Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
Dmitrijs Rots(Radboud University Nijmegen), Kristin Lindstrom(Phoenix Children's Hospital), Susan Walker(Genomics England), Rolph Pfundt(Radboud University Nijmegen), M. Stephen Meyn(University of Wisconsin–Madison), Cheryl Cytrynbaum(Hospital for Sick Children), Daniëlle G.M. Bosch(Erasmus MC), Anne Slavotinek(Cincinnati Children's Hospital Medical Center), Ingrid M. Wentzensen, Tuula Rinne(Radboud University Nijmegen), Eric Chater‐Diehl(Hospital for Sick Children), Jonas Denecke(Universität Hamburg), Michael Kwint(Radboud University Nijmegen), Davor Lessel(Universität Hamburg), Thatjana Gardeitchik(Radboud University Nijmegen), Erika Leenders(Radboud University Nijmegen), Leandra Folk, Francisca Millan, Koen L.I. van Gassen(University Medical Center Utrecht), Eric W. Klee(Mayo Clinic), Laura Schultz‐Rogers(Mayo Clinic), Amy Crunk, Sarah J. Goodman(Hospital for Sick Children), Jonathan B. Strober(University of California, San Francisco), Ellen van Binsbergen(University Medical Center Utrecht), Constance T. R. M. Stumpel(University Medical Center), Servi J.C. Stevens(Maastricht University), Alexander J.M. Dingemans(Radboud University Nijmegen), Hui Yang(Anhui Agricultural University), Jennifer Campbell(Clinton Health Access Initiative), Yili Xie, Maja Hempel(Helmholtz Zentrum München), Christa M. de Geus(University Medical Center Groningen), Bert B.A. de Vries(Radboud University Nijmegen), Zain Awamleh(Hospital for Sick Children), Éva Morava(Institut thématique Génétique, génomique et bioinformatique), Joshua Charkow(Hospital for Sick Children), Lilian Bomme Ousager(University of Southern Denmark), Jeske van Harssel(University Medical Center Utrecht), A. Chantal Deden(Radboud University Nijmegen), Ny Hoang(University of Toronto), Shuxi Liu, Fanggeng Zou, Martin J. Larsen(University of Southern Denmark), Hein Brackel(Radboud University Nijmegen), Jeroen R. Vermeulen(Maastricht University), Richard Person(GenVec), Sanaa Choufani(Hospital for Sick Children), Michelle T. Siu(Hospital for Sick Children), Ian Berry(Leeds Teaching Hospitals NHS Trust)
Cited by 76
Related Papers
Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
|New England Journal of Medicine|2013|2k
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
|Nature Neuroscience|2017|936