ArticleNature2025
The contribution of de novo coding mutations to meningomyelocele.
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Article in Nature, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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5citing papers in PubMed
–field-weighted citation impact
What it found
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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.
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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.
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Who cites it
5 citing papers in PubMed.
- hiPSC-derived Organoids and Organ-on-chip Systems: New Frontiers in Neural Tube Defect Research.Stem cell reviews and reports · 2026Review
- Arrayed single-gene perturbations identify drivers of human anterior neural tube closure.eLife · 2026Article
- Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases.Prenatal diagnosis · 2026Article
- Evolving Practices in Prenatal Open Spinal Dysraphism: A Global Survey of Selection Criteria, Surgical Techniques, and Diagnostic Trends.Prenatal diagnosis · 2026Article
- The Neural Tube CURE: Engaging undergraduate students in a relevant developmental biology research course.Developmental biology · 2025Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
67 authors.
Yoo-Jin Jiny HaRady Children's Institute for Genomic Medicine, San Diego, CA, USA.ORCID 0000-0003-1667-8054
Ashna NisalRady Children's Institute for Genomic Medicine, San Diego, CA, USA.ORCID 0009-0000-4384-1027
Isaac TangRady Children's Institute for Genomic Medicine, San Diego, CA, USA.
Chanjae LeeDepartment of Molecular Biosciences, University of Texas at Austin, Austin, TX, USA.
Ishani JhambRady Children's Institute for Genomic Medicine, San Diego, CA, USA.
Cassidy WallaceRady Children's Institute for Genomic Medicine, San Diego, CA, USA.
Robyn HowarthRady Children's Institute for Genomic Medicine, San Diego, CA, USA.
Sarah SchroederRady Children's Institute for Genomic Medicine, San Diego, CA, USA.
Keng Ioi VongRady Children's Institute for Genomic Medicine, San Diego, CA, USA.ORCID 0000-0001-5377-9845
Naomi MeaveRady Children's Institute for Genomic Medicine, San Diego, CA, USA.
Fiza JiwaniRady Children's Institute for Genomic Medicine, San Diego, CA, USA.
Chelsea BarrowsRady Children's Institute for Genomic Medicine, San Diego, CA, USA.ORCID 0009-0007-8106-9446
Sangmoon LeeRady Children's Institute for Genomic Medicine, San Diego, CA, USA.
Nan JiangRady Children's Institute for Genomic Medicine, San Diego, CA, USA.
Arzoo PatelRady Children's Institute for Genomic Medicine, San Diego, CA, USA.ORCID 0009-0007-9033-5785
Krisha BaggaRady Children's Institute for Genomic Medicine, San Diego, CA, USA.
Niyati BankaRady Children's Institute for Genomic Medicine, San Diego, CA, USA.
Liana FriedmanRady Children's Institute for Genomic Medicine, San Diego, CA, USA.
Francisco A BlancoDepartment of Neuroscience, Biochemistry and Molecular Biology, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0002-1228-8625
Seyoung YuGraduate School of Medical Science, Brain Korea 21 Project, Yonsei University College of Medicine, Seoul, Republic of Korea.
Soeun RheeDepartment of Systems Biology, College of Life Science and Biotechnology, Yonsei University, Seoul, Republic of Korea.
Hui Su JeongRady Children's Institute for Genomic Medicine, San Diego, CA, USA.ORCID 0000-0001-8419-4698
Isaac PlutzerDepartment of Cell Biology and Physiology, Washington University in St Louis, St Louis, MO, USA.ORCID 0000-0002-9370-7763
Michael B MajorDepartment of Cell Biology and Physiology, Washington University in St Louis, St Louis, MO, USA.ORCID 0000-0002-6753-8513
Béatrice BenoitINSERM UMR-S 1193, UFR de Pharmacie, University Paris-Saclay, Orsay, France.ORCID 0000-0003-2622-7791
Christian PoüsINSERM UMR-S 1193, UFR de Pharmacie, University Paris-Saclay, Orsay, France.ORCID 0000-0002-2502-7854
Caleb HeffnerThe Jackson Laboratory, Bar Harbor, ME, USA.
Zoha KibarDepartment of Neurosciences, Research Center of CHU Sainte Justine, University of Montreal, Montreal, Quebec, Canada.
Gyang Markus BotNeurosurgery Division, Department of Surgery, Jos University Teaching Hospital, Jos, Nigeria.
Hope NorthrupDepartment of Pediatrics, McGovern Medical School, University of Texas Health Science Center at Houston and Children's Memorial Hermann Hospital, Houston, TX, USA.ORCID 0000-0002-2892-0840
Kit Sing AuDepartment of Pediatrics, McGovern Medical School, University of Texas Health Science Center at Houston and Children's Memorial Hermann Hospital, Houston, TX, USA.ORCID 0000-0002-2694-5833
Madison StrainMolecular Physiology Institute, Duke University Medical Center, Durham, NC, USA.
Allison E Ashley-KochMolecular Physiology Institute, Duke University Medical Center, Durham, NC, USA.ORCID 0000-0001-5409-9155
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, USA.ORCID 0000-0002-5962-8754
Joan T LeRady Children's Hospital, San Diego, CA, USA.
Hal S MeltzerRady Children's Hospital, San Diego, CA, USA.
Camila AraujoDepartment of Surgery and Anatomy, Ribeirão Preto Medical School, University of São Paulo, Ribeirao Preto, Brazil.
Helio R MachadoDepartment of Surgery and Anatomy, Ribeirão Preto Medical School, University of São Paulo, Ribeirao Preto, Brazil.
Roger E StevensonJ. C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC, USA.ORCID 0000-0002-1806-6345
Anna YurritaCatedrática de Ciencias Ómicas, Facultad de Medicina, Universidad Francisco Marroquín, Guatemala City, Guatemala.
Sara MumtazNational University of Medical Sciences, Rawalpindi, Pakistan.
Awais AhmedUniversity of Concepcion, Concepcion, Chile.
Mulazim Hussain KharaChildren's Hospital, Pakistan Institute of Medical Sciences, Islamabad, Pakistan.
Osvaldo M MutchinickDepartment of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
José Ramón Medina-BereciartuClínica Santa Sofia, Caracas, Venezuela.
Friedhelm HildebrandtDivision of Nephrology, Boston Children's Hospital, Boston, MA, USA.ORCID 0000-0002-7130-0030
Gia MelikishviliDepartment of Pediatrics, MediClubGeorgia Medical Center, Tbilisi, Georgia.
Ahmed I MarwanDivision of Pediatric General, Thoracic and Fetal Surgery, Department of Surgery, University of Missouri School of Medicine, Columbia, MO, USA.
Valeria CapraGenomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.ORCID 0000-0002-3097-0388
Mahmoud M NoureldeenDepartment of Pediatrics, Faculty of Medicine, Beni-Suef University, Beni-Suef, Egypt.
Aida M S SalemDepartment of Pediatrics, Faculty of Medicine, Beni-Suef University, Beni-Suef, Egypt.
Mahmoud Y IssaClinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.ORCID 0000-0002-3899-2821
Maha S ZakiClinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.ORCID 0000-0001-7840-0002
Libin XuDepartment of Medicinal Chemistry, University of Washington, Seattle, WA, USA.ORCID 0000-0003-1021-5200
Ji Eun LeeDepartment of Health Sciences and Technology, SAIHST, Sungkyunkwan University, Seoul, Republic of Korea.
Donghyuk ShinDepartment of Systems Biology, College of Life Science and Biotechnology, Yonsei University, Seoul, Republic of Korea.ORCID 0000-0002-8272-6133
Anna AlkelaiRegeneron Genetics Center, Tarrytown, NY, USA.
Alan R ShuldinerRegeneron Genetics Center, Tarrytown, NY, USA.ORCID 0000-0001-9921-4305
Stephen F KingsmoreRady Children's Institute for Genomic Medicine, San Diego, CA, USA.
Stephen A MurrayThe Jackson Laboratory, Bar Harbor, ME, USA.ORCID 0000-0002-0594-1702
Heon Yung GeeGraduate School of Medical Science, Brain Korea 21 Project, Yonsei University College of Medicine, Seoul, Republic of Korea.ORCID 0000-0002-8741-6177
W Todd MillerDepartment of Physiology and Biophysics, Stony Brook University, Stony Brook, NY, USA.
Kimberley F ToliasDepartment of Neuroscience, Biochemistry and Molecular Biology, Baylor College of Medicine, Houston, TX, USA.
John B WallingfordDepartment of Molecular Biosciences, University of Texas at Austin, Austin, TX, USA.
Spina Bifida Sequencing Consortium
Sangwoo KimDepartment of Biomedical Systems Informatics, Yonsei University College of Medicine, Seoul, Republic of Korea. swkim@yuhs.ac.ORCID 0000-0001-5356-0827
Joseph G GleesonRady Children's Institute for Genomic Medicine, San Diego, CA, USA. jogleeson@health.ucsd.edu.ORCID 0000-0002-0889-9220
Funding
The Jackson Laboratory Center for Precision GeneticsU54OD030187 · OD · JACKSON LABORATORY · PI Cathleen M Lutz, Stephen A Murray · 2020 to 2026
$17.2MProject 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
$7.0MSignaling Mechanisms Regulating Rho GTPase-Dependent Synaptic Plasticity Underlying Memory in Health and DiseaseR01NS062829 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI TOLIAS, KIMBERLY R · 2009 to 2025
$4.4MGenetics and Genomics Training GrantT32GM136627 · NIGMS · DUKE UNIVERSITY · PI ALLISON E ASHLEY-KOCH · 2020 to 2026
$3.1MUnderstanding Genetic Complexity in Spina BifidaR01HD111089 · NICHD · WEILL MEDICAL COLL OF CORNELL UNIV · PI RICHARD H. FINNELL, MARGARET ELIZABETH ROSS · 2023 to 2026
$2.8MMolecular and cell biological basis of convergent extensionR01HD099191 · NICHD · UNIVERSITY OF TEXAS AT AUSTIN · PI John B Wallingford · 2020 to 2026
$2.7MSignaling Mechanisms Regulating Rho GTPase-Dependent Synaptic Plasticity Underlying Memory in Health and DiseaseRF1NS062829 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI TOLIAS, KIMBERLY R · 2022 to 2022
$1.9MBLRD VA I01 BX006248NHLBI NIH HHS HHSN268201700006CNICHD NIH HHS P01 HD104436NICHD NIH HHS R01 HD099191NICHD NIH HHS R01 HD111089NIGMS NIH HHS T32 GM136627NIH HHS U54 OD030187NINDS NIH HHS R01 NS062829NINDS NIH HHS RF1 NS062829
Abstract
Meningomyelocele (also known as spina bifida) is considered to be a genetically complex disease resulting from a failure of the neural tube to close. Individuals with meningomyelocele display neuromotor disability and frequent hydrocephalus, requiring ventricular shunting. A few genes have been proposed to contribute to disease susceptibility, but beyond that it remains unexplained
Indexed as
Genetic Predisposition to DiseaseMeningomyeloceleMutationAnimalsCohort StudiesFemaleHumansMaleMicrotubulesMutation, MissenseNetrin-1Signal TransductionXenopus laevisNetrin-1
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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.