OSCR

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.

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Authors: Carolina Gracia-Diaz, Yijing Zhou, Qian Yang, Reza Maroofian, Paula Espana-Bonilla, Chul-Hwan Lee, Shuo Zhang, Natàlia Padilla, Raquel Fueyo, Elisa A. Waxman, Sunyimeng Lei, Garrett Otrimski, Dong Li, Sarah E. Sheppard, Paul Mark, Margaret H. Harr, Hakon Hakonarson, Lance Rodan, Adam Jackson, Pradeep Vasudevan
and 41 other authorsCorrina Powel, Shehla Mohammed, Sateesh Maddirevula, Hamad Alzaidan, Eissa A. Faqeih, Stephanie Efthymiou, Valentina Turchetti, Fatima Rahman, Shazia Maqbool, Vincenzo Salpietro, Shahnaz H. Ibrahim, Gabriella di Rosa, Henry Houlden, Maha Nasser Alharbi, Nouriya Abbas Al-Sannaa, Peter Bauer, Giovanni Zifarelli, Conchi Estaras, Anna C. E. Hurst, Michelle L. Thompson, Anna Chassevent, Constance L. Smith-Hicks, Xavier de la Cruz, Alexander M. Holtz, Houda Zghal Elloumi, M J Hajianpour, Claudine Rieubland, Dominique Braun, Siddharth Banka, Genomic England Research Consortium, Deborah L. French, Elizabeth A. Heller, Murielle Saade, Hongjun Song, Guo-li Ming, Fowzan S. Alkuraya, Pankaj B. Agrawal, Danny Reinberg, Elizabeth J. Bhoj, Marian A. Martínez-Balbás, Naiara Akizu
Published: 11 July 2023
Type: Research article
License: CC BY
Institutions: Children's Hospital of Philadelphia (United States), University of Pennsylvania (United States), UCL Queen Square Institute of Neurology (United Kingdom), University College London (United Kingdom), Consejo Superior de Investigaciones Científicas (Spain), Institut de Biologia Molecular de Barcelona (Spain), Seoul National University (South Korea), Universitat Autònoma de Barcelona (Spain), Vall d'Hebron Institut de Recerca (Spain), Helen DeVos Children's Hospital (United States), Corewell Health (United States), Boston Children's Hospital (United States), University of Manchester (United Kingdom), St Mary's Hospital (United Kingdom), Manchester University NHS Foundation Trust (United Kingdom), Health Innovation Manchester (United Kingdom), Leicester Royal Infirmary (United Kingdom), University Hospitals of Leicester NHS Trust (United Kingdom), Guy's Hospital (United Kingdom), King Faisal Specialist Hospital & Research Centre (Saudi Arabia), King Fahd Medical City (Saudi Arabia), University of Child Health Sciences (Pakistan), Aga Khan University (Pakistan), Aga Khan University Hospital (Pakistan), University of Messina (Italy), Saudi Aramco Medical Services Organization (Saudi Arabia), Centogene (Germany) (Germany), Temple University (United States), University of Alabama at Birmingham (United States), HudsonAlpha Institute for Biotechnology (United States), Kennedy Krieger Institute (United States), Johns Hopkins University (United States), Johns Hopkins Medicine (United States), Institució Catalana de Recerca i Estudis Avançats (Spain), Albany Medical College (United States), University of Bern (Switzerland), University Hospital of Bern (Switzerland), Alfaisal University (Saudi Arabia), University of Miami (United States), Jackson Health System (United States), Manton Center for Orphan Disease Research (United States), Howard Hughes Medical Institute (United States), NYU Langone Health (United States), New York University (United States)

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