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Items: 1 to 20 of 29

1.
Rauan Kaiyrzhanov, Aboulfazl Rad, Sheng-Jia Lin, Aida Bertoli-Avella, Wouter W Kallemeijn, Annie Godwin, Maha S Zaki, Kevin Huang, Tracy Lau, Cassidy Petree, Stephanie Efthymiou, Ehsan Ghayoor Karimiani, Maja Hempel, Elizabeth A Normand, Sabine Rudnik-Schöneborn, Ulrich A Schatz, Marc P Baggelaar, Muhammad Ilyas, Tipu Sultan, Javeria Raza Alvi, Manizha Ganieva, Ben Fowler, Ruxandra Aanicai, Gulsen Akay Tayfun, Abdulaziz Al Saman, Abdulrahman Alswaid, Nafise Amiri, Nilufar Asilova, Vorasuk Shotelersuk, Patra Yeetong, Matloob Azam, Meisam Babaei, Gholamreza Bahrami Monajemi, Pouria Mohammadi, Saeed Samie, Selina Husna Banu, Jorge Pinto Basto, Fanny Kortüm, Mislen Bauer, Peter Bauer, Christian Beetz, Masoud Garshasbi, Awatif Hameed Issa, Wafaa Eyaid, Hind Ahmed, Narges Hashemi, Kazem Hassanpour, Isabella Herman, Sherozjon Ibrohimov, Ban A Abdul-Majeed, Maria Imdad, Maksudjon Isrofilov, Qassem Kaiyal, Suliman Khan, Brian Kirmse, Janet Koster, Charles Marques Lourenço, Tadahiro Mitani, Oana Moldovan, David Murphy, Maryam Najafi, Davut Pehlivan, Maria Eugenia Rocha, Vincenzo Salpietro, Miriam Schmidts, Adel Shalata, Mohammad Mahroum, Jawabreh Kassem Talbeya, Robert W Taylor, Dayana Vazquez, Annalisa Vetro, Hans R Waterham, Mashaya Zaman, Tina A Schrader, Wendy K Chung, Renzo Guerrini, James R Lupski, Joseph Gleeson, Mohnish Suri, Yalda Jamshidi, Kailash P Bhatia, Barbara Vona, Michael Schrader, Mariasavina Severino, Matthew Guille, Edward W Tate, Gaurav K Varshney, Henry Houlden, Reza Maroofian
Brain. 2024 Apr; 147(4): 1436–1456. Published online 2023 Nov 10. doi: 10.1093/brain/awad380
PMCID:
PMC10994533
2.
Khrystyna Shchubelka, Liudmyla Turova, Walter Wolfsberger, Kelly Kalanquin, Krista Williston, Oleksii Kurutsa, Anastasiia Makovetska, Yaroslava Hasynets, Violeta Mirutenko, Mykhailo Vakerych, Taras K Oleksyk
J Neurodev Disord. 2024; 16: 13. Published online 2024 Mar 27. doi: 10.1186/s11689-024-09528-x
PMCID:
PMC10967201
3.
Lisa Pavinato, Marina Villamor-Payà, Maria Sanchiz-Calvo, Cristina Andreoli, Marina Gay, Marta Vilaseca, Gianluca Arauz-Garofalo, Andrea Ciolfi, Alessandro Bruselles, Tommaso Pippucci, Valentina Prota, Diana Carli, Elisa Giorgio, Francesca Clementina Radio, Vincenzo Antona, Mario Giuffrè, Kara Ranguin, Cindy Colson, Silvia De Rubeis, Paola Dimartino, Joseph Buxbaum, Giovanni Battista Ferrero, Marco Tartaglia, Simone Martinelli, Travis H. Stracker, Alfredo Brusco
J Med Genet.
Published in final edited form as: J Med Genet. 2022 Feb; 59(2): 170–179. Published online 2020 Dec 15. doi: 10.1136/jmedgenet-2020-107281
PMCID:
PMC10631451
4.
Heather E. Olson, Scott Demarest, Elia Pestana-Knight, Ahsan N. Moosa, Xiaoming Zhang, José R. Pérez-Pérez, Judy Weisenberg, Erin O’Connor Prange, Eric D. Marsh, Rajsekar R. Rajaraman, Bernhard Suter, Akshat Katyayan, Isabel Haviland, Carolyn Daniels, Bo Zhang, Caitlin Greene, Michelle DeLeo, Lindsay Swanson, Jamie Love-Nichols, Timothy Benke, Chellamani Harini, Annapurna Poduri
Epilepsia.
Published in final edited form as: Epilepsia. 2023 Jul; 64(7): 1821–1832. Published online 2023 May 15. doi: 10.1111/epi.17630
PMCID:
PMC10524264
5.
Congjie Chen, Ningning Chen, Li Xie, Yuanyuan Luo, Jiannan Ma, Tingsong Li
Epilepsia Open. 2023 Sep; 8(3): 1133–1141. Published online 2023 Jul 28. doi: 10.1002/epi4.12794
PMCID:
PMC10472363
6.
Miriam Kessi, Baiyu Chen, Li-Dan Shan, Ying Wang, Lifen Yang, Fei Yin, Fang He, Jing Peng, Guoli Wang
BMC Med Genomics. 2023; 16: 46. Published online 2023 Mar 7. doi: 10.1186/s12920-023-01474-2
PMCID:
PMC9990233
7.
Lucia Laugwitz, Annette Seibt, Diran Herebian, Susana Peralta, Imke Kienzle, Rebecca Buchert, Ruth Falb, Darja Gauck, Amelie Müller, Mona Grimmel, Stefanie Beck-Woedel, Jan Kern, Karim Daliri, Pegah Katibeh, Katharina Danhauser, Steffen Leiz, Viola Alesi, Fabian Baertling, Gessica Vasco, Robert Steinfeld, Matias Wagner, Ahmet Okay Caglayan, Hakan Gumus, Margit Burmeister, Ertan Mayatepek, Diego Martinelli, Parag Mohan Tamhankar, Vasundhara Tamhankar, Pascal Joset, Katharina Steindl, Anita Rauch, Penelope E Bonnen, Tawfiq Froukh, Samuel Groeschel, Ingeborg Krägeloh-Mann, Tobias B Haack, Felix Distelmaier
J Med Genet.
Published in final edited form as: J Med Genet. 2022 Sep; 59(9): 878–887. Published online 2021 Oct 16. doi: 10.1136/jmedgenet-2021-107729
PMCID:
PMC9807242
8.
Jennifer A. Kearney, Letonia D. Copeland-Hardin, Samantha Duarte, Nicole A. Zachwieja, Isaiah K. Eckart-Frank, Nicole A. Hawkins
Mamm Genome. 2022; 33(4): 565–574. Published online 2022 May 23. doi: 10.1007/s00335-022-09955-y
PMCID:
PMC9616761
9.
Johanna Krüger, Julian Schubert, Josua Kegele, Audrey Labalme, Miaomiao Mao, Jacqueline Heighway, Guiscard Seebohm, Pu Yan, Mahmoud Koko, Kezban Aslan-Kara, Hande Caglayan, Bernhard J. Steinhoff, Yvonne G. Weber, Pascale Keo-Kosal, Samuel F. Berkovic, Michael S. Hildebrand, Steven Petrou, Roland Krause, Patrick May, Gaetan Lesca, Snezana Maljevic, Holger Lerche
eBioMedicine. 2022 Oct; 84: 104244. Published online 2022 Sep 9. doi: 10.1016/j.ebiom.2022.104244
PMCID:
PMC9471468
10.
Paras A Patel, Julia Hegert, Ingrid Cristian, Alicia Kerr, Leslie EW LaConte, Michael A Fox, Sarika Srivastava, Konark Mukherjee
J Med Genet.
Published in final edited form as: J Med Genet. 2022 Nov; 59(11): 1044–1057. Published online 2022 Feb 11. doi: 10.1136/jmedgenet-2021-108115
PMCID:
PMC9365889
11.
Hannah Stamberger, David Crosiers, Ganna Balagura, Claudia M. Bonardi, Anna Basu, Gaetano Cantalupo, Valentina Chiesa, Jakob Christensen, Bernardo Dalla Bernardina, Colin A. Ellis, Francesca Furia, Fiona Gardiner, Camille Giron, Renzo Guerrini, Karl Martin Klein, Christian Korff, Hana Krijtova, Melanie Leffner, Holger Lerche, Gaetan Lesca, David Lewis-Smith, Carla Marini, Dragan Marjanovic, Laure Mazzola, Sarah McKeown Ruggiero, Fanny Mochel, Francis Ramond, Philipp S. Reif, Aurélie Richard-Mornas, Felix Rosenow, Christian Schropp, Rhys H. Thomas, Aglaia Vignoli, Yvonne Weber, Elizabeth Palmer, Ingo Helbig, Ingrid E. Scheffer, Pasquale Striano, Rikke S. Møller, Elena Gardella, Sarah Weckhuysen
Neurology. 2022 Jul 19; 99(3): e221–e233. doi: 10.1212/WNL.0000000000200715
PMCID:
PMC9302932
12.
Gökhan Yigit, Ruth Sheffer, Muhannad Daana, Yun Li, Emrah Kaygusuz, Hagar Mor-Shakad, Janine Altmüller, Peter Nürnberg, Liza Douiev, Silke Kaulfuss, Peter Burfeind, Bernd Wollnik, Knut Brockmann
J Med Genet. 2022 Jun; 59(6): 549–553. Published online 2021 Jun 25. doi: 10.1136/jmedgenet-2021-107769
PMCID:
PMC9132866
13.
Luciana Musante, Paola Costa, Caterina Zanus, Flavio Faletra, Flora M. Murru, Anna M. Bianco, Martina La Bianca, Giulia Ragusa, Emmanouil Athanasakis, Adamo P. d’Adamo, Marco Carrozzi, Paolo Gasparini
Genes (Basel) 2022 Mar; 13(3): 500. Published online 2022 Mar 12. doi: 10.3390/genes13030500
PMCID:
PMC8953579
14.
Veronica C. Beck, Lori L. Isom, Anne T. Berg
J Pediatr.
Published in final edited form as: J Pediatr. 2021 Oct; 237: 41–49.e1. Published online 2021 Jun 26. doi: 10.1016/j.jpeds.2021.06.034
PMCID:
PMC8478841
15.
Anne T. Berg, Sonal Mahida, Annapurna Poduri
Ann Clin Transl Neurol. 2021 Mar; 8(3): 666–676. Published online 2021 Feb 22. doi: 10.1002/acn3.51316
PMCID:
PMC7951099
16.
Andreas Traschütz, Tommaso Schirinzi, Lucia Laugwitz, Nathan H. Murray, Craig A. Bingman, Selina Reich, Jan Kern, Anna Heinzmann, Gessica Vasco, Enrico Bertini, Ginevra Zanni, Alexandra Durr, Stefania Magri, Franco Taroni, Alessandro Malandrini, Jonathan Baets, Peter de Jonghe, Willem de Ridder, Matthieu Bereau, Stephanie Demuth, Christos Ganos, A. Nazli Basak, Hasmet Hanagasi, Semra Hiz Kurul, Benjamin Bender, Ludger Schöls, Ute Grasshoff, Thomas Klopstock, Rita Horvath, Bart van de Warrenburg, Lydie Burglen, Christelle Rougeot, Claire Ewenczyk, Michel Koenig, Filippo M. Santorelli, Mathieu Anheim, Renato P. Munhoz, Tobias Haack, Felix Distelmaier, David J. Pagliarini, Hélène Puccio, Matthis Synofzik
Ann Neurol. 2020 Aug; 88(2): 251–263. Published online 2020 Jun 10. doi: 10.1002/ana.25751
PMCID:
PMC7877690
17.
Andrés Moreno-De-Luca, Francisca Millan, Denis R. Pesacreta, Houda Z. Elloumi, Matthew T. Oetjens, Claire Teigen, Karen E. Wain, Julie Scuffins, Scott M. Myers, Rebecca I. Torene, Vladimir G. Gainullin, Kevin Arvai, H. Lester Kirchner, David H. Ledbetter, Kyle Retterer, Christa L. Martin
JAMA. 2021 Feb 2; 325(5): 467–475. Published online 2021 Feb 2. doi: 10.1001/jama.2020.26148
PMCID:
PMC7856544
18.
Félixe Pelletier, Stefanie Perrier, Ferdy K Cayami, Amytice Mirchi, Stephan Saikali, Luan T Tran, Nicole Ulrick, Kether Guerrero, Emmanouil Rampakakis, Rosalina M L van Spaendonk, Sakkubai Naidu, Daniela Pohl, William T Gibson, Michelle Demos, Cyril Goizet, Ingrid Tejera-Martin, Ana Potic, Brent L Fogel, Bernard Brais, Michel Sylvain, Guillaume Sébire, Charles Marques Lourenço, Joshua L Bonkowsky, Coriene Catsman-Berrevoets, Pedro S Pinto, Sandya Tirupathi, Petter Strømme, Ton de Grauw, Dorota Gieruszczak-Bialek, Ingeborg Krägeloh-Mann, Hanna Mierzewska, Heike Philippi, Julia Rankin, Tahir Atik, Brenda Banwell, William S Benko, Astrid Blaschek, Annette Bley, Eugen Boltshauser, Drago Bratkovic, Klara Brozova, Icíar Cimas, Christopher Clough, Bernard Corenblum, Argirios Dinopoulos, Gail Dolan, Flavio Faletra, Raymond Fernandez, Janice Fletcher, Maria Eugenia Garcia Garcia, Paolo Gasparini, Janina Gburek-Augustat, Dolores Gonzalez Moron, Aline Hamati, Inga Harting, Christoph Hertzberg, Alan Hill, Grace M Hobson, A Micheil Innes, Marcelo Kauffman, Susan M Kirwin, Gerhard Kluger, Petra Kolditz, Urania Kotzaeridou, Roberta La Piana, Eriskay Liston, William McClintock, Meriel McEntagart, Fiona McKenzie, Serge Melançon, Anjum Misbahuddin, Mohnish Suri, Fernando I Monton, Sebastien Moutton, Raymond P J Murphy, Miriam Nickel, Hüseyin Onay, Simona Orcesi, Ferda Özkınay, Steffi Patzer, Helio Pedro, Sandra Pekic, Mercedes Pineda Marfa, Amy Pizzino, Barbara Plecko, Bwee Tien Poll-The, Vera Popovic, Dietz Rating, Marie-France Rioux, Norberto Rodriguez Espinosa, Anne Ronan, John R Ostergaard, Elsa Rossignol, Rocio Sanchez-Carpintero, Anna Schossig, Nesrin Senbil, Laura K Sønderberg Roos, Cathy A Stevens, Matthis Synofzik, László Sztriha, Daniel Tibussek, Dagmar Timmann, Davide Tonduti, Bart P van de Warrenburg, Maria Vázquez-López, Sunita Venkateswaran, Pontus Wasling, Evangeline Wassmer, Richard I Webster, Gert Wiegand, Grace Yoon, Joost Rotteveel, Raphael Schiffmann, Marjo S van der Knaap, Adeline Vanderver, Gabriel Á Martos-Moreno, Constantin Polychronakos, Nicole I Wolf, Geneviève Bernard
J Clin Endocrinol Metab. 2021 Feb; 106(2): e660–e674. Published online 2020 Oct 1. doi: 10.1210/clinem/dgaa700
PMCID:
PMC7823228
19.
Baris Alten, Qiangjun Zhou, Ok-Ho Shin, Luis Esquivies, Pei-Yi Lin, K. Ian White, Rong Sun, Wendy K. Chung, Lisa M. Monteggia, Axel T. Brunger, Ege T. Kavalali
Neuron.
Published in final edited form as: Neuron. 2021 Jan 6; 109(1): 59–72.e5. Published online 2020 Nov 3. doi: 10.1016/j.neuron.2020.10.012
PMCID:
PMC7790958
20.
Lauren B. Carter, Agatino Battaglia, Athena Cherry, Melanie A. Manning, Maura RZ Ruzhnikov, Lynne M. Bird, Leah Dowsett, John M. Graham, Jr., Fowzan S. Alkuraya, Mais Hashem, Mary Beth Dinulos, Stephanie Vallee, Margaret P. Adam, Ian Glass, Anita E. Beck, Cathy A. Stevens, Elaine Zackai, Carey McDougall, Beth Keena, Angela Peron, Aglaia Vignoli, Laurie H. Seaver, Thomas P. Slavin, Louanne Hudgins
Am J Med Genet A.
Published in final edited form as: Am J Med Genet A. 2019 Aug; 179(8): 1543–1546. Published online 2019 Jun 17. doi: 10.1002/ajmg.a.61266
PMCID:
PMC7254578

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