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Select item 49740651.

Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy

Robert Kopajtich, Kei Murayama, Andreas R. Janecke, Tobias B. Haack, Maximilian Breuer, A.S. Knisely, Inga Harting, Toya Ohashi, Yasushi Okazaki, Daisaku Watanabe, Yoshimi Tokuzawa, Urania Kotzaeridou, Stefan Kölker, Sven Sauer, Matthias Carl, Simon Straub, Andreas Entenmann, Elke Gizewski, René G. Feichtinger, Johannes A. Mayr, Karoline Lackner, Tim M. Strom, Thomas Meitinger, Thomas Müller, Akira Ohtake, Georg F. Hoffmann, Holger Prokisch, Christian Staufner

Am J Hum Genet. 2016 Aug 4; 99(2): 414–422. Published online 2016 Jul 14. doi: 10.1016/j.ajhg.2016.05.027

PMCID:: PMC4974065

Abstract Article PDF–1.2M

Select item 108953802.

Novel variants in TNRC6B cause global developmental delay with speech and behavioral abnormalities, short stature, low body weight, café‐au‐lait spots, and metabolic abnormality

Qi Yang, Shan Ou, Xunzhao Zhou, Sheng Yi, Li Lin, Shang Yi, Shujie Zhang, Zailong Qin, Jingsi Luo

Mol Genet Genomic Med. 2024 Feb; 12(2): e2408. Published online 2024 Feb 26. doi: 10.1002/mgg3.2408

PMCID:: PMC10895380

Abstract Article PDF–1.1M

Select item 108766293.

Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features

Morad Ansari, Kamli N.W. Faour, Akiko Shimamura, Graeme Grimes, Emeline M. Kao, Erica R. Denhoff, Ana Blatnik, Daniel Ben-Isvy, Lily Wang, Benjamin M. Helm, Helen Firth, Amy M. Breman, Emilia K. Bijlsma, Aiko Iwata-Otsubo, Thomy J.L. de Ravel, Vincent Fusaro, Alan Fryer, Keith Nykamp, Lara G. Stühn, Tobias B. Haack, G. Christoph Korenke, Panayiotis Constantinou, Kinga M. Bujakowska, Karen J. Low, Emily Place, Jennifer Humberson, Melanie P. Napier, Jessica Hoffman, Jane Juusola, Matthew A. Deardorff, Wanqing Shao, Shira Rockowitz, Ian Krantz, Maninder Kaur, Sarah Raible, Victoria Dortenzio, Sabine Kliesch, Moriel Singer-Berk, Emily Groopman, Stephanie DiTroia, Sonia Ballal, Siddharth Srivastava, Kathrin Rothfelder, Saskia Biskup, Jessica Rzasa, Jennifer Kerkhof, Haley McConkey, Bekim Sadikovic, Sarah Hilton, Siddharth Banka, Frank Tüttelmann, Donald F. Conrad, Anne O’Donnell-Luria, Michael E. Talkowski, David R. FitzPatrick, Philip M. Boone

HGG Adv. 2024 Apr 11; 5(2): 100273. Published online 2024 Jan 30. doi: 10.1016/j.xhgg.2024.100273

PMCID:: PMC10876629

Abstract Article PDF–3.1M

Select item 107674174.

Clinical analysis of Gabriele‐de Vries caused by YY1 mutations and literature review

Jingjing Yang, Chaonan Yu, Nan Lyn, Lei Liu, Dongxiao Li, Qing Shang

Mol Genet Genomic Med. 2024 Jan; 12(1): e2281. Published online 2023 Sep 1. doi: 10.1002/mgg3.2281

PMCID:: PMC10767417

Abstract Article PDF–2.7M

Select item 106209445.

Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities

Elisa Cali, Mohnish Suri, Marcello Scala, Matteo P. Ferla, Shahryar Alavi, Eissa Ali Faqeih, Emilia K. Bijlsma, Kristen M. Wigby, Diana Baralle, Mohammad Y.V. Mehrjardi, Jennifer Schwab, Konrad Platzer, Katharina Steindl, Mais Hashem, Marilyn Jones, Dmitriy M. Niyazov, Jennifer Jacober, Rebecca Okashah Littlejohn, Denisa Weis, Neda Zadeh, Lance Rodan, Alice Goldenberg, François Lecoquierre, Marina Dutra-Clarke, Gabriella Horvath, Dana Young, Naama Orenstein, Shahad Bawazeer, Anneke T. Vulto-van Silfhout, Yvan Herenger, Mohammadreza Dehghani, Seyed Mohammad Seyedhassani, Amir Bahreini, Mahya E. Nasab, A. Gulhan Ercan-Sencicek, Zahra Firoozfar, Mojtaba Movahedinia, Stephanie Efthymiou, Pasquale Striano, Ehsan Ghayoor Karimiani, Vincenzo Salpietro, Jenny C. Taylor, Melody Redman, Alexander P.A. Stegmann, Andreas Laner, Ghada Abdel-Salam, Megan Li, Mario Bengala, Amelie Johanna Müller, Maria C. Digilio, Anita Rauch, Murat Gunel, Hannah Titheradge, Daniela N. Schweitzer, Alison Kraus, Irene Valenzuela, Scott D. McLean, Chanika Phornphutkul, Mustafa Salih, Amber Begtrup, Rhonda E. Schnur, Erin Torti, Tobias B. Haack, Carlos E. Prada, Fowzan S. Alkuraya, Henry Houlden, Reza Maroofian

Genet Med. 2023 Jan; 25(1): 135–142. doi: 10.1016/j.gim.2022.09.016

PMCID:: PMC10620944

Abstract Article PDF–1.9M

Select item 105578436.

Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features

Morad Ansari, Kamli N. W. Faour, Akiko Shimamura, Graeme Grimes, Emeline M. Kao, Erica R. Denhoff, Ana Blatnik, Daniel Ben-Isvy, Lily Wang, Benjamin M. Helm, Helen Firth, Amy M. Breman, Emilia K. Bijlsma, Aiko Iwata-Otsubo, Thomy J.L. de Ravel, Vincent Fusaro, Alan Fryer, Keith Nykamp, Lara G. Stühn, Tobias B. Haack, G. Christoph Korenke, Panayiotis Constantinou, Kinga M. Bujakowska, Karen J. Low, Emily Place, Jennifer Humberson, Melanie P. Napier, Jessica Hoffman, Jane Juusola, Matthew A. Deardorff, Wanqing Shao, Shira Rockowitz, Ian Krantz, Maninder Kaur, Sarah Raible, Sabine Kliesch, Moriel Singer-Berk, Emily Groopman, Stephanie DiTroia, Sonia Ballal, Siddharth Srivastava, Kathrin Rothfelder, Saskia Biskup, Jessica Rzasa, Jennifer Kerkhof, Haley McConkey, Anne O’Donnell-Luria, Bekim Sadikovic, Sarah Hilton, Siddharth Banka, Frank Tüttelmann, Donald Conrad, Michael E. Talkowski, David R. FitzPatrick, Philip M. Boone

Version 1. medRxiv. Preprint. 2023 Sep 28. doi: 10.1101/2023.09.27.23294269

Published in:: HGG Adv. 2024 Apr 11; 5(2): 100273.

PMCID:: PMC10557843

Abstract Article PDF–1.2M

Select item 101001257.

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

Clémence Jacquin, Emilie Landais, Céline Poirsier, Alexandra Afenjar, Ahmad Akhavi, Nathalie Bednarek, Caroline Bénech, Adeline Bonnard, Damien Bosquet, Lydie Burglen, Patrick Callier, Sandra Chantot‐Bastaraud, Christine Coubes, Charles Coutton, Bruno Delobel, Margaux Descharmes, Jean‐Michel Dupont, Vincent Gatinois, Nicolas Gruchy, Sarah Guterman, Abdelkader Heddar, Lucas Herissant, Delphine Heron, Bertrand Isidor, Pauline Jaeger, Guillaume Jouret, Boris Keren, Paul Kuentz, Cedric Le Caignec, Jonathan Levy, Nathalie Lopez, Zoe Manssens, Dominique Martin‐Coignard, Isabelle Marey, Cyril Mignot, Chantal Missirian, Céline Pebrel‐Richard, Lucile Pinson, Jacques Puechberty, Sylvia Redon, Damien Sanlaville, Marta Spodenkiewicz, Anne‐Claude Tabet, Alain Verloes, Gaelle Vieville, Catherine Yardin, François Vialard, Martine Doco‐Fenzy

Am J Med Genet A. 2023 Feb; 191(2): 445–458. Published online 2022 Nov 11. doi: 10.1002/ajmg.a.63041

PMCID:: PMC10100125

Abstract Article PDF–3.2M

Select item 96167758.

Pathogenic correlation between mosaic variegated aneuploidy 1 (MVA1) and a novel BUB1B variant: a reappraisal of a severe syndrome

Piero Pavone, Xena Giada Pappalardo, Naira Mustafa, Raffaele Falsaperla, Simona Domenica Marino, Giovanni Corsello, Sebastiano Bianca, Enrico Parano, Martino Ruggieri

Neurol Sci. 2022; 43(11): 6529–6538. Published online 2022 Jul 9. doi: 10.1007/s10072-022-06247-w

PMCID:: PMC9616775

Abstract Article PDF–1.2M

Select item 91721219.

Compound heterozygous variations in IARS1 cause recurrent liver failure and growth retardation in a Chinese patient: a case report

Ting-Ting Zou, Hua-Qin Sun, Yu Zhu, Tian-Tian He, Wen-Wu Ling, Hong-Mei Zhu, Zi-Yuan Lin, Yan-Yan Liu, Shan-Ling Liu, He Wang, Xue-Mei Zhang

BMC Pediatr. 2022; 22: 329. Published online 2022 Jun 7. doi: 10.1186/s12887-022-03371-6

PMCID:: PMC9172121

Abstract Article PDF–2.2M

Select item 901997910.

Molecular cytogenetic characterization of partial trisomy of the long arm of chromosome 11 in a patient with multiple congenital anomalies

Austin Walker, Xianfu Wang, Young Mi Kim, Xianglan Lu, Ashley Taylor, Danielle Demarzo, Shibo Li, Hui Pang

Mol Cytogenet. 2022; 15: 17. Published online 2022 Apr 19. doi: 10.1186/s13039-022-00595-0

PMCID:: PMC9019979

Abstract Article PDF–1.4M

Select item 894815811.

Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity

Alina Kurolap, Florian Kreuder, Claudia Gonzaga-Jauregui, Morasha Plesser Duvdevani, Tamar Harel, Luna Tammer, Baozhong Xin, Somayeh Bakhtiari, James Rice, Clare L. van Eyk, Jozef Gecz, Jean K. Mah, Derek Atkinson, Heidi Cope, Jennifer A. Sullivan, Alon M. Douek, Daniel Colquhoun, Jason Henry, Donald Wlodkowic, Yesim Parman, Ayşe Candayan, Elif Kocasoy-Orhan, Anat Ilivitzki, Shiri Soudry, Rina Leibu, Fabian Glaser, Valerie Sency, Undiagnosed Diseases Network, Gil Ast, Vandana Shashi, Michael C. Fahey, Esra Battaloğlu, Albena Jordanova, Vardiella Meiner, A. Micheil Innes, Heng Wang, Orly Elpeleg, Michael C. Kruer, Jan Kaslin, Hagit Baris Feldman

Am J Hum Genet. 2022 Mar 3; 109(3): 518–532. Published online 2022 Feb 1. doi: 10.1016/j.ajhg.2022.01.004

PMCID:: PMC8948158

Abstract Article PDF–2.4M

Select item 824842512.

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development

Geeske M. van Woerden, Melanie Bos, Charlotte de Konink, Ben Distel, Rossella Avagliano Trezza, Natasha E. Shur, Kristin Barañano, Sonal Mahida, Anna Chassevent, Allison Schreiber, Angelika L. Erwin, Karen W. Gripp, Fatima Rehman, Saskia Brulleman, Róisín McCormack, Gwynna de Geus, Louisa Kalsner, Arthur Sorlin, Ange‐Line Bruel, David A. Koolen, Melissa K. Gabriel, Mari Rossi, David R. Fitzpatrick, Andrew O.M. Wilkie, Eduardo Calpena, David Johnson, Alice Brooks, Marjon van Slegtenhorst, Julie Fleischer, Daniel Groepper, Kristin Lindstrom, A. Micheil Innes, Allison Goodwin, Jennifer Humberson, Amanda Noyes, Katherine G. Langley, Aida Telegrafi, Amy Blevins, Jessica Hoffman, Maria J. Guillen Sacoto, Jane Juusola, Kristin G. Monaghan, Sumit Punj, Marleen Simon, Rolph Pfundt, Ype Elgersma, Tjitske Kleefstra

Hum Mutat. 2021 Apr; 42(4): 445–459. Published online 2021 Mar 1. doi: 10.1002/humu.24176

PMCID:: PMC8248425

Abstract Article PDF–7.4M

Select item 820616213.

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

Maya Chopra, Meriel McEntagart, Jill Clayton-Smith, Konrad Platzer, Anju Shukla, Katta M. Girisha, Anupriya Kaur, Parneet Kaur, Rolph Pfundt, Hermine Veenstra-Knol, Grazia M.S. Mancini, Gerarda Cappuccio, Nicola Brunetti-Pierri, Fanny Kortüm, Maja Hempel, Jonas Denecke, Anna Lehman, CAUSES Study, Tjitske Kleefstra, Kyra E. Stuurman, Martina Wilke, Michelle L. Thompson, E. Martina Bebin, Emilia K. Bijlsma, Mariette J.V. Hoffer, Cacha Peeters-Scholte, Anne Slavotinek, William A. Weiss, Tiffany Yip, Ugur Hodoglugil, Amy Whittle, Janette diMonda, Juanita Neira, Sandra Yang, Amelia Kirby, Hailey Pinz, Rosan Lechner, Frank Sleutels, Ingo Helbig, Sarah McKeown, Katherine Helbig, Rebecca Willaert, Jane Juusola, Jennifer Semotok, Medard Hadonou, John Short, Genomics England Research Consortium, Naomi Yachelevich, Sajel Lala, Alberto Fernández-Jaen, Janvier Porta Pelayo, Chiara Klöckner, Susanne B. Kamphausen, Rami Abou Jamra, Maria Arelin, A. Micheil Innes, Anni Niskakoski, Sam Amin, Maggie Williams, Julie Evans, Sarah Smithson, Damian Smedley, Anna de Burca, Usha Kini, Martin B. Delatycki, Lyndon Gallacher, Alison Yeung, Lynn Pais, Michael Field, Ellenore Martin, Perrine Charles, Thomas Courtin, Boris Keren, Maria Iascone, Anna Cereda, Gemma Poke, Véronique Abadie, Christel Chalouhi, Padmini Parthasarathy, Benjamin J. Halliday, Stephen P. Robertson, Stanislas Lyonnet, Jeanne Amiel, Christopher T. Gordon

Am J Hum Genet. 2021 Jun 3; 108(6): 1138–1150. Published online 2021 Apr 27. doi: 10.1016/j.ajhg.2021.04.007

PMCID:: PMC8206162

Abstract Article PDF–3.0M

Select item 764759614.

A novel 1p33p32.2 deletion involving SCP2, ORC1, and DAB1 genes in a patient with craniofacial dysplasia, short stature, developmental delay, and leukoencephalopathy: A case report

Maoying Jiang, Shanlin Wang, Fei Li, Juan Geng, Yiting Ji, Ke Li, Xiaodong Jiang

Medicine (Baltimore) 2020 Nov 6; 99(45): e23033. Published online 2020 Nov 6. doi: 10.1097/MD.0000000000023033

PMCID:: PMC7647596

Abstract Article PDF–947K

Select item 743074115.

Two mouse models carrying truncating mutations in Magel2 show distinct phenotypes

Daisuke Ieda, Yutaka Negishi, Tomomi Miyamoto, Yoshikazu Johmura, Natsuko Kumamoto, Kohji Kato, Ichiro Miyoshi, Makoto Nakanishi, Shinya Ugawa, Hisashi Oishi, Shinji Saitoh

PLoS One. 2020; 15(8): e0237814. Published online 2020 Aug 17. doi: 10.1371/journal.pone.0237814

PMCID:: PMC7430741

Abstract Article PDF–2.0M

Select item 719079116.

KAT6B Genetic Variant Identified in a Short Stature Chinese Infant: A Report of Physical Growth in Clinical Spectrum of KAT6B-Related Disorders

Liuyan Zhu, Lina Lv, Dingwen Wu, Jie Shao

Front Pediatr. 2020; 8: 124. Published online 2020 Apr 23. doi: 10.3389/fped.2020.00124

PMCID:: PMC7190791

Abstract Article PDF–512K

Select item 628827917.

Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism

Joshi Stephen, Sateesh Maddirevula, Sheela Nampoothiri, John D. Burke, Matthew Herzog, Anju Shukla, Katharina Steindl, Ascia Eskin, Siddaramappa J. Patil, Pascal Joset, Hane Lee, Lisa. J. Garrett, Tadafumi Yokoyama, Nicholas Balanda, Steven P. Bodine, Nathanial J. Tolman, Patricia M. Zerfas, Allison Zheng, Georgia Ramantani, Katta M. Girisha, Cecilia Rivas, Pujar V. Suresh, Abdel Elkahloun, Hessa S. Alsaif, Salma M. Wakil, Laila Mahmoud, Rehab Ali, Michaela Prochazkova, Undiagnosed Diseases Network members, Ashok B. Kulkarni, Tawfeg Ben-Omran, Dilek Colak, H. Douglas Morris, Anita Rauch, Julian A. Martinez-Agosto, Stanley F. Nelson, Fowzan S. Alkuraya, William A. Gahl, May Christine V. Malicdan

Am J Hum Genet. 2018 Dec 6; 103(6): 948–967. Published online 2018 Dec 6. doi: 10.1016/j.ajhg.2018.11.001

PMCID:: PMC6288279

Abstract Article PDF–3.4M

Select item 563016318.

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features

Paweł Stankiewicz, Tahir N. Khan, Przemyslaw Szafranski, Leah Slattery, Haley Streff, Francesco Vetrini, Jonathan A. Bernstein, Chester W. Brown, Jill A. Rosenfeld, Surya Rednam, Sarah Scollon, Katie L. Bergstrom, Donald W. Parsons, Sharon E. Plon, Marta W. Vieira, Caio R.D.C. Quaio, Wagner A.R. Baratela, Johanna C. Acosta Guio, Ruth Armstrong, Sarju G. Mehta, Patrick Rump, Rolph Pfundt, Raymond Lewandowski, Erica M. Fernandes, Deepali N. Shinde, Sha Tang, Juliane Hoyer, Christiane Zweier, André Reis, Carlos A. Bacino, Rui Xiao, Amy M. Breman, Janice L. Smith, Deciphering Developmental Disorders Study, Nicholas Katsanis, Bret Bostwick, Bernt Popp, Erica E. Davis, Yaping Yang

Am J Hum Genet. 2017 Oct 5; 101(4): 503–515. Published online 2017 Sep 21. doi: 10.1016/j.ajhg.2017.08.014

PMCID:: PMC5630163

Abstract Article PDF–1.5M

Select item 510999319.

Disorders of Transcriptional Regulation: An Emerging Category of Multiple Malformation Syndromes

Kosuke Izumi

Mol Syndromol. 2016 Oct; 7(5): 262–273. Published online 2016 Sep 2. doi: 10.1159/000448747

PMCID:: PMC5109993

Abstract Article PDF–346K

Select item 439957320.

Cutis Aplasia as a clinical hallmark for the syndrome associated with 19q13.11 deletion: the possible role for UBA2 gene

Joana B Melo, Alexandra Estevinho, Jorge Saraiva, Lina Ramos, Isabel M Carreira

Mol Cytogenet. 2015; 8: 21. Published online 2015 Mar 26. doi: 10.1186/s13039-015-0123-x

PMCID:: PMC4399573

Abstract Article PDF–1.2M

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