OSCR

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

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StephanHolgerD/methylmappdedupmethyldackelsnakemake

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Overview

Authors: Eric N. Anderson, Stephan Drukewitz, Sukhleen Kour, Anuradha V. Chimata, Deepa S. Rajan, Senta Schönnagel, Karen L. Stals, Deirdre Donnelly, Siobhan O'Sullivan, John F. Mantovani, Tiong Y. Tan, Zornitza Stark, Pia Zacher, Nicolas Chatron, Pauline Monin, Severine Drunat, Yoann Vial, Xenia Latypova, Jonathan Levy, Alain Verloes
and 39 other authorsJennefer N. Carter, Devon E. Bonner, Suma P. Shankar, Jonathan A. Bernstein, Julie S. Cohen, Anne Comi, Deanna Alexis Carere, Lisa M. Dyer, Sureni V. Mullegama, Pedro A. Sanchez-Lara, Katheryn Grand, Hyung-Goo Kim, Afif Ben-Mahmoud, Sidney M. Gospe Jr., Rebecca S. Belles, Gary Bellus, Klaske D. Lichtenbelt, Renske Oegema, Anita Rauch, Ivan Ivanovski, Frederic Tran Mau-Them, Aurore Garde, Rachel Rabin, John Pappas, Annette E. Bley, Janna Bredow, Timo Wagner, Eva Decker, Carsten Bergmann, Louis Domenach, Henri Margot, Undiagnosed Diseases Network, Johannes R. Lemke, Rami Abou Jamra, Julia Hentschel, Heather Mefford, Amit Singh, Udai Bhan Pandey, Konrad Platzer
Published: 29 December 2025
Type: Research article
Status: empty repository (how the code is found and verified)
License: CC BY
Institutions: Children's Hospital of Pittsburgh (United States), University of Pittsburgh Medical Center (United States), University Hospital Leipzig (Germany), Leipzig University (Germany), University of Dayton (United States), Royal Devon & Exeter NHS Foundation Trust (United Kingdom), Belfast Health and Social Care Trust (United Kingdom), Belfast City Hospital (United Kingdom), Washington University in St. Louis (United States), Sisters of Mercy Health System (United States), The University of Melbourne (Australia), Victorian Clinical Genetics Services (Australia), Murdoch Children's Research Institute (Australia), Epilepsiezentrum Kleinwachau Gemeinnützige (Germany), Hospices Civils de Lyon (France), Inserm (France), Assistance Publique – Hôpitaux de Paris (France), Hôpital Robert-Debré (France), NeuroDiderot (France), Stanford Medicine (United States), Stanford University (United States), University of California Davis Medical Center (United States), UC Davis Health (United States), University of California, Davis (United States), Kennedy Krieger Institute (United States), Johns Hopkins University (United States), Cedars-Sinai Medical Center (United States), Rutgers, The State University of New Jersey (United States), Hamad bin Khalifa University (Qatar), Qatar Foundation (Qatar), Duke University (United States), University of Washington (United States), Geisinger Health System (United States), Utrecht University (Netherlands), University Medical Center Utrecht (Netherlands), University of Zurich (Switzerland), Université de Bourgogne (France), CHU Dijon Bourgogne (France), Centre de recherche Translationnelle en Médecine moléculaire (France), NYU Langone Health (United States), New York University (United States), Universität Hamburg (Germany), University Medical Center Hamburg-Eppendorf (Germany), Université de Bordeaux (France), Centre Hospitalier Universitaire de Bordeaux (France), Maladies Rares: Génétique et Métabolisme (France), St. Jude Children's Research Hospital (United States), University of Pittsburgh (United States)

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