De novo variants in KDM2A cause a syndromic neurodevelopmental disorder
Year: 2025
Type: article
Language: en
Topic: Genomics and Rare Diseases
Authors and affiliations:
raw_author_name: Eric N. Anderson
raw_affiliation_strings: Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA 15224, USA
raw_author_name: Stephan Drukewitz
raw_affiliation_strings: Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany
raw_author_name: Sukhleen Kour
raw_affiliation_strings: Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA 15224, USA
raw_author_name: Anuradha V. Chimata
raw_affiliation_strings: Department of Biology, University of Dayton, Dayton, OH, USA
raw_author_name: Deepa S. Rajan
raw_affiliation_strings: Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA 15224, USA
raw_author_name: Senta Schönnagel
raw_affiliation_strings: Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany
raw_author_name: Karen L. Stals
raw_affiliation_strings: Royal Devon & Exeter NHS Foundation Trust, Exeter Genomics Laboratory, Exeter EX2 5DW, UK
raw_author_name: Deirdre Donnelly
raw_affiliation_strings: Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust/City Hospital, Belfast, Northern Ireland BT9 7AB, UK
raw_author_name: Siobhan O'Sullivan
raw_affiliation_strings: Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust/City Hospital, Belfast, Northern Ireland BT9 7AB, UK
raw_author_name: John F. Mantovani
raw_affiliation_strings: Division of Child Neurology, Washington University School of Medicine, Mercy Kids Center for Neurodevelopment & Autism, St. Louis, MO 63110, USA
raw_author_name: Tiong Y. Tan
raw_affiliation_strings: Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia
raw_author_name: Zornitza Stark
raw_affiliation_strings: Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia
raw_author_name: Pia Zacher
raw_affiliation_strings: Epilepsy Center Kleinwachau, 01454 Radeberg, Germany
raw_author_name: Nicolas Chatron
raw_affiliation_strings: Department of Medical Genetics, University Hospital of Lyon, 69007 Lyon, France
raw_author_name: Pauline Monin
raw_affiliation_strings: Department of Medical Genetics, University Hospital of Lyon, 69007 Lyon, France
raw_author_name: Severine Drunat
raw_affiliation_strings: Department of Genetics, APHP-Robert DEBRE University Hospital, Sorbonne Paris-Cité University, and INSERM UMR, 1141 Paris, France
raw_author_name: Yoann Vial
raw_affiliation_strings: Department of Genetics, APHP-Robert DEBRE University Hospital, Sorbonne Paris-Cité University, and INSERM UMR, 1141 Paris, France
raw_author_name: Xenia Latypova
raw_affiliation_strings: Department of Genetics, APHP-Robert DEBRE University Hospital, Sorbonne Paris-Cité University, and INSERM UMR, 1141 Paris, France
raw_author_name: Jonathan Levy
raw_affiliation_strings: Department of Genetics, APHP-Robert DEBRE University Hospital, Sorbonne Paris-Cité University, and INSERM UMR, 1141 Paris, France
raw_author_name: Alain Verloes
raw_affiliation_strings: Department of Genetics, APHP-Robert DEBRE University Hospital, Sorbonne Paris-Cité University, and INSERM UMR, 1141 Paris, France
raw_author_name: Jennefer N. Carter
raw_affiliation_strings: Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA 94305, USA; Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA
raw_author_name: Devon E. Bonner
raw_affiliation_strings: Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA 94305, USA; Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA
raw_author_name: Suma P. Shankar
raw_affiliation_strings: Departments of Pediatrics & Ophthalmology, Genomic Medicine, University of California, Davis Health, Sacramento, CA 95817, USA
raw_author_name: Jonathan A. Bernstein
raw_affiliation_strings: Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA 94305, USA; Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA
raw_author_name: Julie S. Cohen
raw_affiliation_strings: Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
raw_author_name: Anne Comi
raw_affiliation_strings: Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
raw_author_name: Deanna Alexis Carere
raw_affiliation_strings: GeneDx, LLC, Gaithersburg, MD 20877, USA
raw_author_name: Lisa M. Dyer
raw_affiliation_strings: GeneDx, LLC, Gaithersburg, MD 20877, USA
raw_author_name: Sureni V. Mullegama
raw_affiliation_strings: GeneDx, LLC, Gaithersburg, MD 20877, USA
raw_author_name: Pedro A. Sanchez-Lara
raw_affiliation_strings: Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA
raw_author_name: Katheryn Grand
raw_affiliation_strings: Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA
raw_author_name: Hyung-Goo Kim
raw_affiliation_strings: Department of Neurosurgery, Robert Wood Johnson Medical School, Rutgers University, Piscataway, NJ 08854, USA
raw_author_name: Afif Ben-Mahmoud
raw_affiliation_strings: Neurological Disorder Research Center, Qatar Biomedical Research Institute, Qatar Foundation, Hamad Bin Khalifa University, Doha, Qatar
raw_author_name: Sidney M. Gospe
raw_affiliation_strings: Departments of Neurology and Pediatrics, University of Washington School of Medicine, Seattle, WA, USA; Department of Pediatrics, Duke University, Durham, NC, USA
raw_author_name: Rebecca S. Belles
raw_affiliation_strings: Geisinger Health System, Danville, PA 17821, USA
raw_author_name: Gary Bellus
raw_affiliation_strings: Geisinger Health System, Danville, PA 17821, USA
raw_author_name: Klaske D. Lichtenbelt
raw_affiliation_strings: Department of Genetics, Utrecht University Medical Center, 3584 EA Utrecht, the Netherlands
raw_author_name: Renske Oegema
raw_affiliation_strings: Department of Genetics, Utrecht University Medical Center, 3584 EA Utrecht, the Netherlands
raw_author_name: Anita Rauch
raw_affiliation_strings: Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Zurich, Switzerland
raw_author_name: Ivan Ivanovski
raw_affiliation_strings: Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Zurich, Switzerland
raw_author_name: Frederic Tran Mau-Them
raw_affiliation_strings: Laboratoire de Génomique Médicale - Centre NEOMICS, CHU Dijon Bourgogne, 21000 Dijon, France; INSERM - Université de Bourgogne - UMR1231 GAD, 21000 Dijon, France
raw_author_name: Aurore Garde
raw_affiliation_strings: Laboratoire de Génomique Médicale - Centre NEOMICS, CHU Dijon Bourgogne, 21000 Dijon, France
raw_author_name: Rachel Rabin
raw_affiliation_strings: Clinical Genetic Services, Department of Pediatrics, NYU School of Medicine, New York, NY 10016, USA
raw_author_name: John Pappas
raw_affiliation_strings: Clinical Genetic Services, Department of Pediatrics, NYU School of Medicine, New York, NY 10016, USA
raw_author_name: Annette E. Bley
raw_affiliation_strings: Leukodystrophy Clinic, University Children's Hospital, University Medical Center, 20246 Hamburg, Germany
raw_author_name: Janna Bredow
raw_affiliation_strings: Leukodystrophy Clinic, University Children's Hospital, University Medical Center, 20246 Hamburg, Germany
raw_author_name: Timo Wagner
raw_affiliation_strings: Medizinische Genetik Mainz, Limbach Genetics GmbH, Mainz, Germany
raw_author_name: Eva Decker
raw_affiliation_strings: Medizinische Genetik Mainz, Limbach Genetics GmbH, Mainz, Germany
raw_author_name: Carsten Bergmann
raw_affiliation_strings: Medizinische Genetik Mainz, Limbach Genetics GmbH, Mainz, Germany
raw_author_name: Louis Domenach
raw_affiliation_strings: Department of Medical Genetics, MRGM INSERM U1211, Bordeaux University Hospital, University of Bordeaux, Bordeaux, France
raw_author_name: Henri Margot
raw_affiliation_strings: Department of Medical Genetics, MRGM INSERM U1211, Bordeaux University Hospital, University of Bordeaux, Bordeaux, France
raw_author_name: Johannes R. Lemke
raw_affiliation_strings: Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany; Center for Rare Diseases, University of Leipzig Medical Center, 04103 Leipzig, Germany
raw_author_name: Rami Abou Jamra
raw_affiliation_strings: Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany
raw_author_name: Julia Hentschel
raw_affiliation_strings: Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany
raw_author_name: Heather Mefford
raw_affiliation_strings: Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN 38105, USA
raw_author_name: Amit Singh
raw_affiliation_strings: Department of Biology, University of Dayton, Dayton, OH, USA
raw_author_name: Udai Bhan Pandey
raw_affiliation_strings: Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA 15224, USA; Children's Neuroscience Institute, Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA. Electronic address: udai@pitt.edu
raw_author_name: Konrad Platzer
raw_affiliation_strings: Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany. Electronic address: konrad.platzer@medizin.uni-leipzig.de