Yoo-Jin Jiny Ha 1,2,3,4, Ashna Nisal 1,2, Isaac Tang 1,2, Chanjae Lee 5, Ishani Jhamb 1,2, Cassidy Wallace 1,2, Robyn Howarth 1,2, Sarah Schroeder 1,2, Keng loi Vong 1,2, Naomi Meave 1,2, Fiza Jiwani 1,2, Chelsea Barrows 1,2, Sangmoon Lee 1,2, Nan Jiang 1,2, Arzoo Patel 1,2, Krisha Bagga 1,2, Niyati Banka 1,2, Liana Friedman 1,2, Francisco A. Blanco 6, Seyoung Yu 4,7, Soeun Rhee 8, Hui Su Jeong 1,2,9, Isaac Plutzer 10, Michael B. Major 10, Béatrice Benoit 11, Christian Poüs 11,12, Caleb Heffner 13, Zoha Kibar 14, Gyang Markus Bot 15, Hope Northrup 16, Kit Sing Au 16, Madison Strain 17, Allison E. Ashley-Koch 17, Richard H. Finnell 18, Joan T. Le 19, Hal S. Meltzer 19, Camila Araujo 20, Helio R.Machado 20, Roger E. Stevenson 21, Anna Yurrita 22, Sara Mumtaz 23, Awais Ahmed 24, Mulazim Hussain Khara 25, Osvaldo M. Mutchinick 26, José Ramón Medina-Bereciartu 27, Friedhelm Hildebrandt 28, Gia Melikishvili 29, Ahmed I. Marwan 30, Valeria Capra 31, Mahmoud M. Noureldeen 32, Aida M. S. Salem 32, Mahmoud Y. Issa 33, Maha S. Zaki 33, Libin Xu 34, Ji Eun Lee 9, Donghyuk Shin 8, Anna Alkelai 35, Alan R. Shuldiner 35, Stephen F. Kingsmore 1, Stephen A. Murray 13, Heon Yung Gee 4,7, W. Todd Miller 36,37, Kimberley F. Tolias 6, John B. Wallingford 5, Spina Bifida Sequencing Consortium ‡, Sangwoo Kim 3,4,38,* & Joseph G. Gleeson 1,2,*
1Rady Children’s Institute for Genomic Medicine, San Diego, CA, USA.
2Department of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA, USA.
3Department of Biomedical Systems Informatics, Yonsei University College of Medicine, Seoul, Republic of Korea.
4Graduate School of Medical Science, Brain Korea 21 Project, Yonsei University College of Medicine, Seoul, Republic of Korea.
5Department of Molecular Biosciences, University of Texas at Austin, Austin, TX, USA.
6Department of Neuroscience, Biochemistry and Molecular Biology, Baylor College of Medicine, Houston, TX, USA.
7Department of Pharmacology, Yonsei University College of Medicine, Seoul, Republic of Korea.
8Department of Systems Biology, College of Life Science and Biotechnology, Yonsei University, Seoul, Republic of Korea.
9Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, Seoul, Republic of Korea.
10Department of Cell Biology and Physiology, Washington University in St Louis, St Louis, MO, USA.
11INSERM UMR-S 1193, UFR de Pharmacie, University Paris-Saclay, Orsay, France.
12Biochimie-Hormonologie, Assistance Publique - Hôpitaux de Paris Université Paris-Saclay, Clamart, France.
13The Jackson Laboratory, Bar Harbor, ME, USA.
14Department of Neurosciences, Research Center of CHU Sainte Justine, University of Montreal, Montreal, Quebec, Canada.
15Neurosurgery Division, Department of Surgery, Jos University Teaching Hospital, Jos, Nigeria.
16Department of Pediatrics, McGovern Medical School, University of Texas Health Science Center at Houston and Children’s Memorial Hermann Hospital, Houston, TX, USA.
17Molecular Physiology Institute, Duke University Medical Center, Durham, NC, USA.
18Center for Precision Environmental Health, Departments of Molecular and Human Genetics, Molecular and Cellular Biology and Medicine, Baylor College of Medicine, Houston, TX, USA.
19Rady Children’s Hospital, San Diego, CA, USA.
20Department of Surgery and Anatomy, Ribeirão Preto Medical School, University of São Paulo, Ribeirao Preto, Brazil.
21J. C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC, USA.
22Catedrática de Ciencias Ómicas, Facultad de Medicina, Universidad Francisco Marroquín, Guatemala City, Guatemala.
23National University of Medical Sciences, Rawalpindi, Pakistan.
24University of Concepcion, Concepcion, Chile.
25Children’s Hospital, Pakistan Institute of Medical Sciences, Islamabad, Pakistan.
26Department of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
27Clínica Santa Sofia, Caracas, Venezuela.
28Division of Nephrology, Boston Children’s Hospital, Boston, MA, USA.
29Department of Pediatrics, MediClubGeorgia Medical Center, Tbilisi, Georgia.
30Division of Pediatric General, Thoracic and Fetal Surgery, Department of Surgery, University of Missouri School of Medicine, Columbia, MO, USA.
31Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
32Department of Pediatrics, Faculty of Medicine, Beni-Suef University, Beni-Suef, Egypt.
33Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
34Department of Medicinal Chemistry, University of Washington, Seattle, WA, USA.
35Regeneron Genetics Center, Tarrytown, NY, USA.
36Department of Physiology and Biophysics, Stony Brook University, Stony Brook, NY, USA.
37VA Medical Center, Northport, NY, USA.
38POSTECH Biotechnology Center, Pohang University of Science and Technology, Pohang, Republic of Korea.
39Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
40Mekelle University, Mekelle, Ethiopia.
41Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA.
42NHO Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka, Japan.
43Department of Pediatrics, University Hospital Cologne, University of Cologne, Cologne, Germany.
44Department of Pediatric Neurosurgery, Stanford University, Palo Alto, CA, USA.
45Children’s Hospital of Orange County, Orange, CA, USA.
46Department of Child Health and Diseases, Department of Child Neurology, Umuttepe Campus, Kocaeli University, Kocaeli, Turkey.
47Division of Woman and Child Health, Human Development Program, The Aga Khan
University, Karachi, Pakistan.
48Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia.
‡A list of authors and their affiliations appears at the end of the paper.
*Corresponding authors: correspondence to Sangwoo Kim or Joseph G. Gleeson