Oliver Petit, Isabelle, MD; Children's Hospital
- Allan-Herndon-Dudley Syndrome
Olney, Ann Haskins, MD; University of Nebraska Medical Center
- SLC25A24 Fontaine Progeroid Syndrome
Olson, Heather, MD, MS; Boston Children's Hospital
- CDKL5 Deficiency Disorder
Olson, Timothy S, MD, PhD; Children's Hospital of Philadelphia
- MIRAGE Syndrome
- Monosomy 7 Predisposition Syndromes Overview
Ombrello, Amanda, MD; National Human Genome Research Institute
- TNF Receptor-Associated Periodic Fever Syndrome
Ong, Thida, MD; University of Washington School of Medicine
- Cystic Fibrosis
Onodera, Osamu, MD, PhD; Niigata University
- HTRA1 Disorder
- Spinocerebellar Ataxia Type 17
Opal, Puneet, MD, PhD; Northwestern University Feinberg School of Medicine
- GAN-Related Neurodegeneration
- Spinocerebellar Ataxia Type 1
Ordonez, Jessica L, MS; Miami Cancer Institute - Baptist Health South Florida
- Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia
- Deafness and Myopia Syndrome
Origa, Raffaella, MD; Ospedale Pediatrico Microcitemico Antonio Cao
- Alpha-Thalassemia
- Beta-Thalassemia
Orrell, Richard W, BSc, MD; University College London
- ALS2-Related Disorder
Orsini, Joseph J, PhD; Wadsworth Center - New York State Department of Health
- Krabbe Disease
Orten, Dana J, PhD; Boys Town National Research Hospital
- Usher Syndrome Type II
Orthmann-Murphy, Jennifer, MD, PhD; Johns Hopkins University
- Pelizaeus-Merzbacher-Like Disease 1
Ortiz-Gonzalez, Xilma, MD, PhD; Children's Hospital of Philadelphia
- SPTBN4 Disorder
Osborne, Jenae, MS; University of Michigan
- POT1 Tumor Predisposition
Osborne, Lucy R, PhD; University of Toronto
- 7q11.23 Duplication Syndrome
Oshima, Junko, MD, PhD; University of Washington
- Werner Syndrome
Ostergaard, Elsebet, MD, PhD; National University Hospital Rigshospitalet
- SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria
Ostergaard, Pia; St George's, University of London
- Milroy Disease
Ostrer, Harry, MD; New York University School of Medicine
- Nonsyndromic Disorders of Testicular Development Overview
Ostrowski, Philip J, MD; St George's University Hospitals NHS Foundation Trust
- Tatton-Brown-Rahman Syndrome
Oswald, Gretchen L, MS; Johns Hopkins Medical Center
- Chondrodysplasia Punctata 1, X-Linked
Othman, Amna A, MBBCh; National Human Genome Research Institute
- Osteoglophonic Dysplasia
Ottman, Ruth, PhD; Columbia University
- Autosomal Dominant Epilepsy with Auditory Features
Ozelius, Laurie, PhD; Massachusetts General Hospital
- ATP1A3-Related Neurologic Disorders
- DYT1 Early-Onset Isolated Dystonia
- SGCE Myoclonus-Dystonia

Paciorkowski, Alex R, MD; University of Rochester Medical Center
- PURA-Related Neurodevelopmental Disorders
Padiath, Quasar, MBBS, PhD; University of Pittsburgh
- LMNB1-Related Autosomal Dominant Leukodystrophy
Pagon, Roberta A, MD; University of Washington
- Nonsyndromic Retinitis Pigmentosa Overview
- Spinocerebellar Ataxia Type 7
Paisey, Richard B, MD; Torbay Hospital
- Alstrom Syndrome
Pais, Lynn, MS, MSc; Boston Children's Hospital
- KMT2E-Related Neurodevelopmental Disorder
Pallais, J Carl, MD, MPH; Massachusetts General Hospital
- Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency
Palmer, Elizabeth, MBBS, PhD; University of New South Wales
- ATN1-Related Neurodevelopmental Disorder
- CLCN4-Related Neurodevelopmental Disorder
Palmio, Johanna, MD, PhD; University of Tampere
- ANO5 Muscle Disease
Paloneva, Juha, MD, PhD; Central Finland Hospital Nova
- Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy
Palsson, Runolfur, MD; The National University Hospital of Iceland
- Adenine Phosphoribosyltransferase Deficiency
Pal, Tuya, MD; Vanderbilt-Ingram Cancer Center
- BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer
Pandya, Arti, MBA, MD; Virginia Commonwealth University Health System
- Nonsyndromic Hearing Loss and Deafness, Mitochondrial
Pankratz, Nathan D, PhD; Indiana University School of Medicine
- Parkinson Disease Overview
Papanikalaou, George, MD, PhD; National and Kapodistrian University of Athens
- Juvenile Hemochromatosis
Papapoulos, Socrates, MD, PhD; Leiden University Medical Center
- SOST-Related Sclerosing Bone Dysplasias
Pappas, John G, MD, MS; NYU Grossman School of Medicine
- SETD2 Neurodevelopmental Disorders
Paquis-Flucklinger, Véronique, MD, PhD; Nice Hospital
- CHCHD10-Related Disorders
Parboosingh, Jillian S, PhD; University of Calgary
- VLDLR Cerebellar Hypoplasia
Parente Freixo, João, MD; Universidade do Porto
- LAMA2 Muscular Dystrophy
Pariani, Mitchel, MS; Stanford Center for Inherited Cardiovascular Disease
- Familial Hypercholesterolemia
Parisi, Melissa A, MD, PhD; National Institute of Child Health & Human Development
- Joubert Syndrome
Parker, Alasdair Patrick John, MA, MBBS, MD; Addenbrooke’s Hospital
- Congenital Insensitivity to Pain Overview
Parker, Charles J, MD; University of Utah School of Medicine
- HFE-Related Hemochromatosis
Parkin, Kimberly; Massachusetts General Hospital
- Pitt-Hopkins Syndrome
Park, Julien H, Dr. med.; Universitätsklinikum Münster
- SLC39A8-CDG
Park, Julie R, MD; Seattle Children's Hospital
- ALK-Related Neuroblastic Tumor Susceptibility
Parks, Sharie B, PhD; Oregon Health and Science University
- Dilated Cardiomyopathy Overview
Parodi, Livia, PhD; Sorbonne Université – Pitié-Salpêtrière University Hospital
- Spastic Paraplegia 4
Pascotto, Antonio, MD; Second University of Naples
- KCNQ2-Related Disorders
Pascual, Juan M, MD, PhD; University of Texas Southwestern Medical Center
- Glucose Transporter Type 1 Deficiency Syndrome
Passarge, Eberhard, MD; University of Essen
- Retinoblastoma
Passemard, Sandrine, MD, PhD; APHP-Robert Debré University Hospital
- ASPM Primary Microcephaly
- WDR62 Primary Microcephaly
Pastores, Gregory M, MD; University College
- Gaucher Disease
Patel, Heema, PhD; St George's, University of London
- Troyer Syndrome
Patel, Millan S, MD, MSc; University of British Columbia
- Isolated and Classic Cutis Marmorata Telangiectatica Congenita
Patel, Neepa Jayant, MD; Henry Ford Health System
- NKX2-1-Related Disorders
Patel, Pragna I, PhD; Nagoya University Graduate School of Medicine
- Friedreich Ataxia
Patel, Swati G, MD, MS; University of Colorado Anschutz Medical Center
- APC-Associated Polyposis Conditions
Patterson, Marc, MD; Mayo Clinic
- Niemann-Pick Disease Type C
Patwari, Pallavi P, MD; Children's Memorial Hospital
- Congenital Central Hypoventilation Syndrome
Pauli, Richard M, MD, PhD; University of Wisconsin
- Achondroplasia
Paulson, Henry, MD, PhD; University of Michigan Medical School
- Spinocerebellar Ataxia Type 3
Pearl, Phillip L, MD; George Washington University School of Medicine
- Succinic Semialdehyde Dehydrogenase Deficiency
Pearson, Deborah A, PhD; McGovern Medical School
- Tuberous Sclerosis Complex
Pearson, Toni S, MBBS, MD; Nationwide Children's Hospital
- Aromatic L-Amino Acid Decarboxylase Deficiency
Pecci, Alessandro, MD, PhD; IRCCS Policlinico San Matteo Foundation
- MYH9-Related Disease
Peikert, Kevin, MD; University Medical Center Rostock
- McLeod Neuroacanthocytosis Syndrome
- VPS13A Disease
Pellerin, David, MD, MSc; University College London
- GAA-FGF14-Related Ataxia
Pelzer, Nadine, MD, PhD; Leiden University Medical Center
- Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations
Pena, Izabella, PhD; Massachusetts Institute of Technology
- PLPBP Deficiency
Pencheva, Bojana, MMSc; Emory University School of Medicine
- ETV6 Thrombocytopenia and Predisposition to Leukemia
Pendyal, Surekha, MEd, MSc, RD; Duke University Medical Center
- Glycogen Storage Disease Type I
Pennesi, Mark E, MD, PhD; Casey Eye Institute - Oregon Health & Science University
- Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview
- RPE65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy
Penttilä, Sini, PhD; Fimlab Laboratories
- ANO5 Muscle Disease
Pepin, Melanie G, MS; University of Washington Medical Center
- COL1A1/2 Osteogenesis Imperfecta
- Vascular Ehlers-Danlos Syndrome
Percy, Melanie, PhD; Belfast City Hospital
- Primary Familial and Congenital Polycythemia
Perez Botero, Juliana, MD; BloodCenter of Wisconsin
- ANKRD26-Related Thrombocytopenia
Perlman, Susan, MD; David Geffen School of Medicine at UCLA
- Ataxia-Telangiectasia
- Hereditary Ataxia Overview
Peron, Angela, MD; San Paolo Hospital, Università degli Studi di Milano
- BCL11A-Related Intellectual Disability
- Snyder-Robinson Syndrome
Perrier, Nancy D, MD; University of Texas MD Anderson Cancer Center
- CDC73-Related Disorders
Perry, Monique, MD; Clinical Center - National Institutes of Health
- Alkaptonuria
Pescosolido, Matthew F, BA; Brown University
- Christianson Syndrome
Pessia, Mauro, PhD; Istituto Euro-Mediterraneo di Scienza e Tecnologia
- Episodic Ataxia Type 1
Petit, Florence, MD, PhD; CHU de Lille
- Thrombocytopenia Absent Radius Syndrome
Petrovic, Aleksandra, MD; University of Washington
- X-Linked Severe Combined Immunodeficiency
Petrucelli, Nancie, MS; Karmanos Cancer Institute, Cancer Genetic Counseling Service
- BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer
Pfautsch, Miranda; Dr Kiran C Patel College of Medicine - Tampa Bay Campus
- Spinal Muscular Atrophy, X-Linked Infantile
Pfeffer, Gerald, MD, PhD; University of Calgary
- Hereditary Myopathy with Early Respiratory Failure
Pfendner, Ellen G, PhD; GeneDx, Inc
- Dystrophic Epidermolysis Bullosa
- Epidermolysis Bullosa Simplex
- Epidermolysis Bullosa with Pyloric Atresia
- Junctional Epidermolysis Bullosa
Phelan, Katy, PhD; Florida Cancer Specialists & Research Institute
- Phelan-McDermid Syndrome
Phillips, Ian R, PhD; Queen Mary, University of London
- Primary Trimethylaminuria
Phillips, John, PhD; University of Utah School of Medicine
- Familial Porphyria Cutanea Tarda
- Hepatoerythropoietic Porphyria
Phillips, John A, MD; Vanderbilt University Medical Center
- Heritable Pulmonary Arterial Hypertension Overview
- PROP1-Related Combined Pituitary Hormone Deficiency
Phillips, Lindsay, PhD; University of Calgary
- Au-Kline Syndrome
Phornphutkul, Chanika, MD; Brown University
- Alkaptonuria
Phowthongkum, Prasit, MD; University of Washington
- SAMD9L Ataxia-Pancytopenia Syndrome
Piard, Juliette, MD; CHRU de Besançon – Hôpital Saint-Jacques
- Baller-Gerold Syndrome
Picker, Jonathan D, MBChB, PhD; Boston Children's Hospital
- Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency
Pieke-Dahl, Sandra, PhD; Ohio State University, Department of Psychology
- Usher Syndrome Type I
- Usher Syndrome Type II
Pierre, Germaine, MBBS, MSc; Bristol Royal Hospital for Children
- Barth Syndrome
Pierson, Christopher R, MD, PhD; Nationwide Children's Hospital
- X-Linked Myotubular Myopathy
Pilarski, Robert, MS, MSW; The Ohio State University
- BAP1 Tumor Predisposition Syndrome
- PTEN Hamartoma Tumor Syndrome
Pilz, Daniela T, MD, PhD; University Hospital of Wales
- Baraitser-Winter Cerebrofrontofacial Syndrome
Pinsky, Leonard, MD; McGill University
- Androgen Insensitivity Syndrome
Piperno, Alberto, MD; University of Milano-Bicocca
- Juvenile Hemochromatosis
Pithukpakorn, Manop, MD; Mahidol University
- Birt-Hogg-Dube Syndrome
- FH Tumor Predisposition Syndrome
Pitteloud, Nelly, MD; Massachusetts General Hospital
- Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency
Pitt, James, PhD; Murdoch Children's Research Institute
- Squalene Synthase Deficiency
Pizzo, Lucilla, MS; Pennsylvania State University
- 16p12.2 Recurrent Deletion
Plaisier, Emmanuelle, MD, PhD; Hôpital Tenon / Université Pierre et Marie Curie
- COL4A1-Related Disorders
Platzer, Konrad, MD; University of Leipzig Medical Center
- GRIN1-Related Neurodevelopmental Disorder
- GRIN2B-Related Neurodevelopmental Disorder
- GRIN2D-Related Developmental and Epileptic Encephalopathy
Plecko, Barbara, MD; Medical University of Graz
- PNPO Deficiency
Plitt, Gilman, MD; Cleveland Clinic
- Multiple Endocrine Neoplasia Type 2
Plon, Sharon E, MD, PhD; Baylor College of Medicine
- Rothmund-Thomson Syndrome
Plotkin, Scott, MD, PhD; Harvard Medical School and Massachusetts General Hospital
- LZTR1- and SMARCB1-Related Schwannomatosis
Pober, Barbara R, MD; MassGeneral Hospital for Children
- Congenital Diaphragmatic Hernia Overview
- Donnai-Barrow Syndrome
Poke, Gemma, BSc, MBBS; University of Otago
- GNB5-Related Neurodevelopmental Disorder
Porter, Christopher C, MD; Emory University School of Medicine
- ETV6 Thrombocytopenia and Predisposition to Leukemia
Portigal, Cheryl L, MSc; University of British Columbia
- Mucopolysaccharidosis Type I
Potocki, Lorraine, MD; Baylor College of Medicine
- GARS-Associated Axonal Neuropathy
- Potocki-Lupski Syndrome
- Smith-Magenis Syndrome
Powell, Lawrie, MD, PhD; University of Queensland
- HFE-Related Hemochromatosis
Prabhu, Sandeep, MD; University of Oklahoma
- MBTPS1-Related Spondyloepimetaphyseal Dysplasia with Elevated Lysosomal Enzymes
Prada, Carlos, MD; Ann & Robert H Lurie Children's Hospital of Chicago
- DLG4-Related Synaptopathy
Prades, Silvia, PhD; Ataxia UK
- DRPLA
Prasad, Rathi, MBBS, PhD; Queen Mary University of London
- Sphingosine Phosphate Lyase Insufficiency Syndrome
Prasad, Sai D, BS; University of Iowa Hospitals and Clinics
- Branchiootorenal Spectrum Disorder
Prasov, Lev, MD, PhD; University of Michigan Medical School
- MYRF-Related Cardiac Urogenital Syndrome
Prasun, Pankaj, MD; Icahn School of Medicine at Mount Sinai
- Lathosterolosis
- Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency
- Multiple Acyl-CoA Dehydrogenase Deficiency
Preston, Matthew K, MD; University of Washington
- Facioscapulohumeral Muscular Dystrophy
Priori, Silvia G, MD, PhD; ICS Maugeri
- CACNA1C-Related Disorders
- Catecholaminergic Polymorphic Ventricular Tachycardia
Prior, Thomas W, PhD; Case Western Reserve University
- Spinal Muscular Atrophy
Prokisch, Holger, PhD; Technische Universität München
- Mitochondrial Membrane Protein-Associated Neurodegeneration
Pronk, JC, PhD; Vrije Universiteit Medical Center
- Megalencephalic Leukoencephalopathy with Subcortical Cysts
Proudlock, Frank A, BSc, MSc, PhD; University of Leicester
- FRMD7-Related Infantile Nystagmus
Ptacek, Louis J, MD; University of California at San Francisco
- Spinocerebellar Ataxia Type 7
Puck, Jennifer M, MD; University of California San Francisco
- STAT3 Hyper IgE Syndrome
- X-Linked Severe Combined Immunodeficiency
Puffenberger, Erik G, PhD; Clinic for Special Children
- Maple Syrup Urine Disease
Pulst, Stefan M, MD; University of Utah
- Spinocerebellar Ataxia Type 13
- Spinocerebellar Ataxia Type 2
Putnam, Andrea, MS; New York Weill Cornell Center
- 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
Puzriakova, Arina, BSc, MSc; UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery
- Spinocerebellar Ataxia Type 11
Pyeritz, Reed E, MD, PhD; Hospital of the University of Pennsylvania
- Hereditary Hemorrhagic Telangiectasia
Pyle, Louise C, MD, PhD; Children’s National Medical Center
- MYRF-Related Cardiac Urogenital Syndrome
Périé, Sophie, MD, PhD; Université Pierre et Marie Curie
- Oculopharyngeal Muscular Dystrophy

Quijano-Roy, Susana, MD, PhD; University of Versailles Saint Quentin-en-Yvelines
- LAMA2 Muscular Dystrophy
Quinonez, Shane C, MD; University of Michigan
- Citrullinemia Type I
- Dihydrolipoamide Dehydrogenase Deficiency
Quintero-Rivera, Fabiola, MD; University of California, Irvine
- NFIA-Related Disorder
- Wiedemann-Steiner Syndrome
Quintáns, Beatriz, PhD; Centro de Investigación Biomédica en red de Enfermedades Raras
- Spinocerebellar Ataxia Type 36

Raas-Rothschild, Annick, MD; Sheba Medical Center, Tel HaShomer
- Mucolipidosis III Gamma
Rabin, Rachel, MS; NYU Grossman School of Medicine
- SETD2 Neurodevelopmental Disorders
Rahman, Joyeeta, BSc; UCL Great Ormond Street Institute of Child Health
- Mitochondrial DNA-Associated Leigh Syndrome and NARP
Rahman, Nazneen, BM BCh, PhD; Institute of Cancer Research
- EZH2-Related Overgrowth
- Sotos Syndrome
Rahman, Shamima, PhD; UCL Great Ormond Street Institute of Child Health
- Mitochondrial DNA-Associated Leigh Syndrome and NARP
- Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview
Rai, Karan, BS; The Ohio State University
- BAP1 Tumor Predisposition Syndrome
Raininko, Raili, MD, PhD; Uppsala University
- LMNB1-Related Autosomal Dominant Leukodystrophy
Rajan, Neil, MBBS, PhD; Royal Victoria Infirmary
- CYLD Cutaneous Syndrome
Rajasekaran, Surender, MD, MPH; Spectrum Health
- Bachmann-Bupp Syndrome
Ramnitz, Mary Scott, MD; National Institute of Dental and Craniofacial Research
- Hyperphosphatemic Familial Tumoral Calcinosis
Ramos, Eliana Marisa, PhD; University of California Los Angeles
- Primary Familial Brain Calcification
Rampoldi, Luca, PhD; Ospedale San Raffaele
- VPS13A Disease
Rana, Huma Q, MD; Dana-Farber Cancer Institute
- FH Tumor Predisposition Syndrome
Rand, Casey M, BS; Ann & Robert H Lurie Children's Hospital of Chicago
- Congenital Central Hypoventilation Syndrome
Ranum, Laura PW, PhD; University of Florida
- Myotonic Dystrophy Type 2
- Spinocerebellar Ataxia Type 8
Rappold, Gudrun A, PhD; Heidelberg University
- FOXP1 Syndrome
- SHOX Deficiency Disorders
Raskind, Wendy H, MD, PhD; University of Washington Medical Center
- ADCY5 Dyskinesia
- GATA1-Related Cytopenia
- Hereditary Multiple Osteochondromas
- SAMD9L Ataxia-Pancytopenia Syndrome
- Spinocerebellar Ataxia Type 14
Ratisoontorn, Chootima, DDS, PhD; Chulalongkorn University
- Saethre-Chotzen Syndrome
Rauen, Katherine A, MD, PhD; University of California, Davis
- Cardiofaciocutaneous Syndrome
- HRAS-Related Costello Syndrome
Rawlings, David J, MD; University of Washington
- X-Linked Severe Combined Immunodeficiency
Rawls-Castillo, Brandy, MS, RD; Baylor College of Medicine
- TANGO2 Deficiency
Raygada, Margarita, MSc, PhD; National Institutes of Health
- Carney Complex
Raymond, Deborah, MS; Icahn School of Medicine at Mount Sinai / Mount Sinai Beth Israel
- DYT1 Early-Onset Isolated Dystonia
- LRRK2 Parkinson Disease
- SGCE Myoclonus-Dystonia
Raymond, F Lucy, MD, PhD; University of Cambridge
- NSDHL-Related Disorders
Raymond, Gerald V, MD; Johns Hopkins Hospital
- X-Linked Adrenoleukodystrophy
- Zellweger Spectrum Disorder
Ray, Peter N, PhD; The Hospital for Sick Children
- Cherubism
Rea, Hannah, PhD; University of Washington
- CHD8-Related Neurodevelopmental Disorder with Overgrowth
Redfield, Shelby, MS; Boston Children's Hospital
- STRC-Related Autosomal Recessive Hearing Loss
Reding, Madeline Q, MPH, MS; Mayo Clinic
- NDP-Related Retinopathies
Redman, Colvin M, PhD; The New York Blood Center
- McLeod Neuroacanthocytosis Syndrome
Reehal, Tom; Sheffield University School of Medicine & Biomedical Sciences
- Succinic Semialdehyde Dehydrogenase Deficiency
Rees, Mark I, PhD; Swansea University
- Hereditary Hyperekplexia Overview
Refetoff, Samuel, MD; University of Chicago Medical Center
- Allan-Herndon-Dudley Syndrome
Regalado, Ellen, MS; University of Texas Health Science Center at Houston McGovern Medical School
- Heritable Thoracic Aortic Disease Overview
Regier, Debra S, MD, PhD; Rare Disease Institute - Children’s National Hospital
- GLB1-Related Disorders
- Mucopolysaccharidosis Type IVA
- Phenylalanine Hydroxylase Deficiency
Rehder, Catherine, PhD; Duke University Medical Center
- Phosphorylase Kinase Deficiency
Reichenberger, Ernst, PhD; UConnHealth
- Craniometaphyseal Dysplasia, Autosomal Dominant
Reijnders, Margot RF, MD; Radboud Unversity Medical Center
- PURA-Related Neurodevelopmental Disorders
Reilly, Mary M, MBBCh, MD; University College London
- RFC1 CANVAS / Spectrum Disorder
Reinhart, Michaela, MD; Children's Hospital of Philadelphia
- TRMU Deficiency
Reischl-Hajiabadi, Anna, MD; University Hospital Heidelberg
- Classic Isovaleric Acidemia
Reiter, Lawrence T, PhD; University of Tennessee Health Science Center
- Maternal 15q Duplication Syndrome
Remuzzi, Giuseppe, MD; Istituto di Ricerche Farmacologiche Mario Negri–IRCCS
- Genetic Atypical Hemolytic-Uremic Syndrome
Renaud, Mathilde, MD, PhD; CHRU de Nancy
- GAA-FGF14-Related Ataxia
Rendtorff, Nanna Dahl, PhD; University Hospital / Kennedy Center
- WFS1 Spectrum Disorder
Revah-Politi, Anya, MS; Columbia University Irving Medical Center
- GNB1 Encephalopathy
Riazi, Sheila, MD; University of Toronto
- Malignant Hyperthermia Susceptibility
Richard, Gabriele, MD; GeneDx, Inc
- Autosomal Recessive Congenital Ichthyosis
Richard, Pascale, PharmD, PhD; APHP, Sorbonne Université
- Oculopharyngeal Muscular Dystrophy
Richmond, Christopher Mark, MBBS; Murdoch Children’s Research Institute
- Schmid Metaphyseal Chondrodysplasia
Richter, Andrea, PhD; Sainte-Justine Hospital, University of Montreal
- ARSACS
Richter, Mary K; National Foundation for Ectodermal Dysplasias
- Hypohidrotic Ectodermal Dysplasia
Rich, Thereasa A, MS; University of Texas MD Anderson Cancer Center
- CDC73-Related Disorders
Rinaldo, Piero, MD, PhD; Mayo Clinic College of Medicine
- Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
Rioseco-Camacho, Natalia, BA; University of California, Irvine
- Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Robbins, Emily; George Washington University School of Medicine
- Succinic Semialdehyde Dehydrogenase Deficiency
Roberts, Amy E, MD; Children's Hospital Boston
- Noonan Syndrome
Roberts, Eve, MD; University of Toronto
- Wilson Disease
Robertson, David, MD; Vanderbilt University
- Dopamine Beta-Hydroxylase Deficiency
Robertson, Nic, PhD; University of Edinburgh
- RNU4atac-opathy
Robertson, Stephen, DPhil; University of Otago
- FLNB Disorders
- X-Linked Otopalatodigital Spectrum Disorders
Robin, Nathaniel H, MD; University of Alabama at Birmingham
- FGFR Craniosynostosis Syndromes Overview
- Stickler Syndrome
Robitaille, Yves, MD; Enfant-Jesus Hospital, Quebec City
- ARSACS
Rodan, Lance, MD; Boston Children's Hospital
- KMT2E-Related Neurodevelopmental Disorder
Roetto, Antonella, PhD; University of Torino
- TFR2-Related Hemochromatosis
Rogers, R Curtis, MD; Greenwood Genetic Center
- Phelan-McDermid Syndrome
- RPS6KA3-Related Intellectual Disability
Rohrbach, Marianne, MD, PhD; University Children's Hospital
- FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome
Rohrer, Jonathan, PhD; UCL Queen Square Institute of Neurology
- MAPT-Related Frontotemporal Dementia
Roifman, Maian, MD; University of Toronto
- Autosomal Dominant Robinow Syndrome
Rolle, Myron, MD; Massachusetts General Hospital
- Muenke Syndrome
Rommens, Johanna M, PhD; The Hospital for Sick Children, University of Toronto
- Shwachman-Diamond Syndrome
Ronco, Pierre M, MD, PhD; Hôpital Tenon / Université Pierre et Marie Curie
- COL4A1-Related Disorders
Roos, Peter, MD, PhD; Rigshospitalet
- CHMP2B Frontotemporal Dementia
Roscioli, Tony, MBBS, PhD; Sydney Children’s Hospital
- Hepatic Veno-Occlusive Disease with Immunodeficiency
Rosenberg, Henry, MD; Malignant Hyperthermia Association of the United States
- Malignant Hyperthermia Susceptibility
Rosenberg, Stacy Lyn, MD; Children’s Hospital of Pittsburgh
- ZAP70-Related Combined Immunodeficiency
Rosenfeld, Jill, MS; Baylor College of Medicine
- 16p12.2 Recurrent Deletion
Ross, Alison J, PhD; University College London
- Bardet-Biedl Syndrome Overview
Rossetti, Sandro, MD; Mayo Clinic
- Dent Disease
Rossi, Alessandro, MD; University of Naples "Federico II"
- Glycogen Storage Disease Type III
Rossi, Andrea, MD; G Gaslini Pediatric Institute and University of Genova
- Hypomyelination and Congenital Cataract
Rossi, Christopher T, MD; Children’s National Medical Center
- DICER1 Tumor Predisposition
Rossignol, Francis, MD; National Human Genome Research Institute
- Prolidase Deficiency
Rosso, Sonia M, MD, PhD; Havenziekenhuis
- MAPT-Related Frontotemporal Dementia
Ross, Owen A, PhD; Mayo Clinic
- LRRK2 Parkinson Disease
- VPS35-Related Parkinson Disease
Roston, Alexandra, MD; University of British Columbia
- SETD1B-Related Neurodevelopmental Disorder
Rothermel, Caroline E, BA; National Human Genome Research Institute
- GLB1-Related Disorders
Roth, Fanny, PhD; Centre de Recherche en Myologie
- Oculopharyngeal Muscular Dystrophy
Rouleau, Guy A, MD, PhD; McGill University
- Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum
- Oculopharyngeal Muscular Dystrophy
- Spastic Paraplegia 8
- SYNE1 Deficiency
Roullet, Jean-Baptiste, PhD; Washington State University
- Succinic Semialdehyde Dehydrogenase Deficiency
Rouzier, Cécile, MD, PhD; Nice Hospital
- CHCHD10-Related Disorders
Roze, Emmanuel, MD, PhD; Assistance Publique-Hôpitaux de Paris
- Congenital Mirror Movements
Ruaud, Lyse, MD, PhD; APHP-Robert Debré University Hospital
- WDR62 Primary Microcephaly
Rudnick, Sean, MD; Wake Forest University School of Medicine
- Familial Porphyria Cutanea Tarda
- Hepatoerythropoietic Porphyria
Ruivenkamp, Claudia, PhD; Leiden University Medical Center
- Peters Plus Syndrome
Rumbos Siurana, Elisa, MSc; University College London
- GRIA2-Related Neurodevelopmental Disorder
Rumsby, Gill, PhD; University College London Hospitals
- Primary Hyperoxaluria Type 2
Ruppe, Mary D, MD; The Methodist Hospital
- X-Linked Hypophosphatemia
Russell, Bianca, MD; Cincinnati Childen's Hospital
- Bohring-Opitz Syndrome
Russell, Meaghan K, MPH; MassGeneral Hospital for Children
- Congenital Diaphragmatic Hernia Overview
Russman, Barry S, MD; Oregon Health and Science University
- Spinal Muscular Atrophy
Rutkowski, Anne, MD; Cure CMD
- LAMA2 Muscular Dystrophy
Rutkowski, Timothy P, PhD; Emory University School of Medicine
- 3q29 Recurrent Deletion
Rutledge, S Lane, MD; University of Alabama at Birmingham
- Nonketotic Hyperglycinemia
Rutten, Julie, MD, PhD; Leiden University Medical Center
- CADASIL
Ryan, Brigid, PhD; University of Auckland
- MAPT-Related Frontotemporal Dementia
Ryan, Shannon, MSc; Montreal Children's Hospital
- Phenylalanine Hydroxylase Deficiency
Rydning, Siri Lynne, MD; University of Oslo
- Spastic Paraplegia 4
Récan-Budiartha, Dominique, MD; Hopital Cochin
- Emery-Dreifuss Muscular Dystrophy
Rødahl, Eyvind, MD, PhD; University of Bergen
- ADAMTSL4-Related Eye Disorders
- Congenital Stromal Corneal Dystrophy

Saal, Howard M, MD; Cincinnati Children's Hospital Medical Center
- IRF6-Related Disorders
- Silver-Russell Syndrome
Saba, Julie, MD, PhD; UCSF / Benioff Children’s Hospital
- Sphingosine Phosphate Lyase Insufficiency Syndrome
Sabet Rasekh, Parisa, MD; Children’s National Health System
- LMNB1-Related Autosomal Dominant Leukodystrophy
Sacharow, Stephanie J, MD; Boston Children's Hospital
- Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency
- Spinal Muscular Atrophy, X-Linked Infantile
Sadleir, Lynette Grant, MB ChB; University of Otago
- GNB5-Related Neurodevelopmental Disorder
Saenz-Ayala, Sofia, MD; Cincinnati Children's Hospital Medical Center
- Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
Saffari, Afshin, MD; Harvard Medical School
- EPG5-Related Disorder
Saheki, Takeyori, MD, PhD; Kagoshima University Graduate School of Medical and Dental Sciences
- Citrin Deficiency
Sahota, Amrik, PhD; Rutgers University
- Adenine Phosphoribosyltransferase Deficiency
Saito, Kayoko, MD, PhD; Tokyo Women's Medical University School of Medicine
- Fukuyama Congenital Muscular Dystrophy
Sajorda, Brian J, BA; Children's Hospital of Philadelphia
- Simpson-Golabi-Behmel Syndrome Type 1
Sako, Shuhei, MD; Jikei University School of Medicine
- Thiamine-Responsive Megaloblastic Anemia Syndrome
Saldaris, Jacinta, PhD; Telethon Kids Institute
- CDKL5 Deficiency Disorder
Salgado, Carlos, MD; Stanford University School of Medicine
- Schimke Immunoosseous Dysplasia
Salih, Mustafa A, Dr Med Sci, MBBS, MD; King Saud University
- Salih Myopathy
- SH3TC2-Related Hereditary Motor and Sensory Neuropathy
- Spinocerebellar Ataxia with Axonal Neuropathy, Autosomal Recessive
Salomons, Gajja S, PhD; Amsterdam University Medical Centers
- Creatine Deficiency Disorders
- Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation
Salpea, Paraskevi, PhD; National Institutes of Health
- Carney Complex
Salpietro, Vincenzo, MD; University College London
- GRIA2-Related Neurodevelopmental Disorder
Salter, Claire, BMedSci, MBBS; University of Exeter Medical School
- PI4KA-Related Disorder
Salviati, Leonardo, MD, PhD; University of Padova
- Primary Coenzyme Q10 Deficiency Overview
Sambuughin, Nyamkhishig, PhD; Uniformed Services University
- Malignant Hyperthermia Susceptibility
Sampaio Moura, Natalia, BS; National Human Genome Research Institute
- Adenosine Deaminase 2 Deficiency
Samson, Ricardo A, MD; Children’s Heart Center Nevada
- Jervell and Lange-Nielsen Syndrome
Sanchez Russo, Rossana, MD; Emory University School of Medicine
- 3q29 Recurrent Deletion
Sandoval, Claudio, MD; New York Medical College
- Hereditary Folate Malabsorption
Sands, Tristan T, MD, PhD; Columbia University Irving Medical Center
- GNB1 Encephalopathy
Santani, Avni B, PhD; Children’s Hospital of Philadelphia
- Carnitine Palmitoyltransferase 1A Deficiency
Santen, Gijs, MD, PhD; Leiden University Medical Center
- ARID1B-Related Disorder
- Coffin-Siris Syndrome
Santos, Fernando, MD, PhD; University of Oviedo
- Hereditary Distal Renal Tubular Acidosis
Santos, Manuela, MD; Centro Hospitalar Universitário do Porto
- LAMA2 Muscular Dystrophy
Sanz, Maureen M, PhD; Molloy College
- Bloom Syndrome
Sapp, Julie C, ScM; National Institutes of Health
- Proteus Syndrome
Sardh, Eliane, MD, PhD; Karolinska University Hospital
- Acute Intermittent Porphyria
Sarquella-Brugada, Georgia, MD, PhD; Hospital Sant Joan de Deu
- Brugada Syndrome
Sarret, Catherine, MD, PhD; Centre Hospitalier Universitaire de Clermont-Ferrand
- Allan-Herndon-Dudley Syndrome
Sas, David J, DO; Mayo Clinic
- Primary Hyperoxaluria Type 1
- Primary Hyperoxaluria Type 3
Sassa, Shigeru, MD, PhD; The Rockefeller University
- Acute Intermittent Porphyria
Sattler, Elke C, MD; Ludwig Maximilian University of Munich
- Birt-Hogg-Dube Syndrome
Saulnier, Celine A, PhD; Neurodevelopmental Assessment & Consulting Services
- 3q29 Recurrent Deletion
Saul, Robert A, MD; Greenwood Genetics Center
- FMR1 Disorders
Saunders-Pullman, Rachel, MD, MPH; Icahn School of Medicine at Mount Sinai / Mount Sinai Beth Israel
- LRRK2 Parkinson Disease
- SGCE Myoclonus-Dystonia
Saunders, Carol J, PhD; University of Missouri
- Pitt-Hopkins Syndrome
Sauvé, Yves, PhD; University of Alberta
- X-Linked Congenital Stationary Night Blindness
Savage, Sharon A, MD; National Cancer Institute, NIH
- Dyskeratosis Congenita and Related Telomere Biology Disorders
Savant, Adrienne, MD, MS; Tulane University School of Medicine
- Cystic Fibrosis
Savarese, Marco, PhD; University of Helsinki
- Salih Myopathy
Savarirayan, Ravi, MBBS, MD; University of Melbourne
- Chondrodysplasia Punctata 2, X-Linked
- Fibrodysplasia Ossificans Progressiva
- Osteopathia Striata with Cranial Sclerosis
- Pycnodysostosis
- Schmid Metaphyseal Chondrodysplasia
- Thanatophoric Dysplasia
- Type II Collagen Disorders Overview
Savoia, Anna, PhD; Institute for Maternal and Child Health - IRCCS Burlo Garofolo
- MYH9-Related Disease
Scaglia, Fernando, MD; Baylor College of Medicine
- Deoxyguanosine Kinase Deficiency
- MELAS
- Mitochondrial DNA Maintenance Defects Overview
- MPV17-Related Hepatocerebral Mitochondrial DNA Maintenance Defect
- SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria
- SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria
- TANGO2 Deficiency
- TK2-Related Mitochondrial DNA Maintenance Defect, Myopathic Form
Scarpa, Maurizio, MD, PhD; Horst Schmidt Klinik
- Mucopolysaccharidosis Type II
Schaaf, Christian P, MD, PhD; Heidelberg University
- 15q13.3 Recurrent Deletion
- NR2F1-Related Neurodevelopmental Disorder
- Schaaf-Yang Syndrome
- Xq28 Duplication Syndrome, Int22h1/Int22h2 Mediated
Schaefer, Amanda M, MS; University of Iowa Hospitals and Clinics
- Genetic Hearing Loss Overview
- Pendred Syndrome / Nonsyndromic Enlarged Vestibular Aqueduct
Schaefer, Franz, MD; Heidelberg University
- Autosomal Recessive Polycystic Kidney Disease – PKHD1
Schanen, N Carolyn, MD, PhD; Dup15q Alliance
- Maternal 15q Duplication Syndrome
Scharenberg, Andrew M, MD; University of Washington
- X-Linked Severe Combined Immunodeficiency
Scharer, Gunter, MD, PhD; Denver Genetic Laboratories, University of Colorado
- Nonketotic Hyperglycinemia
Scheffer, Ingrid E, MBBS, PhD; University of Melbourne
- Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy
- FOXP2-Related Speech and Language Disorder
- GRIN2A-Related Speech Disorders and Epilepsy
Scheper, Gert C, PhD; Vrije Universiteit Medical Center
- Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation
- Megalencephalic Leukoencephalopathy with Subcortical Cysts
Scherer, Gerd, PhD; University of Freiburg
- Campomelic Dysplasia
Scheuerle, Angela E, MD; University of Texas Southwestern Medical Center
- Incontinentia Pigmenti
Schiffmann, Raphael, MD, MHSc; Baylor Scott & White Research Institute
- Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter
- Mucolipidosis IV
Schilsky, Michael, MD; Yale University School of Medicine
- Wilson Disease
Schimke, R Neil, MD; University of Kansas Medical Center
- Von Hippel-Lindau Syndrome
Schimmenti, Lisa A, MD; Mayo Clinic
- Myhre Syndrome
- NDP-Related Retinopathies
- PAX2-Related Disorder
Schindler, Alice, MS; National Institute of Neurological Disorders and Stroke
- Autosomal Dominant TRPV4 Disorders
Schinkel, Alfred, PhD; Netherlands Cancer Institute
- Rotor Syndrome
Schirwani, Schaida, MB ChB, MSc; Sheffield Children's NHS Foundation Trust
- ASXL3-Related Disorder
Schlade-Bartusiak, Kamilla, PhD; University of Alberta
- Alpha-1 Antitrypsin Deficiency
Schlechter, Catherine, MS; Casey Eye Institute - Oregon Health Sciences University
- Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview
Schlis, Krysta, MD; Children's Hospital & Research Center Oakland
- Sickle Cell Disease
Schlotawa, Lars, MD; University Medical Center Göttingen
- Multiple Sulfatase Deficiency
Schmale, Gregory A, MD; University of Washington
- Hereditary Multiple Osteochondromas
Schmitz, Matthias, MD; University Medical School
- Genetic Prion Disease
Schneider, Katherine A, MPH; Dana Farber Cancer Institute
- Li-Fraumeni Syndrome
Schneider, Susanne A, MD, PhD; Ludwig Maximilian University
- PINK1 Type of Young-Onset Parkinson Disease
Schneppenheim, Reinhard, MD, PhD; University Medical Center Hamburg – Eppendorf
- Rhabdoid Tumor Predisposition Syndrome
Schon, Katherine Rose, MA, MB ChB; Addenbrooke's Hospital
- Congenital Insensitivity to Pain Overview
Schoser, Benedikt, MD; Ludwig-Maximilians University
- Myotonic Dystrophy Type 2
Schreiber, John M, MD; Children's National Hospital
- SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders
Schreuder, Andrea B, MD, PhD; University Medical Center Groningen
- Glycogen Storage Disease Type III
Schrier Vergano, Samantha A, MD; Children’s Hospital of the King’s Daughters
- ARID1B-Related Disorder
- Coffin-Siris Syndrome
- IMAGe Syndrome
Schroer, Richard, MD; Greenwood Genetic Center
- Epimerase Deficiency Galactosemia
Schuchman, Edward H, PhD; Icahn School of Medicine at Mount Sinai
- Acid Sphingomyelinase Deficiency
Schuelke, Markus, MD; Charité - Universitätsmedizin Berlin
- Ataxia with Vitamin E Deficiency
Schultz, Kris Ann P, MD; Children’s Minnesota
- DICER1 Tumor Predisposition
- FH Tumor Predisposition Syndrome
Schulz, Ansgar, MD; Universitätsklinik für Kinder- und Jugendmedizin
- CLCN7-Related Osteopetrosis
Schulze, Jeanine, MS; Indiana University School of Medicine
- Parkinson Disease Overview
Schutte, Brian C, PhD; Michigan State University
- IRF6-Related Disorders
Schwartz, Charles E, MS, PhD; Greenwood Genetic Center
- RPS6KA3-Related Intellectual Disability
- Snyder-Robinson Syndrome
Schwartz, David A, MD; University of Colorado Denver
- Pulmonary Fibrosis Predisposition Overview
Schwartz, Mary E; PC Project
- Pachyonychia Congenita
Schwartz, Stuart, PhD; Laboratory Corporation of America
- Prader-Willi Syndrome
Schwarz, Guenter; Cologne University
- Molybdenum Cofactor Deficiency
Scott, C Ronald, MD; University of Washington
- Tyrosinemia Type I
Scott, Daryl A, MD, PhD; University of Utah
- GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss
- Pendred Syndrome / Nonsyndromic Enlarged Vestibular Aqueduct
- RERE-Related Disorders
Scriver, Charles R, MD; McGill University
- Phenylalanine Hydroxylase Deficiency
Scruggs, Brittni A, MD, PhD; Mayo Clinic
- NDP-Related Retinopathies
Seabra, Miguel C, MD, PhD; Imperial College School of Medicine
- Choroideremia
Sebastio, Gianfranco, MD; Federico II University of Naples
- Lysinuric Protein Intolerance
Seckington, Rebecca; University of Queensland School of Medicine
- HFE-Related Hemochromatosis
Sedel, Frederic, MD, PhD; MedDay Pharmaceuticals
- CLCN2-Related Leukoencephalopathy
Sekijima, Yoshiki, MD, PhD; Shinshu University School of Medicine
- Hereditary Transthyretin Amyloidosis
Selber, Paulo, MD; Royal Children’s Hospital Melbourne
- PURA-Related Neurodevelopmental Disorders
Seminara, Stephanie, MD; Massachusetts General Hospital
- Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency
Senaratne, T Niroshini, PhD; University of California, Los Angeles
- NFIA-Related Disorder
Sentner, Christiaan P, MD; University Medical Center Groningen
- Glycogen Storage Disease Type III
Sequerra Amram Cohen, Ana, PhD; Icahn School of Medicine at Mount Sinai
- EED-Related Overgrowth
Sereda, Christina, MSc; National Institutes of Health
- Choroideremia
Seront, Emmanuel, MD, PhD; Cliniques universitaires Saint-Luc
- TEK-Related Venous Malformations
Sethi, Sanjeev, MD, PhD; Mayo Clinic
- C3 Glomerulopathy
Shah, Hitesh, MS; Manipal Academy of Higher Education
- Multicentric Osteolysis Nodulosis and Arthropathy
- Progressive Pseudorheumatoid Dysplasia
Shakkottai, Vikram, MD, PhD; University of Michigan Medical School
- Spinocerebellar Ataxia Type 3
Shapiro, Amy D, MD; Indiana Hemophilia & Thrombosis Center
- Complete Plasminogen Activator Inhibitor 1 Deficiency
Sharer, J Daniel, PhD; University of Alabama at Birmingham
- Duarte Variant Galactosemia
Sharpe, Lindsay T, MA, PhD; Institute of Ophthalmology
- Achromatopsia
Shashi, Vandana, MD; Duke University
- NGLY1-Related Congenital Disorder of Deglycosylation
Shaw, Adam, BMed, MD; Guy’s & Saint Thomas’ Hospitals
- Trichorhinophalangeal Syndrome
Shaw, Chris, BS; University of Washington
- ADCY5 Dyskinesia
Shchelochkov, Oleg A, MD; National Institutes of Health
- Propionic Acidemia
Shearer, A Eliot, MD, PhD; Harvard Medical School
- Genetic Hearing Loss Overview
- OTOF-Related Deafness
- STRC-Related Autosomal Recessive Hearing Loss
Sheen, Volney L, MD, PhD; Harvard Medical School
- FLNA Deficiency
Sheffield, Val C, MD, PhD; University of Iowa College of Medicine
- GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss
- Pendred Syndrome / Nonsyndromic Enlarged Vestibular Aqueduct
Shelton, Celeste, MS, PhD; Ariel Precision Medicine
- Pancreatitis Overview
- PRSS1-Related Hereditary Pancreatitis
Shen, Yiping, PhD; Boston Children's Hospital
- 16p11.2 Recurrent Deletion
Shephard, Elizabeth A, MSc, PhD; University College London
- Primary Trimethylaminuria
Sheppard, Sarah E, MD, PhD; Eunice Kennedy Shriver National Institute of Child Health and Human Development
- Wiedemann-Steiner Syndrome
Sheridan, Eamonn, MD; University of Leeds
- RAB18 Deficiency
Sherr, Elliott H, MD, PhD; University of California, San Francisco
- DDX3X-Related Neurodevelopmental Disorder
- RERE-Related Disorders
Shieh, Joseph TC, MD, PhD; University of California San Francisco
- Hyaline Fibromatosis Syndrome
Shih, Vivian E, MD; Massachusetts General Hospital
- Fumarate Hydratase Deficiency
Shiloh-Malawsky, Yael, MD; University of North Carolina at Chapel Hill
- DRPLA
Shimamura, Akiko, MD, PhD; Dana Farber Cancer Institute
- Fanconi Anemia
Shirvan, Leila, BA; National Human Genome Research Institute
- HEXA Disorders
Shneider, Benjamin L, MD; University of Pittsburgh Medical Center
- ATP8B1 Deficiency
Shoffner, John M, MD; Medical Neurogenetics, LLC
- Mitochondrial Neurogastrointestinal Encephalopathy Disease
Shohat, Mordechai, MD; Maccabi Genetic Institute
- Familial Dysautonomia
- Familial Mediterranean Fever
Sholto-Douglas-Vernon, Carolyn, PhD; St George's University of London
- Milroy Disease
Shooner, Kerry, MS; Cincinnati Children's Hospital Medical Center
- Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
Shukla, Anju, MD; Manipal Academy of Higher Education
- ISCA1-Related Multiple Mitochondrial Dysfunctions Syndrome
- Multicentric Osteolysis Nodulosis and Arthropathy
- Progressive Pseudorheumatoid Dysplasia
Shultz, Sarah, PhD; Emory University School of Medicine
- 3q29 Recurrent Deletion
Shuman, Cheryl, MS; University of Toronto
- Beckwith-Wiedemann Syndrome
Siddique, Nailah, MSN, RN; Northwestern University Feinberg School of Medicine
- Amyotrophic Lateral Sclerosis Overview
Siddique, Teepu, DSc (Hon), MD; Northwestern University Feinberg Medical School
- Amyotrophic Lateral Sclerosis Overview
Siebert, Reiner, MD; Ulm University & Ulm University Medical Center
- Rhabdoid Tumor Predisposition Syndrome
Sieff, Colin, MBBCh; Boston Children's Hospital and Dana Farber Cancer Institute
- Diamond-Blackfan Anemia
Sieni, Elena, MD; Meyer Children’s University Hospital
- Familial Hemophagocytic Lymphohistiocytosis
Sieving, Paul A, MD, PhD; University of California, Davis
- X-Linked Congenital Retinoschisis
Silber, Sherman J, MD; Saint Luke's Hospital
- Y Chromosome Infertility
Simons, Cas, PhD; University of Queensland
- TUBB4A-Related Leukodystrophy
Simpson, Kara L, MS; Children's National Hospital
- Ornithine Transcarbamylase Deficiency
- Urea Cycle Disorders Overview
Sims, Katherine B, MD; Massachusetts General Hospital / Harvard Medical School
- NDP-Related Retinopathies
Singal, Ashwani K, MD, MSc; University of South Dakota Sanford School of Medicine
- Variegate Porphyria
Singer, Kaitlyn, MS; Geisinger Health System
- 16p11.2 Recurrent Deletion
Singh, Gautam K, MD; Central Michigan University School of Medicine
- Cantú syndrome
Singh, Rani H, PhD, RD; Emory University School of Medicine
- Duarte Variant Galactosemia
Singh, Swati, MSc; Manipal Academy of Higher Education
- EXOC6B-Related Spondyloepimetaphyseal Dysplasia with Joint Laxity
Sinnreich, Michael, MD, PhD; Montreal Neurological Institute
- GNE Myopathy
Siper, Paige, PhD; Icahn School of Medicine at Mount Sinai
- FOXP1 Syndrome
Sisodiya, Sanjay, MD, PhD; University College London
- TBC1D24-Related Disorders
Sivakumar, Kumaraswamy, MD; St Joseph's Hospital and Medical Center
- GARS-Associated Axonal Neuropathy
Skefos, Catherine M, MA, MS; The University of Texas MD Anderson Cancer Center
- CDC73-Related Disorders
Skinner, Jonathan Robert, MB ChB, MD; University of Auckland
- GNB5-Related Neurodevelopmental Disorder
Skraban, Cara M, MD; Children's Hospital of Philadelphia
- WDR26-Related Intellectual Disability
Slattery, Susan M, MD, MS; Northwestern University
- Congenital Central Hypoventilation Syndrome
Slaugenhaupt, Susan A, PhD; MGH Center for Human Genetic Research / Harvard Medical School
- Mucolipidosis IV
Slavotinek, Anne M, MBBS, PhD; University of California, San Francisco
- FREM1 Autosomal Recessive Disorders
- Fryns Syndrome
- McKusick-Kaufman Syndrome
Sleasman, John W, MD; Duke University Medical Center
- IPEX Syndrome
Sloan, Jennifer L, MS, PhD; National Human Genome Research Institute
- Disorders of Intracellular Cobalamin Metabolism
- Isolated Methylmalonic Acidemia
Sloman, Melissa, BSc; Royal Devon University Healthcare NHS Foundation Trust
- Spondylocostal Dysostosis, Autosomal Recessive
Smaoui, Nizar, MD; GeneDx, Inc
- Choroideremia
- X-Linked Congenital Retinoschisis
Smith-Simmer, Kelcy, MMSc; University of Wisconsin Carbone Cancer Center
- DDX41-Associated Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia
Smith, Adam C, MS; University of Toronto
- Beckwith-Wiedemann Syndrome
Smith, Ann CM, DSc (Hon), MA; National Institutes of Health
- Smith-Magenis Syndrome
Smith, CI Edvard, MD, PhD; Karolinska Institutet
- X-Linked Agammaglobulinemia
Smith, Edward R, MD; Boston Children's Hospital
- Familial Cerebral Cavernous Malformation
Smith, Frances JD, PhD; University of Dundee
- Pachyonychia Congenita
Smith, Janine, MD; National Institutes of Health
- Mucolipidosis IV
Smith, Rebecca, MS; Geisinger Health System
- 16p11.2 Recurrent Deletion
Smith, Richard JH, MD; University of Iowa Hospitals and Clinics
- Branchiootorenal Spectrum Disorder
- C3 Glomerulopathy
- DFNA2 Nonsyndromic Hearing Loss
- Genetic Hearing Loss Overview
- GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss
- OTOF-Related Deafness
- Pendred Syndrome / Nonsyndromic Enlarged Vestibular Aqueduct
Smith, Simone, MSc; Geisinger Health System
- PACS1 Neurodevelopmental Disorder
Smith, Stephanie C, MS; University of Mississippi Medical Center
- Spinocerebellar Ataxia Type 3
Sniderman King, Lisa, MSc; Genzyme Corporation
- Tyrosinemia Type I
Snijders Blok, Lot, MD; Radboud University Medcal Center
- DDX3X-Related Neurodevelopmental Disorder
Snow-Bailey, Karen, PhD; Auckland City Hospital
- Multiple Endocrine Neoplasia Type 2
Snyder, Cara L, MS; CLS Genetic Consulting, LLC
- Celiac Disease
Soares, Ana Rita, MD; Santo Antonio University Hospital Center
- Ellis-van Creveld Syndrome
Sobacchi, Cristina, MS; Humanitas Clinical and Research Center
- CLCN7-Related Osteopetrosis
Sobeih, Magdi M, MD, PhD; Boston Children's Hospital
- 16p11.2 Recurrent Deletion
Sobrido, Maria J, MD, PhD; Fundación Pública Galega de Medicina Xenómica-SERGAS
- Primary Familial Brain Calcification
- Spinocerebellar Ataxia Type 36
So, Jodi Y, BA; Stanford School of Medicine
- Epidermolysis Bullosa Simplex
Soldovieri, Maria Virginia, PhD; University of Molise
- KCNQ2-Related Disorders
- KCNQ3-Related Disorders
Soler-Alfonso, Claudia, MD; Baylor College of Medicine
- TANGO2 Deficiency
Solomon, Benjamin D, MD; National Institutes of Health
- Holoprosencephaly Overview
Solomon, Beth, MS; National Institutes of Health
- Smith-Magenis Syndrome
Solomon, Cindy, MS; Myriad Genetic Laboratories, Inc
- APC-Associated Polyposis Conditions
Solomon, Sheila, MS; GeneDx, Inc
- Pancreatitis Overview
- PRSS1-Related Hereditary Pancreatitis
Song, Yuan-Zong, MD, PhD; Jinan University
- Citrin Deficiency
Sotero de Menezes, Marcio A, MD; Swedish Neuroscience Institute
- SCN1A-Related Seizure Disorders
Spacey, Sian, MD; University of British Columbia
- Familial Paroxysmal Nonkinesigenic Dyskinesia
Sparks, Susan E, MD, PhD; Sanofi Genzyme
- Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview
- LAMA2 Muscular Dystrophy
- PMM2-CDG
Spence, Sarah J, MD, PhD; Children’s Hospital Boston
- Maternal 15q Duplication Syndrome
Sperandeo, Maria Pia, PhD; Federico II University
- Lysinuric Protein Intolerance
Spiegel, Ronen, MD; Emek Medical Center
- Mucolipidosis III Gamma
Spinner, Nancy B, PhD; Children's Hospital of Philadelphia
- Alagille Syndrome
Splawski, Igor, PhD; Assistant, Children's Hospital Boston
- CACNA1C-Related Disorders
Sprecher, Eli, MD, PhD; Tel Aviv Medical Center
- Pachyonychia Congenita
Squires, James E, MD, MS; UPMC Children’s Hospital of Pittsburgh
- ATP8B1 Deficiency
- Pediatric Genetic Cholestatic Liver Disease Overview
Sreedharan, Jemeen, BSc, MBBS, PhD; King's College London
- TARDBP-Related Amyotrophic Lateral Sclerosis-Frontotemporal Dementia
Srivastava, Siddharth, MD; Boston Children's Hospital
- Alexander Disease
- SETBP1 Haploinsufficiency Disorder
Stanich, Peter P, MD; The Ohio State University Wexner Medical Center
- APC-Associated Polyposis Conditions
Stanley, Charles A, MD; University of Pennsylvania
- Permanent Neonatal Diabetes Mellitus
Starr, Lois J, MD, PhD; University of Nebraska Medical Center
- Myhre Syndrome
- SLC25A24 Fontaine Progeroid Syndrome
Statland, Jeffrey M, MD; University of Kansas Medical Center
- Andersen-Tawil Syndrome
Steeds, Rick, MD; University Hospitals
- Alstrom Syndrome
Steeves, Marcie, MS; MassGeneral Hospital for Children
- Pitt-Hopkins Syndrome
Steinberg, Steven J, PhD; ARUP Laboratories
- Rhizomelic Chondrodysplasia Punctata Type 1
- X-Linked Adrenoleukodystrophy
- Zellweger Spectrum Disorder
Steiner, Robert D, MD; University of Wisconsin School of Medicine and Public Health
- COL1A1/2 Osteogenesis Imperfecta
- Sitosterolemia
Stein, Jennifer L, MS; Cleveland Clinic Genomic Medicine Institute
- PTEN Hamartoma Tumor Syndrome
Steinlein, Ortrud K, MD, PhD; Ludwig Maximilian University of Munich
- Birt-Hogg-Dube Syndrome
Steinman, Kyle J, MD; Seattle Children's Hospital
- 16p11.2 Recurrent Deletion
Steinmann, Beat, MD; University Children's Hospital
- PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome
Stephens, Karen, PhD; University of Washington Medical Center
- Epidermolysis Bullosa Simplex
Stephenson, John BP; Royal Hospital for Sick Children
- Aicardi-Goutieres Syndrome
Sternberg, Damien, MD, PhD; Assistance Publique - Hôpitaux de Paris
- Hypokalemic Periodic Paralysis
Sternen, Darci L, MS; Children's Hospital and Regional Medical Center
- Cystic Fibrosis
Stevanin, Giovanni, PhD; Hôpital de la Pitié-Salpêtrière
- Spastic Paraplegia 11
Stevens, Cathy A, MD; University of Tennessee College of Medicine
- Rubinstein-Taybi Syndrome
Stevenson, David A, MD; Stanford University
- Capillary Malformation-Arteriovenous Malformation Syndrome
- Hereditary Hemorrhagic Telangiectasia
- Legius Syndrome
Stevenson, Roger E, MD; Greenwood Genetic Center
- Alpha-Thalassemia X-Linked Intellectual Disability Syndrome
- Snyder-Robinson Syndrome
Stewart, Blythe; University of Edinburgh
- MYRF-Related Cardiac Urogenital Syndrome
Stewart, Douglas R, MD; National Cancer Institute
- DICER1 Tumor Predisposition
Stojinski, Carol, MD, MS; Drexel University College of Medicine
- Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency
Stojkovic, Tanya, MD; Institut de Myologie
- Oculopharyngeal Muscular Dystrophy
Stokman, Marijn, MD, PhD; Radboud University Medical Centre
- Nephronophthisis-Related Ciliopathies
Stolle, Catherine A, PhD; Children's Hospital of Philadelphia
- Von Hippel-Lindau Syndrome
Stoller, James K, MD, MS; Cleveland Clinic
- Alpha-1 Antitrypsin Deficiency
Stone, Jeremy T, BSc; Mayo Clinic
- LRRK2 Parkinson Disease
Storey, Elsdon, DPhil; Monash University
- Spinocerebellar Ataxia Type 20
Stover, Niamh B, MS; Banner Health
- Bietti Crystalline Dystrophy
Stratakis, Constantine A, DSc, MD; Foundation for Research & Technology Hellas
- Carney Complex
Stratton, Pamela, MD; National Institute of Neurological Disorders and Stroke
- DICER1 Tumor Predisposition
Strauss, Arnold W, MD; Cincinnati Children's Hospital Medical Center
- Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
Strauss, Kevin A, MD; Clinic for Special Children
- Maple Syrup Urine Disease
Strober, Jonathan, MD; UCSF / Benioff Children’s Hospital
- Sphingosine Phosphate Lyase Insufficiency Syndrome
Stuart, Helen M, MD; University of Manchester and Central Manchester University Hospitals NHS Foundation Trust
- Urofacial Syndrome
Stumpel, Connie, MD, PhD; Academic Hospital Maastricht
- L1 Syndrome
Stutterd, Chloe, MBBS; University of Melbourne
- Polymicrogyria Overview
Stöckler-Ipsiroglu, Sylvia, MBA, MD, PhD; British Columbia Children's Hospital
- Creatine Deficiency Disorders
Subramony, SH, MD; University of Florida
- Spinocerebellar Ataxia Type 1
- Spinocerebellar Ataxia Type 3
- Spinocerebellar Ataxia Type 8
Suchy, Sharon F, PhD; GeneDx, Inc
- Chondrodysplasia Punctata 1, X-Linked
Suit, Lindsey; University of California, San Francisco
- DDX3X-Related Neurodevelopmental Disorder
Sullivan, Bonnie, MD; Children’s Mercy Kansas City
- Sphingosine Phosphate Lyase Insufficiency Syndrome
Sumegi, Janos, MD, PhD; Cincinnati Children's Hospital Medical Center
- Lymphoproliferative Disease, X-Linked
Summar, Marshall L, MD; Children's National Health System
- Urea Cycle Disorders Overview
Sumner, Charlotte J, MD; Johns Hopkins University School of Medicine
- Autosomal Dominant TRPV4 Disorders
Sun, Angela, MD; Seattle Children's Hospital
- Arginase Deficiency
- Mucopolysaccharidosis Type VII
Sundal, Christina, MD, PhD; Gothenburg University
- CSF1R-Related Disorder
Suominen, Tiina, MSc; University of Tampere
- Salih Myopathy
- Udd Distal Myopathy - Tibial Muscular Dystrophy
Superti-Furga, Andrea, MD; University of Lausanne
- Achondrogenesis Type 1B
- Atelosteogenesis Type 2
- Campomelic Dysplasia
- CHST3-Related Skeletal Dysplasia
- Diastrophic Dysplasia
- SLC26A2-Related Multiple Epiphyseal Dysplasia
Sutton, V Reid, MD; Baylor College of Medicine
- Aicardi Syndrome
- PORCN-Related Developmental Disorders
- TP63-Related Disorders
- White-Sutton Syndrome
Suwannarat, Pim, MD; Faculty of Medicine, Ramathibodi Hospital
- Alkaptonuria
Suzuki, Tamio, MD, PhD; Yamagata University
- Oculocutaneous Albinism Type 4
Sveden, Abigail, MS; Boston Children's Hospital
- ANKRD17-Related Neurodevelopmental Syndrome
Swanson, Michael, PhD; University of Colorado School of Medicine
- Nonketotic Hyperglycinemia
Sweadner, Kathleen J, PhD; Massachusetts General Hospital
- ATP1A3-Related Neurologic Disorders
Sweeney, Elizabeth, MB ChB, MD; Liverpool Women's Hospital
- Nail-Patella Syndrome
Sweeney, William E, MS; Medical College and Children’s Health System of Wisconsin
- Autosomal Recessive Polycystic Kidney Disease – PKHD1
Sweetser, David A, MD, PhD; Massachusetts General Hospital
- GNAO1-Related Disorder
- Pitt-Hopkins Syndrome
Swoboda, Kathryn J, MD; Massachusetts General Hospital
- ATP1A3-Related Neurologic Disorders
- Tyrosine Hydroxylase Deficiency
Sybert, Virginia P, MD; University of Washington
- Epidermolysis Bullosa Simplex
Symoens, Sofie, PhD; Ghent University Hospital
- Classic Ehlers-Danlos Syndrome
Synofzik, Matthis, MD; Center for Neurology & Hertie Institute for Clinical Brain Research
- ARSACS
- GAA-FGF14-Related Ataxia
- PNPLA6 Disorders
Syx, Delfien, PhD; Ghent University Hospital
- Classic Ehlers-Danlos Syndrome

Tabarki, Brahim, MD; Prince Sultan Military Medical City
- Biotin-Thiamine-Responsive Basal Ganglia Disease
- SLC25A19-Related Thiamine Metabolism Dysfunction
Tabti, Nacira, MD, PhD; Assistance Publique - Hôpitaux de Paris
- Hypokalemic Periodic Paralysis
Taglialatela, Maurizio, MD, PhD; University of Naples Federico II
- KCNQ2-Related Disorders
- KCNQ3-Related Disorders
Tait, Jonathan F, MD, PhD; University of Washington School of Medicine
- Cystic Fibrosis
- HFE-Related Hemochromatosis
Takahashi, Hitoshi, MD, PhD; Niigata University
- Spinocerebellar Ataxia Type 17
Takahashi, Toshiaki, MD, PhD; National Hospital Organization – Sendai-Nishitaga Hospital
- Dysferlinopathy
Takasaki, Kaoru, MD; Children's Hospital of Philadelphia
- GATA1-Related Cytopenia
Takashima, Hiroshi, MD, PhD; Kagoshima University Graduate School of Medical and Dental Sciences
- Spinocerebellar Ataxia with Axonal Neuropathy, Autosomal Recessive
Talbert, Janet L, MS; Vanderbilt University Medical Center
- Pulmonary Fibrosis Predisposition Overview
Tallaksen, Chantal; Hôpital de la Pitié-Salpêtrière
- Spastic Paraplegia 4
Taly, Arun B, MD; National Institute of Mental Health & Neurosciences
- Huppke-Brendel Syndrome
- Isolated Sulfite Oxidase Deficiency
Tamary, Hannah, MD; Schneider Children's Medical Center of Israel
- Alpha-Thalassemia
- Congenital Dyserythropoietic Anemia Type I
Tamburro, Joan, DO; Cleveland Clinic
- Isolated and Classic Cutis Marmorata Telangiectatica Congenita
Tamura, Deborah, RN; National Cancer Institute
- Xeroderma Pigmentosum
Tanase-Nakao, Kanako, MD, PhD; National Research Institute for Child Health and Development
- MIRAGE Syndrome
Tan, Christopher, MS; University of Chicago
- Chondrodysplasia Punctata 2, X-Linked
Taniguchi, Toshiyasu, MD, PhD; Fred Hutchinson Cancer Research Center
- Fanconi Anemia
Tanpaiboon, Pranoot, MD; Children's National Medical Center
- Mucopolysaccharidosis Type IVA
Tan, Queenie K-G, MD, PhD; Mayo Clinic
- IPEX Syndrome
Tan, Weizhen, MD; MassGeneral Hospital for Children
- Cranioectodermal Dysplasia
Tan, Wen-Hann, MBBS; Boston Children’s Hospital
- Bohring-Opitz Syndrome
Tarleton, Jack C, PhD; Fullerton Genetics Center
- FMR1 Disorders
Tarrant, Teresa, MD; Duke University Medical Center
- Adenosine Deaminase Deficiency
Tartaglia, Marco, PhD; Bambino Gesú Children’s Hospital IRCSS
- Noonan Syndrome with Multiple Lentigines
Tatton-Brown, Katrina, BM BCh, MD; St George's University of London
- EZH2-Related Overgrowth
- HIST1H1E Syndrome
- Sotos Syndrome
- Tatton-Brown-Rahman Syndrome
Tawana, Kiran, MB ChB, PhD; Queen Mary University of London
- CEBPA-Associated Familial Acute Myeloid Leukemia (AML)
Tawil, Rabi, MD; University of Rochester Medical Center
- Andersen-Tawil Syndrome
- Facioscapulohumeral Muscular Dystrophy
Taylor, Annette K, MS, PhD; Laboratory Corporation of America Holdings
- Celiac Disease
Taylor, Cora M, PhD; Geisinger Health System
- 16p11.2 Recurrent Deletion
- CHD8-Related Neurodevelopmental Disorder with Overgrowth
- PACS1 Neurodevelopmental Disorder
Taylor, Kelly A, MS; Vanderbilt Medical Center
- ATP8B1 Deficiency
Taylor, Matthew RG, MD, PhD; University of Colorado Anschutz Medical Campus
- Danon Disease
Taylor, Robert W, PhD; Newcastle University
- RRM2B Mitochondrial DNA Maintenance Defects
Taylor, Rohan, BSc (Hons); St George's Healthcare NHS Trust
- ROR2-Related Robinow Syndrome
Tchan, Michel, BMedSci, MBBS, PhD; Westmead Hospital
- Aspartylglucosaminuria
Teebi, Ahmad, MD; Education City
- Cherubism
Tekendo-Ngongang, Cedrik, MD; National Human Genome Research Institute
- Holoprosencephaly Overview
Tekin, Mustafa, MD; John P Hussman Institute for Human Genomics
- Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia
- Deafness and Myopia Syndrome
- KBG Syndrome
Temple, Isabel Karen, MD; Southampton University Hospitals NHS Trust
- Diabetes Mellitus, 6q24-Related Transient Neonatal
Teng, Joyce, MD, PhD; Stanford School of Medicine
- Epidermolysis Bullosa Simplex
Terry, Sharon F, MA; PXE International
- Pseudoxanthoma Elasticum
Terwindt, Gisela M, MD, PhD; Leiden University Medical Center
- CADASIL
- Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations
Testa, Giuseppe, MA, MD, PhD; European Institute of Oncology
- Gabriele-de Vries Syndrome
Thabet, Farah, MD; Fattouma Bourguiba University Hospital
- SLC25A19-Related Thiamine Metabolism Dysfunction
Thauvin-Robinet, Christel, MD, PhD; University of Burgundy
- Oral-Facial-Digital Syndrome Type I
Thibert, Ronald L, DO, MSPH; Massachusetts General Hospital
- Maternal 15q Duplication Syndrome
- Pitt-Hopkins Syndrome
Thiel, Christian T; Friedrich-Alexander Universität Erlangen-Nürnberg
- Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders
Thiel, Moritz, MD; University of Cologne
- GNAO1-Related Disorder
Thoene, Jess G, MD; University of Michigan
- Citrullinemia Type I
- Dihydrolipoamide Dehydrogenase Deficiency
Thomas, Julian, MD; Children's Hospital Orange County
- DDX3X-Related Neurodevelopmental Disorder
Thomas, Mervyn G, MBChB, PhD; University of Leicester
- FRMD7-Related Infantile Nystagmus
- Oculocutaneous Albinism and Ocular Albinism Overview
Thomas, Rhys, PhD; Newcastle University
- Hereditary Hyperekplexia Overview
Thomas, Shery; University of Leicester
- FRMD7-Related Infantile Nystagmus
Thompson, Arthur R, MD, PhD; University of Washington
- Hemophilia A
- Hemophilia B
Thompson, Reid, MD; Johns Hopkins University
- Barth Syndrome
Thorburn, David R, PhD; Royal Children's Hospital and University of Melbourne
- Mitochondrial DNA-Associated Leigh Syndrome and NARP
- Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview
Thorpe, Ryan K, MD; University of Iowa
- OTOF-Related Deafness
Thunell, Stig, MD, PhD; Karolinska Institute
- Acute Intermittent Porphyria
Tifft, Cynthia J, MD, PhD; National Human Genome Research Institute
- GLB1-Related Disorders
- GM2 Activator Deficiency
- HEXA Disorders
- Sandhoff Disease
Tijssen, Marina AJ, MD; University Medical Center Groningen
- Hereditary Hyperekplexia Overview
Tiller, George E, MD, PhD; Kaiser Permanente
- Hypochondroplasia
- X-Linked Spondyloepiphyseal Dysplasia Tarda
Timmerman, Vincent, PhD; Institute Born Bunge
- GAN-Related Neurodegeneration
Timothy, Katherine W, BS; Harvard Medical School
- CACNA1C-Related Disorders
Tinkle, Brad T, MD, PhD; Advocate Children’s Hospital
- Pompe Disease
- Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
Tiranti, Valeria Sonia, PhD; IRCCS Foundation Carlo Besta Neurological Institute
- Ethylmalonic Encephalopathy
Tkachenko, Nataliya, MD; Santo Antonio University Hospital Center
- Ellis-van Creveld Syndrome
Todd, Peter K, MD, PhD; University of Michigan School of Medicine
- FMR1 Disorders
Tokuda, Takahiko, MD, PhD; Kyoto Prefectural University Hospital
- Hereditary Transthyretin Amyloidosis
Tolar, Jakub, MD, PhD; University of Minnesota
- Fanconi Anemia
Tonduti, Davide, MD, PhD; V Buzzi Children's Hospital
- Allan-Herndon-Dudley Syndrome
Toone, Jennifer, BSc; Children's and Women's Health Centre of British Columbia
- Nonketotic Hyperglycinemia
Torgerson, Troy, MD, PhD; Division of Infectious Diseases, Immunology, and Rheumatology
- IPEX Syndrome
Toriello, Helga V, PhD; Michigan State University
- Oral-Facial-Digital Syndrome Type I
- Thrombocytopenia Absent Radius Syndrome
Toro, Camilo, MD; National Human Genome Research Institute
- Chediak-Higashi Syndrome
- GM2 Activator Deficiency
- HEXA Disorders
- Sandhoff Disease
- SCARB2-Related Action Myoclonus – Renal Failure Syndrome
Toro, Jorge R, MD; National Institutes of Health
- Birt-Hogg-Dube Syndrome
- FH Tumor Predisposition Syndrome
Torres, Vicente E, MD, PhD; Mayo Clinic
- Polycystic Kidney Disease, Autosomal Dominant
Toyoshima, Yasuko, MD, PhD; Agano Hospital
- Spinocerebellar Ataxia Type 17
Traboulsi, Elias I, MD, MEd; Cleveland Clinic Lerner College of Medicine
- Cohen Syndrome
- Isolated and Classic Cutis Marmorata Telangiectatica Congenita
Trahms, Cristine, MS, RD; University of Washington
- Tyrosinemia Type I
Tran-Fadulu, Van, MS; University of Texas Medical School at Houston
- Heritable Thoracic Aortic Disease Overview
Tranebjærg, Lisbeth, MD, PhD; University of Copenhagen
- Deafness-Dystonia-Optic Neuronopathy Syndrome
- Jervell and Lange-Nielsen Syndrome
- WFS1 Spectrum Disorder
Trevisson, Eva, MD, PhD; University of Padova
- Primary Coenzyme Q10 Deficiency Overview
Trifiro, Mark A, MD; McGill University
- Androgen Insensitivity Syndrome
Trinh, Joanne, BSc; University of British Columbia
- LRRK2 Parkinson Disease
Trollet, Capucine, PhD; Centre de Recherche en Myologie
- Oculopharyngeal Muscular Dystrophy
Trouillard, Oriane, BS; Institut du Cerveau et de la Moelle épinière
- Congenital Mirror Movements
Trzupek, Karmen M, MS; InformedDNA
- Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview
- Usher Syndrome Type I
- Usher Syndrome Type II
Tsang, Mandy HY, MMSc; University of Hong Kong
- CTNNB1 Neurodevelopmental Disorder
Tsilou, Ekaterini, MD; Center for Biologics Evaluation and Research, US FDA
- Weill-Marchesani Syndrome
Tsuji, Shoji, MD, PhD; University of Tokyo Graduate School of Medicine
- DRPLA
- Spinocerebellar Ataxia Type 17
Tsunogai, Toshiki, MD; Jikei University School of Medicine
- Thiamine-Responsive Megaloblastic Anemia Syndrome
Tuchman, Mendel, MD; Children's National Medical Center
- Urea Cycle Disorders Overview
Turner, Joyce T, MS; Children’s National Hospital
- Wilms Tumor Predisposition
Turner, Stefanie, MS; 17q12 Foundation
- 17q12 Recurrent Deletion Syndrome
Turnpenny, Peter D, BSc, ChB, MB; Royal Devon University Healthcare NHS Foundation Trust
- Spondylocostal Dysostosis, Autosomal Recessive
Tuschl, Karin, MD, PhD; UCL Great Ormond Street Institute of Child Health
- Hypermanganesemia with Dystonia 1
- SLC39A14 Deficiency
Tuupanen, Sari, PhD; Blueprint Genetics
- X-Linked Congenital Stationary Night Blindness
Tümer, Zeynep, DMSc, MD, PhD; Rigshospitalet
- DLG4-Related Synaptopathy
Tüysüz, Beyhan, MD, PhD; Istanbul University
- Trichorhinophalangeal Syndrome

Udd, Bjarne, MD, PhD; Tampere University Hospital
Uhlig, Holm; NIHR Oxford Biomedical Research Centre
- PI4KA-Related Disorder
Uitto, Jouni, MD, PhD; Thomas Jefferson University
Umair, Muhammad, PhD; King Saud Bin Abdulaziz University for Health Sciences
- EMC10-Related Neurodevelopmental Disorder
Unger, Sheila, MD; University of Lausanne
Upadia, Jariya, MD; Tulane University School of Medicine
- Cystic Fibrosis
Urban, Zsolt, PhD; University of Pittsburgh
Urion, David K, MD; Boston Children's Hospital / Harvard Medical School
- Dystrophinopathies
Ursini, Matilde Valeria, PhD; Institute of Genetics and Biophysics - CNR
- Incontinentia Pigmenti
Usami, Shin-ichi, MD, PhD; Shinshu University School of Medicine
- Nonsyndromic Hearing Loss and Deafness, Mitochondrial
Uyanik, Gökhan, MD; Hanusch Hospital
- CASK Disorders
- DCX-Related Disorders

Vahidnezhad, Hassan, MSc, PhD; Pasteur Institute of Iran
- Kindler Syndrome
- Lipoid Proteinosis
Vakkilainen, Svetlana, MD, PhD; University of Helsinki and Helsinki University Hospital
- Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders
Valdmanis, Paul N, PhD; University of Washington
- Spastic Paraplegia 8
Valencia, C Alexander, PhD; Cincinnati Children’s Hospital Medical Center
- Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
Valentin, Ilia, MD; Heidelberg University
- NR2F1-Related Neurodevelopmental Disorder
Valle, Laura, PhD; Catalan Institute of Oncology
- Lynch Syndrome
Valverde de Morales, Hannah Gabriela, MD; Integra Genetics
- CTCF-Related Disorder
van Belzen, Martine, PhD; Leiden University Medical Center
- Peters Plus Syndrome
van Bokhoven, Hans, PhD; Radboud University Medical Center
- TP63-Related Disorders
van Bon, Bregje WM, MD, PhD; Radboud University Medical Center
- 15q13.3 Recurrent Deletion
- DYRK1A Syndrome
- Schinzel-Giedion Syndrome
- SETBP1 Haploinsufficiency Disorder
Van Broeckhoven, Christine, DSc, PhD; University of Antwerp
- C9orf72-Related Amyotrophic Lateral Sclerosis and/or Frontotemporal Dementia
Van Camp, Guy, PhD; University of Antwerp
- Genetic Hearing Loss Overview
- GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss
- Pendred Syndrome / Nonsyndromic Enlarged Vestibular Aqueduct
van de Warrenburg, Bart P, MD, PhD; Radboud University Nijmegen Medical Center
- ARSACS
Van den Veyver, Ignatia Barbara, MD; Baylor College of Medicine
- Aicardi Syndrome
- PORCN-Related Developmental Disorders
van der Crabben, Saskia N, MD, PhD; Amsterdam UMC
- Serine Deficiency Disorders
van der Knaap, Marjo S, MD, PhD; Amsterdam University Medical Centers
- Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter
- CLCN2-Related Leukoencephalopathy
- Hypomyelination and Congenital Cataract
- Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation
- Megalencephalic Leukoencephalopathy with Subcortical Cysts
- TUBB4A-Related Leukodystrophy
van der Maarel, Silvere M, MD; Leiden University Medical Center
- Facioscapulohumeral Muscular Dystrophy
van der Sluijs, Pleuntje J, MSc; Leiden University Medical Center
- ARID1B-Related Disorder
van der Zee, Julie, PhD; University of Antwerp
- C9orf72-Related Amyotrophic Lateral Sclerosis and/or Frontotemporal Dementia
Van Dijck, Anke, MD, PhD; University of Antwerp
- ADNP-Related Disorder
van Dijk, Fleur S, MD, PhD; London North West University Healthcare NHS Trust
- Periodontal Ehlers-Danlos Syndrome
- TNXB-Related Classical-Like Ehlers-Danlos Syndrome
van Dijk, Tessa, MD, PhD; Leiden University Medical Center
- EXOSC3 Pontocerebellar Hypoplasia
- TSEN54 Pontocerebellar Hypoplasia
Van Esch, Hilde, MD, PhD; University Hospitals Leuven
- MECP2 Duplication Syndrome
Van Hauwe, Peter; University of Antwerp
- Pendred Syndrome / Nonsyndromic Enlarged Vestibular Aqueduct
Van Hove, Johan LK, MD, PhD; University of Colorado School of Medicine
- Nonketotic Hyperglycinemia
van Karnebeek, Clara, MD, PhD; Amsterdam University Medical Centers
- Carbonic Anhydrase VA Deficiency
- PLPBP Deficiency
van Leeuwaarde, Rachel S, MD, PhD; University Medical Center Utrecht
- Von Hippel-Lindau Syndrome
Van Lierop, Antoon, MD, PhD; Leiden University Medical Center
- SOST-Related Sclerosing Bone Dysplasias
Van Maldergem, Lionel, MD, PhD; Université de Franche-Comté
- ATP6V0A2-Related Cutis Laxa
- Baller-Gerold Syndrome
- Berardinelli-Seip Congenital Lipodystrophy
- FBLN5-Related Cutis Laxa
van Nesselrooij, Bernadette, MD, PhD; University Medical Center Utrecht
- Von Hippel-Lindau Syndrome
van Os, Nienke, MD, PhD; Radboud University Medical Center
- Ataxia-Telangiectasia
van Ravenswaaij-Arts, Conny M, MD, PhD; University Medical Center Groningen
- CHD7 Disorder
van Spaendonk, Rosalina ML, PhD; Amsterdam University Medical Center
- PLP1 Disorders
van Steensel, Maurice, MD, PhD; University Hospital Maastricht
- Pachyonychia Congenita
van Swieten, John C, MD, PhD; Erasmus Medical Center
- MAPT-Related Frontotemporal Dementia
Van Zanten, Malou, PhD; St George’s, University of London
- Milroy Disease
Vance, Jeffery M, MD, PhD; Duke University Medical Center
- GDAP1-Related Hereditary Motor and Sensory Neuropathy
Vandana, VP, PhD; National Institute of Mental Health & Neurosciences
- Huppke-Brendel Syndrome
Vander Lugt, Mark, MD; University of Michigan Medical School
- ZAP70-Related Combined Immunodeficiency
Vanderver, Adeline, MD; Children's Hospital of Philadelphia
- LMNB1-Related Autosomal Dominant Leukodystrophy
- Pelizaeus-Merzbacher-Like Disease 1
- POLR3-Related Leukodystrophy
- TUBB4A-Related Leukodystrophy
Vandeweyer, Geert, PhD; Antwerp University Hospital
- ADNP-Related Disorder
VanSickle, Elizabeth, MS; Spectrum Health
- Bachmann-Bupp Syndrome
Vargas, Mauricio, MD, PhD; Oregon Health Sciences University
- Bietti Crystalline Dystrophy
Varon, Raymonda, PhD; Charité – Universitätsmedizin Berlin
- Nijmegen Breakage Syndrome
Varvagiannis, Konstantinos, MD; Cyprus Institute of Neurology & Genetics
- TRIO-Related Neurodevelopmental Disorder
- WAC-Related Intellectual Disability
Vaughan, Douglas E, MD; Northwestern University Feinberg School of Medicine
- Complete Plasminogen Activator Inhibitor 1 Deficiency
Veenhuis, Stefanie, MD; Radboud University Medical Center
- Ataxia-Telangiectasia
Veerapandiyan, Aravindhan, MBBS; University of Rochester Medical Center
- Andersen-Tawil Syndrome
Vega, Hugo H, MD, PhD; City University of New York
- ESCO2 Spectrum Disorder
Velasco, Danita, MD; University of Nebraska Medical Center
- RNU4atac-opathy
- SLC25A24 Fontaine Progeroid Syndrome
Velayos Baeza, Antonio, PhD; Wellcome Trust Centre for Human Genetics
- VPS13A Disease
Velez-Bartolomei, Frances, MD; Stanford University
- MERRF
Velleman, Shelley L, PhD; University of Vermont
- 7q11.23 Duplication Syndrome
Venance, Shannon L, MD, PhD; University of Western Ontario
- Andersen-Tawil Syndrome
Venditti, Charles P, MD, PhD; National Human Genome Research Institute
- Disorders of Intracellular Cobalamin Metabolism
- Isolated Methylmalonic Acidemia
- Propionic Acidemia
Veneziano, Liana, PhD; Italian National Research Council
- DRPLA
Venkateswaran, Sunita, MD; Children's Hospital of Eastern Ontario
- Fatty Acid Hydroxylase-Associated Neurodegeneration
Verdin, Hannah, MSc, PhD; Ghent University Hospital
- Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome
Verloes, Alain, MD, PhD; APHP-Robert Debré University Hospital
- ASPM Primary Microcephaly
- Baraitser-Winter Cerebrofrontofacial Syndrome
- WDR62 Primary Microcephaly
Verma, Ishwar Chandar, MD; Sir Ganga Ram Hospital
- Primrose Syndrome
Vermeer, Sascha, MD, PhD; University Hospital Leuven
- ARSACS
Vernon, Hilary, MD, PhD; Johns Hopkins University
- Barth Syndrome
Vicart, Savine, MD; Assistance Publique – Hôpitaux de Paris
- Hypokalemic Periodic Paralysis
Vichinsky, Elliott, MD; Children's Hospital & Research Center Oakland
- Sickle Cell Disease
Vig, Parminder JS, PhD; University of Mississippi Medical Center
- Spinocerebellar Ataxia Type 3
Vihola, Anna, PhD; Fimlab Laboratories
- ANO5 Muscle Disease
Vikkula, Miikka, MD, PhD; Université catholique de Louvain
- TEK-Related Venous Malformations
Vilain, Eric J, MD, PhD; Children's National Hospital
- Nonsyndromic 46,XX Testicular Disorders/Differences of Sex Development
- NR0B1-Related Adrenal Hypoplasia Congenita
Villa, Anna, MD, PhD; Humanitas Clinical and Research Center
- CLCN7-Related Osteopetrosis
Villanueva, Joyce, MBA, MT; Cincinnati Children's Hospital Medical Center
- Familial Hemophagocytic Lymphohistiocytosis
Vincent, G Michael, MD; University of Utah School of Medicine
- Long QT Syndrome Overview
Viskochil, David H, MD, PhD; University of Utah
- BCL11A-Related Intellectual Disability
- Legius Syndrome
Vissers, Lisenka ELM, PhD; Radboud University Medical Center
- Squalene Synthase Deficiency
- TRIO-Related Neurodevelopmental Disorder
- WAC-Related Intellectual Disability
Vissing, John, DMSc, MD; Rigshospitalet
- Myotonia Congenita
Vnencak-Jones, Cindy, PhD; GC Vanderbilt University Medical Center
- PROP1-Related Combined Pituitary Hormone Deficiency
Vockley, Jerry, MD, PhD; University of Pittsburgh
- Short-Chain Acyl-CoA Dehydrogenase Deficiency
Vogel-Farley, Vanessa, BA; Dup15q Alliance
- Maternal 15q Duplication Syndrome
Volpini, Victor, MD, PhD; Bellvitge Biomedical Research Institute
- Spinocerebellar Ataxia Type 37
Vos, Yvonne J, PhD; University Medical Center Groningen
- L1 Syndrome

Wagner, Klaus, MD, PhD; Medical University Graz
- BSCL2-Related Neurologic Disorders / Seipinopathy
Wagner, Victoria F, MS; McGovern Medical School
- Mucopolysaccharidosis Type III
Wagnon, Jacy L, PhD; University of Michigan
- SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders
Waguespack, Steven G, MD; University of Texas MD Anderson Cancer Center
- CDC73-Related Disorders
Wakefield, Emily, MS; Cincinnati Children’s Hospital Medical Center
- Lymphoproliferative Disease, X-Linked
Waldman, Amy; Children's Hospital of Philadelphia
- Alexander Disease
Walker, Elaine F, PhD; Emory University
- 3q29 Recurrent Deletion
Walker, Ruth H, MBBS, MD, PhD; Mount Sinai School of Medicine
- McLeod Neuroacanthocytosis Syndrome
- VPS13A Disease
Walkovich, Kelly, MD; University of Michigan Medical School
- ZAP70-Related Combined Immunodeficiency
Wallace, Stephanie E, MD; Seattle Children's Hospital
- Camurati-Engelmann Disease
Wallefeld, William, BSc (Hons); Royal Perth Hospital
- Laing Distal Myopathy
Walsh, Christopher A, MD, PhD; Harvard Medical School
- FLNA Deficiency
- Polymicrogyria Overview
Wanders, Ronald JA, PhD; Academic Medical Center, University of Amsterdam
- Adult Refsum Disease
Wang, Bruce, MD; University of California San Francisco
- Hereditary Coproporphyria
Wang, Dong, MD; Emory University Affiliated Hospital
- Glucose Transporter Type 1 Deficiency Syndrome
- Pyruvate Carboxylase Deficiency
Wang, Heng, MD, PhD; DDC Clinic – Center for Special Needs Children
- Cohen Syndrome
- GM3 Synthase Deficiency
- Prolidase Deficiency
Wang, Hsiao-Lin, PhD; Emory University School of Medicine
- CTCF-Related Disorder
Wang, Hua, MD, PhD; Loma Linda University
- MBTPS1-Related Spondyloepimetaphyseal Dysplasia with Elevated Lysosomal Enzymes
Wang, Jing, MD; Baylor College of Medicine
- TK2-Related Mitochondrial DNA Maintenance Defect, Myopathic Form
Wang, Julia, BS; Baylor College of Medicine
- MPV17-Related Hepatocerebral Mitochondrial DNA Maintenance Defect
- TK2-Related Mitochondrial DNA Maintenance Defect, Myopathic Form
Wang, Leo H, MD, PhD; University of Washington
- Facioscapulohumeral Muscular Dystrophy
Wangler, Michael F, MD; Baylor College of Medicine
- ACTG2 Visceral Myopathy
- Xia-Gibbs Syndrome
Wang, Lisa L, MD; Baylor College of Medicine
- Baller-Gerold Syndrome
- Poikiloderma with Neutropenia
- Rothmund-Thomson Syndrome
Wang, Raymond, MD; University of California, Irvine
- Mucopolysaccharidosis Type VII
Wang, Zhao, MD; Beijing Friendship Hospital
- Familial Hemophagocytic Lymphohistiocytosis
Wappner, Rebecca S, MD; Riley Hospital for Children, Indiana University School of Medicine
- Lowe Syndrome
Warby, Simon C, PhD; University of Montreal
- Huntington Disease
Warman, Matthew L, MD; Boston Children's Hospital
- Stickler Syndrome
Wasserstein, Melissa P, MD; Albert Einstein College of Medicine
- Acid Sphingomyelinase Deficiency
- Free Sialic Acid Storage Disorders
- Krabbe Disease
Wassif, Christopher A, PhD; National Institute of Child Health and Human Development
- Smith-Lemli-Opitz Syndrome
Waterham, Hans R, PhD; Academic Medical Center, University of Amsterdam
- Adult Refsum Disease
- Squalene Synthase Deficiency
Waters, Aoife M, BCh, MB BAO, MSc; University College London
- Bardet-Biedl Syndrome Overview
Waters, Michael F, MD, MS, PhD; Barrow Neurological Institute
- Spinocerebellar Ataxia Type 13
Wattendorf, Daniel J, MD; National Institutes of Health
- Xeroderma Pigmentosum
Watts, Giles, PhD; University of East Anglia
- Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia
Waxman, Stephen G, MD, PhD; Yale University School of Medicine
- SCN9A Neuropathic Pain Syndromes
Weaver, K Nicole, MD; Cincinnati Children’s Hospital Medical Center
- HRAS-Related Costello Syndrome
- Sphingosine Phosphate Lyase Insufficiency Syndrome
Weaver, W Curtis, BS; Geisinger Health System
- 16p11.2 Recurrent Deletion
Webb, Bryn D, MD, PhD; Icahn School of Medicine at Mount Sinai
- STAC3 Disorder
Weber, Frank, MD, PhD; German Air Force Center of Aviation Medicine
- Hyperkalemic Periodic Paralysis
- Hypokalemic Periodic Paralysis
Weckhuysen, Sarah, MD, PhD; University of Antwerp
- DEPDC5-Related Epilepsy
- KCNQ2-Related Disorders
- KCNQ3-Related Disorders
Weemaes, Corry, MD, PhD; Radboud University Medical Center
- Ataxia-Telangiectasia
Weese-Mayer, Debra E, MD; Children's Memorial Hospital
- Congenital Central Hypoventilation Syndrome
Wei, Chongjuan, PhD; University of Texas MD Anderson Cancer Center
- Peutz-Jeghers Syndrome
Weinstein, David A, MD, MMSc; University of Connecticut
- Glycogen Storage Disease Type III
- Glycogen Storage Disease Type VI
Weisfeld-Adams, James, MB ChB; Children's Hospital Colorado
- Hereditary Fructose Intolerance
Weiss, Karin, MD; Technion-Israel Institute of Technology
- CHD4 Neurodevelopmental Disorder
Weiss, Karl Heinz, MD; Salem Medical Center
- Wilson Disease
Weiss, Marjan M, MD, PhD; Leiden University Medical Center
- Peters Plus Syndrome
Weiss, Mitchell J, MD, PhD; St Jude Children’s Research Hospital
- GATA1-Related Cytopenia
Weisz Hubshman, Monika, MD, PhD; Rabin Medical Center
- Familial Dysautonomia
Weksberg, Rosanna, MD, PhD; The Hospital for Sick Children
- Beckwith-Wiedemann Syndrome
Weleber, Richard G, MD; Casey Eye Institute of Oregon Health Sciences University
- Bietti Crystalline Dystrophy
- Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview
- Nonsyndromic Retinitis Pigmentosa Overview
Welsh, Holly I, MS; University of Missouri
- Pitt-Hopkins Syndrome
Wenger, David A, PhD; Thomas Jefferson University Hospital
- Krabbe Disease
Wenger, Olivia K, MD; New Leaf Center
- HYAL2 Deficiency
Wenger, Tara L, MD, PhD; Seattle Children's Hospital
- Apert Syndrome
- FGFR Craniosynostosis Syndromes Overview
Wensel, Christine, MS; DDC Clinic – Center for Special Needs Children
- Cohen Syndrome
Wenstrup, Richard, MD; Cincinnati Children's Hospital Medical Center
- Classic Ehlers-Danlos Syndrome
- PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome
Westbroek, Wendy, PhD; National Institutes of Health
- Chediak-Higashi Syndrome
Weston, Michael D, MA; Boys Town National Research Hospital
- Usher Syndrome Type I
- Usher Syndrome Type II
Wevers, Ron A, PhD; Radboud University Nijmegen Medical Center
- CLPB Deficiency
- SERAC1 Deficiency
- Squalene Synthase Deficiency
Whatley, Sharon D, MSc, PhD; University Hospital of Wales
- Acute Intermittent Porphyria
Whitcomb, David C, MD, PhD; University of Pittsburgh & University of Pittsburgh Medical Center
- Pancreatitis Overview
- PRSS1-Related Hereditary Pancreatitis
White-Brown, Alexandre M, MSc; Children's Hospital of Eastern Ontario
- DLG4-Related Synaptopathy
White, Colin T, MD; British Columbia's Children's and Women's Hospital
- Primary Hyperoxaluria Type 1
White, Janson, PhD; Invitae Corporation
- White-Sutton Syndrome
White, Stormi; Emory University School of Medicine
- 3q29 Recurrent Deletion
White, Susan M, MD; Victorian Clinical Genetics Service
- Floating-Harbor Syndrome
Whitman, Mary C, MD, PhD; Harvard Medical School
- Congenital Fibrosis of the Extraocular Muscles Overview
- Duane Syndrome
Whitton, Chloe, BMed, MD; University of New South Wales
- ATN1-Related Neurodevelopmental Disorder
Wider, Christian, MD; Centre Hospitalier Universitaire Vaudois
- DCTN1-Related Neurodegeneration
Wieczorek, Dagmar, MD; Universitätsklinikum Düsseldorf
- Coffin-Siris Syndrome
- TXNL4A-Related Craniofacial Disorders
Wierenga, Andrea, PhD; SIVOTEC Bioinformatics
- MBTPS1-Related Spondyloepimetaphyseal Dysplasia with Elevated Lysosomal Enzymes
Wierenga, Klaas, MD; Mayo Clinic Florida
- MBTPS1-Related Spondyloepimetaphyseal Dysplasia with Elevated Lysosomal Enzymes
- SPTBN4 Disorder
Wieser, Thomas, MD; Fachkrankenhaus Jerichow
- Carnitine Palmitoyltransferase II Deficiency
Wiesner, Georgia L, MD, MS; Children's Hospital of Philadelphia
- Multiple Endocrine Neoplasia Type 2
Wilcox, William R, MD, PhD; Emory University School of Medicine
- Camurati-Engelmann Disease
Wildin, Robert S, MD; Oregon Health Sciences University
- Hereditary Nephrogenic Diabetes Insipidus
Wilkie, Andrew OM, MA; University of Oxford
- Enlarged Parietal Foramina
Wilkin, Douglas J; Federal Bureau of Investigation
- Achondroplasia
Willemsen, Michèl, MD, PhD; Radboud University Medical Center
- Ataxia-Telangiectasia
Williams, Charles A, MD; University of Florida College of Medicine
- Angelman Syndrome
Williams, Denise, MD; Birmingham Women's and Children's Hospital
- Alstrom Syndrome
- WFS1 Spectrum Disorder
Williams, Gretchen, BS; Children’s Hospitals and Clinics of Minnesota
- DICER1 Tumor Predisposition
Williamson, Kathleen A, PhD; University of Edinburgh
- SOX2 Disorder
Wilson, Frederick H, MD, PhD; Harvard Medical School
- Pseudohypoaldosteronism Type II
Winkler, Jürgen, MD; University Hospital Erlangen
- DCX-Related Disorders
Winter, Robin M; Institute of Child Health
- Three M Syndrome
Wise, Anastasia L, PhD; National Jewish Health and University of Colorado Denver
- Pulmonary Fibrosis Predisposition Overview
Wissinger, Bernd, MSc, PhD; University of Tübingen
- Achromatopsia
Wiwattanadittakul, Natrujee, MD; Chiang Mai University
- Succinic Semialdehyde Dehydrogenase Deficiency
Wlodarski, Marcin, MD, PhD; St Jude Children’s Research Hospital
- Monosomy 7 Predisposition Syndromes Overview
Wojcieszek, Joanne, MD; Indiana University School of Medicine
- Parkinson Disease Overview
Wolf, Barry, MD, PhD; Ann and Robert H Lurie Children's Hospital of Chicago
- Biotinidase Deficiency
Wolfe, Lynne, ARNP, MS; National Human Genome Research Institute
- NGLY1-Related Congenital Disorder of Deglycosylation
- Short-Chain Acyl-CoA Dehydrogenase Deficiency
Wolf, Nicole I, MD, PhD; Amsterdam University Medical Centers
- Hypomyelination and Congenital Cataract
- PI4KA-Related Disorder
- PLP1 Disorders
Wollnik, Bernd, MD; University of Cologne
- Coffin-Siris Syndrome
Wong, Derek, MD; University of California Los Angeles Medical Center
- Arginase Deficiency
Wong, Lee-Jun C, PhD; Baylor College of Medicine
- Deoxyguanosine Kinase Deficiency
- FARS2 Deficiency
- FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion Syndrome
- Mitochondrial DNA Maintenance Defects Overview
- MPV17-Related Hepatocerebral Mitochondrial DNA Maintenance Defect
- TK2-Related Mitochondrial DNA Maintenance Defect, Myopathic Form
Wong, Melanie, MBBS, PhD; Children's Hospital Westmead
- Hepatic Veno-Occlusive Disease with Immunodeficiency
Woods, Christopher Geoffrey, MB ChB; University of Cambridge
- Congenital Insensitivity to Pain Overview
Woolf, Adrian S, MA, MD; University of Manchester and Central Manchester University Hospitals NHS Foundation Trust
- Urofacial Syndrome
Wortmann, Saskia B, MD, PhD; Salzburger Landeskliniken and Paracelsus Medical University
- CLPB Deficiency
- SERAC1 Deficiency
Wright, Benjamin, MD; University Hospitals Birmingham
- WFS1 Spectrum Disorder
Wright, Galen EB, PhD; University of British Columbia
- Huntington Disease
Wright, J Timothy, DDS, MS; University of North Carolina
- Hypohidrotic Ectodermal Dysplasia
Wright, Michael J, ChB, MB, MSc; Institute of Human Genetics
- COMP-Related Pseudoachondroplasia
- Multiple Epiphyseal Dysplasia, Dominant
Wszolek, Zbigniew K, MD; Mayo Clinic
- CSF1R-Related Disorder
- DCTN1-Related Neurodegeneration
- DYT-GNAL
- VPS35-Related Parkinson Disease
Wu, Bai-Lin, M Med, PhD; Boston Children's Hospital
- 16p11.2 Recurrent Deletion
Wuyts, Wim, PhD; University and University Hospital of Antwerp
- Hereditary Multiple Osteochondromas

Xia, Maya, BA; COMBINEDBrain
- SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders
Xiao, Changrui, MD; University of California Irvine
Xin, Baozhong, PhD; DDC Clinic – Center for Special Needs Children
- GM3 Synthase Deficiency
Xu, Manlong, MD, PhD; University of Alberta
- Choroideremia

Yamada, Koki, MD, PhD; Children's Hospital Boston
- Congenital Fibrosis of the Extraocular Muscles Overview
Yamada, Mitsunori, MD, PhD; Shinshu University School of Medicine
- Spinocerebellar Ataxia Type 17
Yamanaka, Koji, MD, PhD; RIKEN Brain Science Institute
- ALS2-Related Disorder
Yang, Jiandong, PhD; George Washington University School of Medicine
- DICER1 Tumor Predisposition
Yang, Paul, MD, PhD; Casey Eye Institute - Oregon Health Sciences University
- Bietti Crystalline Dystrophy
- Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview
Yang, Yaping, PhD; AiLife Diagnostics
- TANGO2 Deficiency
Yap, Kai Lee, PhD; Northwestern University
- Congenital Central Hypoventilation Syndrome
Yates, T Michael, MBChB; University of Edinburgh
- SOX2 Disorder
Yau, Mabel, MD; Mount Sinai School of Medicine
- 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
Yehia, Lamis, PhD; Cleveland Clinic
- PTEN Hamartoma Tumor Syndrome
Yen, Timothy, MD; University of Colorado Anschutz Medical Center
- APC-Associated Polyposis Conditions
Yeowell, Heather N, PhD; Duke University Medical Center
- PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome
Yntema, Helger G, PhD; Radboud University Medical Center
- Kleefstra Syndrome
Yonker, Lael, MD; MassGeneral Hospital for Children
- Pitt-Hopkins Syndrome
Yoshida, Kunihiro, MD, PhD; Shinshu University Hospital
- Hereditary Transthyretin Amyloidosis
Youngblom, Emily, BA; University of Washington School of Public Health
- Familial Hypercholesterolemia
Young, Danielle O, MS; Kimball Genetics, Inc
- Celiac Disease
Young, Elizabeth, BSc, PhD; Royal Devon and Exeter Healthcare NHS Trust
- Spondylocostal Dysostosis, Autosomal Recessive
Young, William F, MD, MSc; Mayo Clinic
- Hereditary Paraganglioma-Pheochromocytoma Syndromes
Youssefian, Leila, MSc, PhD; Thomas Jefferson University
- Kindler Syndrome
- Lipoid Proteinosis
Yu-Wai-Man, Patrick, BMedSci, MBBS, PhD; University of Cambridge
- Leber Hereditary Optic Neuropathy
- NR2F1-Related Neurodevelopmental Disorder
Yuan, Bo, PhD; Baylor College of Medicine
- Potocki-Lupski Syndrome

Zackai, Elaine H, MD; Children's Hospital of Philadelphia
- 22q11.2 Deletion Syndrome
- Emanuel Syndrome
Zadeh, Neda, MD; CHOC Children’s Hospital
- KCNK9 Imprinting Syndrome
Zaki, Maha S, MD, PhD; National Research Centre
- UNC80 Deficiency
Zandee, Wouter, MD, PhD; University Medical Center Groningen
- Von Hippel-Lindau Syndrome
Zara, Federico, PhD; G Gaslini Pediatric Institute and University of Genova
- Hypomyelination and Congenital Cataract
Zarate, Yuri A, MD; University of Arkansas for Medical Sciences
- SATB2-Associated Syndrome
Zariwala, Maimoona A, MSc, PhD; University of North Carolina at Chapel Hill
- Primary Ciliary Dyskinesia
Zbuk, Kevin M, MD; Cleveland Clinic Genomic Medicine Institute
- PTEN Hamartoma Tumor Syndrome
Zelley, Kristin, MS; Children's Hospital of Philadelphia
- Li-Fraumeni Syndrome
Zerr, Inga, MD; University Medical School
- Genetic Prion Disease
Zhai, Yi, MD, PhD; University of Alberta
- Choroideremia
Zhang, Kejian, MBA, MD; Mount Sinai Genomics
- Autoimmune Lymphoproliferative Syndrome
- Familial Hemophagocytic Lymphohistiocytosis
- Lymphoproliferative Disease, X-Linked
- Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
- WAS-Related Disorders
- X-Linked Hyper IgM Syndrome
Ziegler, John B, MBBS, MD; Sydney Children's Hospital
- Hepatic Veno-Occlusive Disease with Immunodeficiency
Ziegler, Shira G, MD, PhD; Johns Hopkins University School of Medicine
- Generalized Arterial Calcification of Infancy
Zipfel, Peter F, PhD; Hans Knoll Institute
- C3 Glomerulopathy
Zippin, Jonathan, MD, PhD; Joan and Sanford I Weill Medical College of Cornell University
- Oculocutaneous Albinism and Ocular Albinism Overview
Zobor, Ditta, MD, PhD; University of Tübingen
- Achromatopsia
Zoghbi, Huda Y, MD; Baylor College of Medicine
- MECP2 Disorders
- Spinocerebellar Ataxia Type 1
Zschocke, Johannes, MD, PhD; Medical University of Innsbruck
- Periodontal Ehlers-Danlos Syndrome
Züchner, Stephan, MD, PhD; University of Miami Miller School of Medicine
- GAA-FGF14-Related Ataxia
- GDAP1-Related Hereditary Motor and Sensory Neuropathy
- MFN2 Hereditary Motor and Sensory Neuropathy
- PNPLA6 Disorders

Živná, Martina, PhD; Charles University

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Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. GeneReviews Authors.
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