Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients
Authors: Laura Bryant; Dong Li; Samuel G. Cox; Dylan M. Marchione; Evan F. Joiner; Khadija Wilson; Kevin Janssen; Pearl Lee; Michael E. March; Divya Nair; Elliot Sherr; Brieana Fregeau; Klaas J. Wierenga; Alexandrea Wadley; Grazia M.S. Mancini; Nina Powell-Hamilton; Jiddeke M. van de Kamp; Theresa Grebe; John Dean; Alison Ross; Heather P. Crawford; Zoe Powis; Megan Cho; Marcia C. Willing; Linda Manwaring; Rachel Schot; Caroline Nava; Alexandra Afenjar; Davor Lessel; Matias Wagner; Thomas Klopstock; Juliane Winkelmann; Claudia Catarino; Kyle Retterer; Jane L. Schuette; Jeffrey W. Innis; Amy Pizzino; Sabine Lüttgen; Jonas Denecke; Tim M. Strom; Kristin G Monaghan; Holly Dubbs; Renee Bend; Jennifer A. Lee; Michael J. Lyons; Julia Hoefele; Roman Günthner; Heiko Reutter; Boris Keren; Kelly Radtke; Omar Sherbini; Cameron Mroske; Katherine L. Helbig; Sylvie Odent; Benjamin Cogne; Sandra Mercier; Stephane Bezieau; Thomas Besnard; Sebastien Kury; Richard Redon; Karit Reinson; Monica H. Wojcik; Katrin Õunap; Pilvi Ilves; A. Micheil Innes; Kristin D. Kernohan; Gregory Costain; Stephan Meyn; David Chitayat; Elaine H Zackai; Anna Lehman; Hilary Kitson; Martin G. Martin; Julian A. Martinez-Agosto; Stanley F. Nelson; Christina G.S. Palmer; Jeanette C. Papp; Neil H. Parker; Janet S. Sinsheimer; Eric Vilain; Jijun Wan; Amanda J. Yoon; Allison Zheng; Elise Brimble; Giovanni Battista Ferrero; Francesca Clementina Radio; Diana Carli; Sabina Barresi; Alfredo Brusco; Marco Tartaglia; Jennifer Thompson; Luis Umana; Marjan Weiss; Garrett Gotway; K E Stuurman; Michelle Thompson; Kirsty McWalter; Constance T.R.M. Stumpel; Servi J C Stevens; Alexander P.A. Stegmann; Kristian Tveten; Arve Vollo; Trine E. Prescott; Christina R. Fagerberg; Lone Walentin Laulund; Martin J. Larsen; Melissa Byler; Robert Roger Lebel; Anna C. E. Hurst; Joy Dean; Samantha A. Schrier Vergano; Jennifer Norman; Saadet Mercimek-Andrews; Juanita Neira; Margot I Van Allen; Nicola Longo; Elizabeth Sellars; Raymond Vanderver; Celeste Simon; Xavier de la Cruz; Natalia Padilla; J. Gage Crump; Wendy Chung; Benjamin Garcia; Hakon Hakonarson; Elizabeth J. Bhoj
Collaborators: Aberdeen Royal Infirmary; Alfred I. duPont Hospital for Children; APHP, GH Pitié Salpêtrière, Department of Genetics, Unit of Development Genomics; Boston Children's Hospital; Broad Institute of MIT and Harvard; Children's Hospital of Eastern Ontario Research Institute; Children's Hospital of Philadelphia; Children's Hospital of The King's Daughters; Children's National Medical Center; Cook Children's Medical Center; David Geffen School of Medicine, UCLA; Department of Medical Genetics, Telemark Hospital Trust; Emory University; Erasmus University Medical Center; GeneDx; German Center for Neurodegenerative Diseases; Greenwood Genetic Center; Helmholtz Zentrum München; Helmholtz-Zentrum Dresden-Rossendorf (HZDR); Hospital of Østfold; Hospital of the University of Pennsylvania; HudsonAlpha Institute for Biotechnology; Inserm; Institució Catalana de Recerca i Estudis Avançats; INTEGRIS Pediatric Neurology; Lebanese American University; Ludwig-Maximilians University; Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital; Maastricht University Medical Center; Mattel Children's Hospital; Mayo Clinic; Munich Cluster for Systems Neurology, SyNergy; Odense University Hospital; Ospedale Pediatrico Bambino Gesù; Phoenix Children's Hospital; Provincial Health Shared Services BC and Vancouver Island Health Shared Services BC; Sorbonne Universités, Paris, France; Stanford; SUNY Upstate Medical University, Syracuse, NY; Tartu University Hospital; The Hospital for Sick Children, The University of Toronto; University Hospital Bonn; University of Alabama at Birmingham; University of Arkansas for Medical Sciences; University of British Columbia; University of Calgary; University of California, San Francisco; University of Michigan; University of Pennsylvania; University of Southern California; University of Texas Southwestern Medical Center; University of Torino; University of Utah; University of Wisconsin - Madison; Vall d'Hebron Institute of Oncology; Vanderbilt University; VU Medical Center; Washington University School of Medicine, St. Louis Children’s Hospital