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

Carolina Gracia-Diaz(Children's Hospital of Philadelphia), John C. Ambrose(Jackson Laboratory), Sateesh Maddirevula(King Faisal Specialist Hospital & Research Centre), Constance Smith‐Hicks(Kennedy Krieger Institute), Gabriella Di Rosa(University of Messina), Natàlia Padilla(Universitat Autònoma de Barcelona), Xavier de la Cruz(Institució Catalana de Recerca i Estudis Avançats), Adam Jackson(Sanford Health), Shazia Maqbool, Pradeep Vasudevan(Leicester Royal Infirmary), Giovanni Zifarelli(Centogene (Germany)), M.J. Hajianpour(Albany Medical Center Hospital), Raquel Fueyo(Consejo Superior de Investigaciones Científicas), Fatima Rahman, Stéphanie Efthymiou(Queen Mary University of London), Valentina Turchetti(National Hospital for Neurology and Neurosurgery), Elisa A. Waxman(Children's Hospital of Philadelphia), Houda Zghal Elloumi, Hamad Alzaidan(King Faisal Specialist Hospital & Research Centre), Shahnaz Ibrahim(Aga Khan University Hospital), Chul‐Hwan Lee(Seoul National University), Margaret Harr(Children's Hospital of Philadelphia), Sarah E. Sheppard(Genomics (United Kingdom)), Dominique Braun(University of Bern), Siddharth Banka(University of Manchester), Garrett Otrimski(Children's Hospital of Philadelphia), Claudine Rieubland(University of Bern), Nouriya Al‐Sannaa(Saudi Aramco Medical Services Organization), Lance H. Rodan(Boston Children's Hospital), Alexander M. Holtz(Boston Children's Hospital), Eissa Faqeih(King Fahd Medical City), Paula Espana-Bonilla(Consejo Superior de Investigaciones Científicas), Paul R. Mark(Spectrum Health), Henry Houlden(University College London), Anna Chassevent(Kennedy Krieger Institute), Corrina Powel(Leicester Royal Infirmary), Reza Maroofian(National Hospital for Neurology and Neurosurgery), Peter Bauer(Centogene (Germany)), Yijing Zhou(Children's Hospital of Philadelphia), Håkon Håkonarson(Children's Hospital of Philadelphia), Qian Yang(University of Pennsylvania), Dong Li(Children's Hospital of Philadelphia), Shuo Zhang(Translational Therapeutics (United States)), Sunyimeng Lei(Children's Hospital of Philadelphia), Anna Hurst(University of Alabama at Birmingham), Vincenzo Salpietro(University College London), Shehla Mohammed(Guy's Hospital), Michelle L. Thompson(HudsonAlpha Institute for Biotechnology), Maha Nasser Alharbi(Buraydah Colleges), Conchi Estarás(Institut de Biologia Molecular de Barcelona)
Nature Communications
July 11, 2023
Cited by 23


Related Papers