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Risk of meningomyelocele mediated by the common 22q11.2 deletion.

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Title: Risk of meningomyelocele mediated by the common 22q11.2 deletion.
Authors: Vong KI; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., Lee S; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., Au KS; Department 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., Crowley TB; 22q 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., Capra V; Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy., Martino J; Division of Nephrology, Department of Medicine, Columbia University, NY 10027, USA., Haller M; Center for Reproductive Medicine, Department of Molecular and Cellular Biology and Scott Department of Urology, Baylor College of Medicine, TX 77030, USA., Araújo C; Department of Surgery and Anatomy, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto 14040-900, Brazil., Machado HR; Department of Surgery and Anatomy, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto 14040-900, Brazil., George R; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., Gerding B; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., James KN; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., Stanley V; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., Jiang N; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., Alu K; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., Meave N; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., Nidhiry AS; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., Jiwani F; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., Tang I; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., Nisal A; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., Jhamb I; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., Patel A; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., Patel A; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., McEvoy-Venneri J; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., Barrows C; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., Shen C; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., Ha YJ; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., Howarth R; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., Strain M; Duke Molecular Physiology Institute, Duke University Medical Center, Durham, NC 27710, USA., Ashley-Koch AE; Duke Molecular Physiology Institute, Duke University Medical Center, Durham, NC 27710, USA., Azam M; Pediatrics and Child Neurology, Wah Medical College, Wah Cantt, Punjab 47000, Pakistan., Mumtaz S; Department of Biological Sciences, National University of Medical Sciences (NUMS), Punjab 46000, Pakistan., Bot GM; Neurosurgery Division, Department of Surgery, Jos University Teaching Hospital, Jos 930105, Nigeria., 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 77030, USA., Kibar Z; Department of Neurosciences, University of Montreal and CHU Sainte Justine Research Center, Montreal, QC H3T 1C5, Canada., Marwan AI; Division of Pediatric Surgery, University of Colorado School of Medicine, Children's Hospital of Colorado, Colorado Fetal Care Center, Aurora, CO 80045, USA., Melikishvili G; Department of Pediatrics, MediClubGeorgia Medical Center, Tbilisi 0160, Georgia., Meltzer HS; Department of Neurosurgery, University of California San Diego, Rady Children's Hospital, San Diego, CA 92123, USA., Mutchinick OM; Department of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, 14080 Mexico City, Mexico., Stevenson DA; Division of Medical Genetics, Stanford University, Palo Alto, CA 94305, USA., Mroczkowski HJ; Division of Medical Genetics, University of Tennessee Health Science Campus, Memphis, TN 38163, USA., Ostrander B; Division of Pediatric Neurology, Primary Children's Hospital, University of Utah, Salt Lake City, UT 84113, USA., Schindewolf E; Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Moldenhauer J; Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Zackai EH; 22q 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., Emanuel BS; 22q 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., Garcia-Minaur S; Clinical Genetics Section, Institute of Medical and Molecular Genetics, University Hospital La Paz, 28046 Madrid, Spain., Nowakowska BA; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka, 01-211 Warsaw, Poland., Stevenson RE; JC Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC 29646, USA., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt., Northrup H; Department 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., McNamara HK; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA., Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.; Departments of Pediatrics, University of Washington, Seattle, WA 98105, USA.; Department of Neurology, University of Washington, Seattle, WA 98105, USA., Phelps IG; Departments of Pediatrics, University of Washington, Seattle, WA 98105, USA., Deng M; Departments of Pediatrics, University of Washington, Seattle, WA 98105, USA., Glass IA; Departments of Pediatrics, University of Washington, Seattle, WA 98105, USA., Morrow B; Division of Translational Genetics, Department of Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA., McDonald-McGinn DM; 22q 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.; Department of Human Biology and Medical Genetics, Sapienza University, 00185-Rome RM, Italy., Sanna-Cherchi S; Division of Nephrology, Department of Medicine, Columbia University, NY 10027, USA., Lamb DJ; Center for Reproductive Medicine, Department of Molecular and Cellular Biology and Scott Department of Urology, Baylor College of Medicine, TX 77030, USA.; Department of Urology, Center for Reproductive Genomics, Englander Institute for Precision Medicine, Weill Cornell Medicine, New York, NY 10021, USA., Gleeson JG; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.
Corporate Authors: Spina Bifida Sequencing Consortium‡
Source: Science (New York, N.Y.) [Science] 2024 May 03; Vol. 384 (6695), pp. 584-590. Date of Electronic Publication: 2024 May 02.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
Journal Info: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-9203 (Electronic) Linking ISSN: 00368075 NLM ISO Abbreviation: Science Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:1095-9203
DOI:10.1126/science.adl1624