Keng Ioi Vong ^{† 1 2}, Sangmoon Lee ^{† 1 2}, Kit Sing Au ³, T Blaine Crowley ⁴, Valeria Capra ⁵, Jeremiah Martino ⁶, Meade Haller ⁷, Camila Araújo ⁸, Hélio R Machado ⁸, Renee George ^{1 2}, Bryn Gerding ^{1 2}, Kiely N James ^{1 2}, Valentina Stanley ^{1 2}, Nan Jiang ^{1 2}, Kameron Alu ^{1 2}, Naomi Meave ^{1 2}, Anna S Nidhiry ², Fiza Jiwani ^{1 2}, Isaac Tang ^{1 2}, Ashna Nisal ^{1 2}, Ishani Jhamb ^{1 2}, Arzoo Patel ^{1 2}, Aakash Patel ^{1 2}, Jennifer McEvoy-Venneri ^{1 2}, Chelsea Barrows ^{1 2}, Celina Shen ^{1 2}, Yoo-Jin Ha ^{1 2}, Robyn Howarth ^{1 2}, Madison Strain ⁹, Allison Elizabeth Ashley-Koch ⁹, Matloob Azam ¹⁰, Sara Mumtaz ¹¹, Gyang Markus Bot ¹², Richard H Finnell ¹³, Zoha Kibar ¹⁴, Ahmed I Marwan ¹⁵, Gia Melikishvili ¹⁶, Hal S Meltzer ¹⁷, Osvaldo M Mutchinick ¹⁸, David A Stevenson ¹⁹, Henry J Mroczkowski ²⁰, Betsy Ostrander ²¹, Erica Schindewolf ²², Julie Moldenhauer ²², Elaine H Zackai ⁴, Beverly S Emanuel ⁴, Sixto Garcia-Minaur ²³, Beata A Nowakowska ²⁴, Roger E Stevenson ²⁵, Maha S Zaki ²⁶, Hope Northrup ³, Hanna K McNamara ²⁷, Kimberly A Aldinger ^{27 28 29}, Ian G Phelps ²⁸, Mei Deng ²⁸, Ian A Glass ²⁸; Spina Bifida Sequencing Consortium ^‡, Bernice Morrow ³⁰, Donna M McDonald-McGinn ^{4 31}, Simone Sanna-Cherchi ⁶, Dolores J Lamb ^{7 32}, Joseph G Gleeson ^{1 2 *}

¹Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.

²Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.

³Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth) and Children's Memorial Hermann Hospital, Houston, TX 77030, USA.

⁴22q and You Center, Division of Human Genetics, Children's Hospital of Philadelphia and Department of Pediatrics, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA 19104, USA.

⁵Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.

⁶Division of Nephrology, Department of Medicine, Columbia University, NY 10027, USA.

⁷Center for Reproductive Medicine, Department of Molecular and Cellular Biology and Scott Department of Urology, Baylor College of Medicine, TX 77030, USA.

⁸Department of Surgery and Anatomy, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto 14040-900, Brazil.

⁹Duke Molecular Physiology Institute, Duke University Medical Center, Durham, NC 27710, USA.

¹⁰Pediatrics and Child Neurology, Wah Medical College, Wah Cantt, Punjab 47000, Pakistan.

¹¹Department of Biological Sciences, National University of Medical Sciences (NUMS), Punjab 46000, Pakistan.

¹²Neurosurgery Division, Department of Surgery, Jos University Teaching Hospital, Jos 930105, Nigeria.

¹³Center for Precision Environmental Health, Departments of Molecular and Human Genetics, Molecular and Cellular Biology and Medicine, Baylor College of Medicine, Houston, TX 77030, USA.

¹⁴Department of Neurosciences, University of Montreal and CHU Sainte Justine Research Center, Montreal, QC H3T 1C5, Canada.

¹⁵Division of Pediatric Surgery, University of Colorado School of Medicine, Children's Hospital of Colorado, Colorado Fetal Care Center, Aurora, CO 80045, USA.

¹⁶Department of Pediatrics, MediClubGeorgia Medical Center, Tbilisi 0160, Georgia.

¹⁷Department of Neurosurgery, University of California San Diego, Rady Children's Hospital, San Diego, CA 92123, USA.

¹⁸Department of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, 14080 Mexico City, Mexico.

¹⁹Division of Medical Genetics, Stanford University, Palo Alto, CA 94305, USA.

²⁰Division of Medical Genetics, University of Tennessee Health Science Campus, Memphis, TN 38163, USA.

²¹Division of Pediatric Neurology, Primary Children's Hospital, University of Utah, Salt Lake City, UT 84113, USA.

²²Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

²³Clinical Genetics Section, Institute of Medical and Molecular Genetics, University Hospital La Paz, 28046 Madrid, Spain.

²⁴Department of Medical Genetics, Institute of Mother and Child, Kasprzaka, 01-211 Warsaw, Poland.

²⁵JC Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC 29646, USA.

²⁶Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt.

²⁷Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.

²⁸Departments of Pediatrics, University of Washington, Seattle, WA 98105, USA.

²⁹Department of Neurology, University of Washington, Seattle, WA 98105, USA.

³⁰Division of Translational Genetics, Department of Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA.

³¹Department of Human Biology and Medical Genetics, Sapienza University, 00185-Rome RM, Italy.

³²Department of Urology, Center for Reproductive Genomics, Englander Institute for Precision Medicine, Weill Cornell Medicine, New York, NY 10021, USA.

^†These authors contributed equally
^‡Spina Bifida Sequencing Consortium collaborators and affiliations are listed at the end of this paper
^*Corresponding author: correspondence to Joseph G Gleeson