ArticleScience (New York, N.Y.)2024
Risk of meningomyelocele mediated by the common 22q11.2 deletion.
Abstract read
In one paragraph
Article in Science (New York, N.Y.), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
–field-weighted citation impact
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
11 citing papers in PubMed.
- Whole exome sequencing uncovers novel genetic insights into Tethered cord syndrome.Molecular genetics and genomics : MGG · 2026Article
- Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases.Prenatal diagnosis · 2026Article
- Is Male Infertility an Early Warning of More Serious Diseases?Endocrinology · 2026Review
- Whole exome sequencing analysis of suicidal thoughts and behaviors in a veteran cohort implicates inflammatory pathways and genes previously associated with psychiatric and neurodegenerative diseases.Journal of affective disorders · 2026Article
- Decoding structural birth defects through genomic landscapes: Innovative frameworks for diagnosis (Review).International journal of molecular medicine · 2026Review
- Spina Bifida Incidence Trends: A Comparative Study of Puerto Rico and the United States.Epidemiologia (Basel, Switzerland) · 2025Article
- Long-term cognitive outcomes of Chiari II malformation and corpus callosum abnormalities in myelomeningocele.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2025Review
- Chromosome defects and male factor infertility.Fertility and sterility · 2025Review
- The power of mouse models in the diagnostic odyssey of patients with rare congenital anomalies.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Review
- Early spinal cord development: from neural tube formation to neurogenesis.Nature reviews. Neuroscience · 2025Review
- The global, regional, and national patterns of change in the burden of congenital birth defects, 1990-2021: an analysis of the global burden of disease study 2021 and forecast to 2040.EClinicalMedicine · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
62 authors.
Keng Ioi Vong *Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.ORCID 0000-0001-5377-9845
Sangmoon Lee *Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.ORCID 0000-0002-7723-5946
Kit Sing AuDepartment 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.ORCID 0000-0002-2694-5833
T Blaine Crowley22q 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.ORCID 0000-0002-3272-5458
Valeria CapraGenomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.ORCID 0000-0002-3097-0388
Jeremiah MartinoDivision of Nephrology, Department of Medicine, Columbia University, NY 10027, USA.ORCID 0000-0001-8398-2801
Meade HallerCenter for Reproductive Medicine, Department of Molecular and Cellular Biology and Scott Department of Urology, Baylor College of Medicine, TX 77030, USA.ORCID 0000-0001-6083-7660
Camila AraújoDepartment of Surgery and Anatomy, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto 14040-900, Brazil.
Hélio R MachadoDepartment of Surgery and Anatomy, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto 14040-900, Brazil.
Renee GeorgeDepartment of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.ORCID 0000-0003-0733-9691
Bryn GerdingDepartment of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.ORCID 0009-0007-4141-1665
Kiely N JamesDepartment of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.ORCID 0000-0001-8409-4363
Valentina StanleyDepartment of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.ORCID 0000-0002-2212-7796
Nan JiangDepartment of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.
Kameron AluDepartment of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.
Naomi MeaveDepartment of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.
Anna S NidhiryRady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.ORCID 0000-0001-7119-0153
Fiza JiwaniDepartment of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.ORCID 0009-0006-2342-481X
Isaac TangDepartment of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.
Ashna NisalDepartment of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.ORCID 0009-0000-4384-1027
Ishani JhambDepartment of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.
Arzoo PatelDepartment of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.ORCID 0009-0007-9033-5785
Aakash PatelDepartment of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.ORCID 0009-0000-3633-0798
Jennifer McEvoy-VenneriDepartment of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.
Chelsea BarrowsDepartment of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.ORCID 0009-0007-8106-9446
Celina ShenDepartment of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.
Yoo-Jin HaDepartment of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.ORCID 0000-0003-1667-8054
Robyn HowarthDepartment of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.
Madison StrainDuke Molecular Physiology Institute, Duke University Medical Center, Durham, NC 27710, USA.ORCID 0000-0002-4092-0958
Allison Elizabeth Ashley-KochDuke Molecular Physiology Institute, Duke University Medical Center, Durham, NC 27710, USA.ORCID 0000-0001-5409-9155
Matloob AzamPediatrics and Child Neurology, Wah Medical College, Wah Cantt, Punjab 47000, Pakistan.ORCID 0009-0000-2847-7909
Sara MumtazDepartment of Biological Sciences, National University of Medical Sciences (NUMS), Punjab 46000, Pakistan.ORCID 0000-0003-0503-1060
Gyang Markus BotNeurosurgery Division, Department of Surgery, Jos University Teaching Hospital, Jos 930105, Nigeria.ORCID 0000-0002-2897-5470
Richard H FinnellCenter for Precision Environmental Health, Departments of Molecular and Human Genetics, Molecular and Cellular Biology and Medicine, Baylor College of Medicine, Houston, TX 77030, USA.
Zoha KibarDepartment of Neurosciences, University of Montreal and CHU Sainte Justine Research Center, Montreal, QC H3T 1C5, Canada.
Ahmed I MarwanDivision of Pediatric Surgery, University of Colorado School of Medicine, Children's Hospital of Colorado, Colorado Fetal Care Center, Aurora, CO 80045, USA.ORCID 0000-0002-2194-791X
Gia MelikishviliDepartment of Pediatrics, MediClubGeorgia Medical Center, Tbilisi 0160, Georgia.ORCID 0000-0002-5651-5981
Hal S MeltzerDepartment of Neurosurgery, University of California San Diego, Rady Children's Hospital, San Diego, CA 92123, USA.ORCID 0000-0001-5608-8900
Osvaldo M MutchinickDepartment of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, 14080 Mexico City, Mexico.
David A StevensonDivision of Medical Genetics, Stanford University, Palo Alto, CA 94305, USA.
Henry J MroczkowskiDivision of Medical Genetics, University of Tennessee Health Science Campus, Memphis, TN 38163, USA.ORCID 0000-0001-8863-7628
Betsy OstranderDivision of Pediatric Neurology, Primary Children's Hospital, University of Utah, Salt Lake City, UT 84113, USA.
Erica SchindewolfCenter for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Julie MoldenhauerCenter for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Elaine H Zackai22q 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.ORCID 0000-0002-8002-893X
Beverly S Emanuel22q 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.
Sixto Garcia-MinaurClinical Genetics Section, Institute of Medical and Molecular Genetics, University Hospital La Paz, 28046 Madrid, Spain.ORCID 0000-0003-3406-3424
Beata A NowakowskaDepartment of Medical Genetics, Institute of Mother and Child, Kasprzaka, 01-211 Warsaw, Poland.ORCID 0000-0001-9095-8906
Roger E StevensonJC Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC 29646, USA.ORCID 0000-0002-1806-6345
Maha S ZakiClinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt.ORCID 0000-0001-7840-0002
Hope NorthrupDepartment 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.ORCID 0000-0002-2892-0840
Hanna K McNamaraCenter for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.
Kimberly A AldingerCenter for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.ORCID 0000-0002-5406-8911
Ian G PhelpsDepartments of Pediatrics, University of Washington, Seattle, WA 98105, USA.
Mei DengDepartments of Pediatrics, University of Washington, Seattle, WA 98105, USA.ORCID 0000-0003-0480-5730
Ian A GlassDepartments of Pediatrics, University of Washington, Seattle, WA 98105, USA.ORCID 0000-0001-6762-8407
Spina Bifida Sequencing Consortium‡
Bernice MorrowDivision of Translational Genetics, Department of Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA.ORCID 0000-0002-8076-4726
Donna M McDonald-McGinn22q 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.ORCID 0000-0003-4077-250X
Simone Sanna-CherchiDivision of Nephrology, Department of Medicine, Columbia University, NY 10027, USA.ORCID 0000-0002-6185-948X
Dolores J LambCenter for Reproductive Medicine, Department of Molecular and Cellular Biology and Scott Department of Urology, Baylor College of Medicine, TX 77030, USA.
Joseph G GleesonDepartment of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.
Funding
LABORATORY OF DEVELOPMENTAL BIOLOGYR24HD000836 · NICHD · UNIVERSITY OF WASHINGTON · PI Ian Amos Glass · 1995 to 2026
$16.9MProject 2: Genetic Mechanisms of Non-syndromic Congenital Cardiac DefectsP01HD070454 · NICHD · ALBERT EINSTEIN COLLEGE OF MEDICINE, INC · PI MORROW, BERNICE E · 2011 to 2020
$14.0MPreclinical testing of a novel non-hormonal intravaginal ring to prevent pregnancy and sexually transmitted infectionsP50HD106793 · NICHD · POPULATION COUNCIL · PI HADDAD, LISA BLAKE · 2021 to 2025
$11.1MU of Calif, San Diego Neuroscience Microscopy ImagingP30NS047101 · NINDS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI GLEESON, JOSEPH G, ZHENG, BINHAI · 2003 to 2022
$9.0MProject II - Modeling meningomyelocele in frog using human alleles and folic acid exposureP01HD104436 · NICHD · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI NISWANDER, LEE A. · 2021 to 2025
$7.0MImproving the Diagnosis of Congenital Genitourinary Defects.R01DK078121 · NIDDK · WEILL MEDICAL COLL OF CORNELL UNIV · PI LAMB, DOLORES JEAN · 2007 to 2021
$4.8MGenetics and Genomics Training GrantT32GM136627 · NIGMS · DUKE UNIVERSITY · PI ALLISON E ASHLEY-KOCH · 2020 to 2026
$3.1MMolecular Dissection of the 22q11.2 Deletion SyndromeR01GM125757 · NIGMS · CHILDREN'S HOSP OF PHILADELPHIA · PI EMANUEL, BEVERLY S · 2018 to 2024
$3.1MGenetic modifiers of congenital heart disease in 22q11.2 deletion syndromeR01HL157157 · NHLBI · ALBERT EINSTEIN COLLEGE OF MEDICINE · PI MORROW, BERNICE E · 2022 to 2025
$3.1MGenomics of mammalian posterior urethral valvesR01DK115574 · NIDDK · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI SANNA-CHERCHI, SIMONE · 2017 to 2021
$2.9M2/9: Dissecting the effects of genomic variants on neurobehavioral dimensions in CNVs enriched for neuropsychiatric disorders.U01MH119737 · NIMH · CHILDREN'S HOSP OF PHILADELPHIA · PI MCDONALD-MCGINN, DONNA MARIE · 2019 to 2023
$2.4MGenetics of Congenital Obstructive UropathyR01DK103184 · NIDDK · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI SANNA-CHERCHI, SIMONE · 2014 to 2018
$2.3MNHLBI NIH HHS HHSN268201700006CNHLBI NIH HHS R01 HL157157NICHD NIH HHS P01 HD070454NICHD NIH HHS P01 HD104436NICHD NIH HHS P50 HD106793NICHD NIH HHS R24 HD000836NIDDK NIH HHS F32 DK121454NIDDK NIH HHS P20 DK116191NIDDK NIH HHS R01 DK078121NIDDK NIH HHS R01 DK103184NIDDK NIH HHS R01 DK115574NIDDK NIH HHS T32 DK007763NIGMS NIH HHS R01 GM125757NIGMS NIH HHS T32 GM136627NIH HHS S10 OD032447NIMH NIH HHS U01 MH119737NINDS NIH HHS P30 NS047101
Abstract
Meningomyelocele is one of the most severe forms of neural tube defects (NTDs) and the most frequent structural birth defect of the central nervous system. We assembled the Spina Bifida Sequencing Consortium to identify causes. Exome and genome sequencing of 715 parent-offspring trios identified six patients with chromosomal 22q11.2 deletions, suggesting a 23-fold increased risk compared with the general population. Furthermore, analysis of a separate 22q11.2 deletion cohort suggested a 12- to 15-fold increased NTD risk of meningomyelocele. The loss of
Indexed as
Chromosome DeletionChromosomes, Human, Pair 22MeningomyeloceleAdaptor Proteins, Signal TransducingAnimalsDiGeorge SyndromeExome SequencingFemaleFolic AcidFolic Acid DeficiencyHumansMaleMicePenetranceRiskSpinal DysraphismAdaptor Proteins, Signal TransducingCRKL proteinFolic Acid
Identifiers
What Socratic holds
Textmetadata
LicenceTDM
Read underepoch 390
Registered trials
None linked
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.