The contribution of de novo coding mutations to meningomyelocele.

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Bibliographic Details
Title: The contribution of de novo coding mutations to meningomyelocele.
Authors: Ha YJ; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.; Department of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA, USA.; Department of Biomedical Systems Informatics, Yonsei University College of Medicine, Seoul, Republic of Korea.; Graduate School of Medical Science, Brain Korea 21 Project, Yonsei University College of Medicine, Seoul, Republic of Korea., Nisal A; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.; Department of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA, USA., Tang I; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.; Department of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA, USA., Lee C; Department of Molecular Biosciences, University of Texas at Austin, Austin, TX, USA., Jhamb I; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.; Department of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA, USA., Wallace C; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.; Department of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA, USA., Howarth R; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.; Department of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA, USA., Schroeder S; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.; Department of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA, USA., Vong KI; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.; Department of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA, USA., Meave N; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.; Department of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA, USA., Jiwani F; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.; Department of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA, USA., Barrows C; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.; Department of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA, USA., Lee S; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.; Department of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA, USA., Jiang N; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.; Department of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA, USA., Patel A; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.; Department of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA, USA., Bagga K; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.; Department of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA, USA., Banka N; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.; Department of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA, USA., Friedman L; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.; Department of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA, USA., Blanco FA; Department of Neuroscience, Biochemistry and Molecular Biology, Baylor College of Medicine, Houston, TX, USA., Yu S; Graduate School of Medical Science, Brain Korea 21 Project, Yonsei University College of Medicine, Seoul, Republic of Korea.; Department of Pharmacology, Yonsei University College of Medicine, Seoul, Republic of Korea., Rhee S; Department of Systems Biology, College of Life Science and Biotechnology, Yonsei University, Seoul, Republic of Korea., Jeong HS; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.; Department of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA, USA.; Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, Seoul, Republic of Korea., Plutzer I; Department of Cell Biology and Physiology, Washington University in St Louis, St Louis, MO, USA., Major MB; Department of Cell Biology and Physiology, Washington University in St Louis, St Louis, MO, USA., Benoit B; INSERM UMR-S 1193, UFR de Pharmacie, University Paris-Saclay, Orsay, France., Poüs C; INSERM UMR-S 1193, UFR de Pharmacie, University Paris-Saclay, Orsay, France.; Biochimie-Hormonologie, Assistance Publique - Hôpitaux de Paris Université Paris-Saclay, Clamart, France., Heffner C; The Jackson Laboratory, Bar Harbor, ME, USA., Kibar Z; Department of Neurosciences, Research Center of CHU Sainte Justine, University of Montreal, Montreal, Quebec, Canada., Bot GM; Neurosurgery Division, Department of Surgery, Jos University Teaching Hospital, Jos, Nigeria., Northrup H; Department of Pediatrics, McGovern Medical School, University of Texas Health Science Center at Houston and Children's Memorial Hermann Hospital, Houston, TX, USA., Au KS; Department of Pediatrics, McGovern Medical School, University of Texas Health Science Center at Houston and Children's Memorial Hermann Hospital, Houston, TX, USA., Strain M; Molecular Physiology Institute, Duke University Medical Center, Durham, NC, USA., Ashley-Koch AE; Molecular Physiology Institute, Duke University Medical Center, Durham, NC, USA., Finnell RH; Center for Precision Environmental Health, Departments of Molecular and Human Genetics, Molecular and Cellular Biology and Medicine, Baylor College of Medicine, Houston, TX, USA., Le JT; Rady Children's Hospital, San Diego, CA, USA., Meltzer HS; Rady Children's Hospital, San Diego, CA, USA., Araujo C; Department of Surgery and Anatomy, Ribeirão Preto Medical School, University of São Paulo, Ribeirao Preto, Brazil., Machado HR; Department of Surgery and Anatomy, Ribeirão Preto Medical School, University of São Paulo, Ribeirao Preto, Brazil., Stevenson RE; J. C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC, USA., Yurrita A; Catedrática de Ciencias Ómicas, Facultad de Medicina, Universidad Francisco Marroquín, Guatemala City, Guatemala., Mumtaz S; National University of Medical Sciences, Rawalpindi, Pakistan., Ahmed A; University of Concepcion, Concepcion, Chile., Khara MH; Children's Hospital, Pakistan Institute of Medical Sciences, Islamabad, Pakistan., Mutchinick OM; Department of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico., Medina-Bereciartu JR; Clínica Santa Sofia, Caracas, Venezuela., Hildebrandt F; Division of Nephrology, Boston Children's Hospital, Boston, MA, USA., Melikishvili G; Department of Pediatrics, MediClubGeorgia Medical Center, Tbilisi, Georgia., Marwan AI; Division of Pediatric General, Thoracic and Fetal Surgery, Department of Surgery, University of Missouri School of Medicine, Columbia, MO, USA., Capra V; Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Noureldeen MM; Department of Pediatrics, Faculty of Medicine, Beni-Suef University, Beni-Suef, Egypt., Salem AMS; Department of Pediatrics, Faculty of Medicine, Beni-Suef University, Beni-Suef, Egypt., Issa MY; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Xu L; Department of Medicinal Chemistry, University of Washington, Seattle, WA, USA., Lee JE; Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, Seoul, Republic of Korea., Shin D; Department of Systems Biology, College of Life Science and Biotechnology, Yonsei University, Seoul, Republic of Korea., Alkelai A; Regeneron Genetics Center, Tarrytown, NY, USA., Shuldiner AR; Regeneron Genetics Center, Tarrytown, NY, USA., Kingsmore SF; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA., Murray SA; The Jackson Laboratory, Bar Harbor, ME, USA., Gee HY; Graduate School of Medical Science, Brain Korea 21 Project, Yonsei University College of Medicine, Seoul, Republic of Korea.; Department of Pharmacology, Yonsei University College of Medicine, Seoul, Republic of Korea., Miller WT; Department of Physiology and Biophysics, Stony Brook University, Stony Brook, NY, USA.; VA Medical Center, Northport, NY, USA., Tolias KF; Department of Neuroscience, Biochemistry and Molecular Biology, Baylor College of Medicine, Houston, TX, USA., Wallingford JB; Department of Molecular Biosciences, University of Texas at Austin, Austin, TX, USA., Kim S; Department of Biomedical Systems Informatics, Yonsei University College of Medicine, Seoul, Republic of Korea. swkim@yuhs.ac.; Graduate School of Medical Science, Brain Korea 21 Project, Yonsei University College of Medicine, Seoul, Republic of Korea. swkim@yuhs.ac.; POSTECH Biotechnology Center, Pohang University of Science and Technology, Pohang, Republic of Korea. swkim@yuhs.ac., Gleeson JG; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA. jogleeson@health.ucsd.edu.; Department of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA, USA. jogleeson@health.ucsd.edu.
Corporate Authors: Spina Bifida Sequencing Consortium
Source: Nature [Nature] 2025 May; Vol. 641 (8062), pp. 419-426. Date of Electronic Publication: 2025 Mar 26.
Publication Type: Journal Article; Research Support, N.I.H., Extramural
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1476-4687
DOI:10.1038/s41586-025-08676-x