De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome
Authors: Jung-Hyun Kim; Deepali N. Shinde; Margot R F Reijnders; Natalie S Hauser; Rebecca L Belmonte; Gregory R Wilson; Daniëlle G M Bosch; Paula A Bubulya; Vandana Shashi; Slavé Petrovski; Joshua K. Stone; Eun Young Park; Joris A Veltman; Margje Sinnema; Connie T R M Stumpel; Jos M Draaisma; Joost Nicolai; Helger G Yntema; Kristin Lindstrom; Bert B.A. de Vries; Tamison Jewett; Stephanie L Santoro; Julie Vogt; Kristine K. Bachman; Andrea H. Seeley; Alyson Krokosky; Clesson Turner; Luis Rohena; Maja Hempel; Fanny Kortüm; Davor Lessel; Axel Neu; Tim M. Strom; Dagmar Wieczorek; Nuria Bramswig; Franco A Laccone; Jana Behunova; Helga Rehder; Christopher T Gordon; Marlène Rio; Serge Romana; Sha Tang; Dima El-Khechen; Megan T. Cho; Kirsty McWalter; Ganka Douglas; Berivan Baskin; Amber Begtrup; Tara Funari; Kelly Schoch; Alexander P.A. Stegmann; Servi J C Stevens; Dong-Er Zhang; David Traver; Xu Yao; Daniel G MacArthur; Han G. Brunner; Grazia M.S. Mancini; Richard M. Myers; Laurie B Owen; Ssang-Taek Lim; David L. Stachura; Lisenka E L M Vissers; Eun-Young Erin Ahn
Collaborators: Broad Institute of MIT and Harvard; California State University, Chico; Columbia University; CTS; Duke University School of Medicine; Erasmus University Medical Center; Geisinger Medical Center; GeneDx; Hôpital Necker-Enfants Malades; HudsonAlpha Institute for Biotechnology; Human Genetics Department, Radboud University Medical Center; Institut Imagine; Institute of Medical Genetics, Medical University of Vienna; Maastricht University Medical Center; Ohio State University (OSU); The Francis Crick Institute; University Medical Center Hamburg-Eppendorf; University of South Alabama; University of Texas Health Science Center at Houston; Wake Forest School of Medicine; Walter Reed National Military Medical Center; Wellcome Trust Sanger Institute; Wright State University