Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients

Laura Bryant(Penn Presbyterian Medical Center), Heiko Reutter(University Hospital Bonn), Holly Dubbs, Grazia M.S. Mancini(Erasmus MC), Klaas J. Wierenga(Mayo Clinic in Florida), Jeffrey W. Innis(University of Michigan), Michael J. Lyons, Michael March(Children's Hospital of Philadelphia), Zöe Powis(Quest Diagnostics (United Kingdom)), Rachel Schot(Erasmus MC), Thomas Klopstock(Ludwig-Maximilians-Universität München), Jonas Denecke(Universität Hamburg), Jane L. Schuette(University of Michigan), Davor Lessel(Universität Hamburg), Alison Ross(Wessex Regional Genetics Laboratory), Caroline Nava(Centre National de la Recherche Scientifique), Juliane Winkelmann(Helmholtz Zentrum München), Claudia B. Catarino(Friedrich Baur Stiftung), Kyle Retterer(Geisinger Health System), Nina Powell‐Hamilton(Alfred I. duPont Hospital for Children), Samuel G. Cox(University of Southern California), Julia Hoefele(Institute of Human Genetics), Renee Bend(Greenwood Genetic Center), Linda Manwaring(Washington University in St. Louis), Pearl Lee(Cancer Research Institute), Brieana Fregeau(University of California, San Francisco), Roman Günthner(University Hospital Bonn), Matias Wagner(Helmholtz Zentrum München), Khadija Wilson(University of Pennsylvania), Kevin A. Janssen(University of Pennsylvania), Megan T. Cho, Zuo‐Fei Yuan(St. Jude Children's Research Hospital), John Dean(University of Aberdeen), Elliott H. Sherr(University of California, San Francisco), Dylan M. Marchione(University of Pennsylvania), Alexandrea Wadley(Mayo Clinic in Florida), Amy Pizzino(Children's Hospital of Philadelphia), Dong Li(Children's Hospital of Philadelphia), Kristin G. Monaghan, Jennifer A. Lee(Greenwood Genetic Center), Jiddeke van de Kamp(Amsterdam UMC Location Vrije Universiteit Amsterdam), Alexandra Afenjar(Sorbonne Université), Tim M. Strom(Ludwig-Maximilians-Universität München), Theresa A. Grebe(St. Joseph's Hospital), Marcia Willing(Washington University in St. Louis), Heather P. Crawford(Cook Children's Medical Center), Evan F. Joiner(NewYork–Presbyterian Hospital), Sabine Lüttgen(Universität Hamburg), Divya Nair(Children's Hospital of Philadelphia)
Science Advances
December 3, 2020
Cited by 99


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