Pathogenic <i>SPTBN1</i> variants cause a novel autosomal dominant neurodevelopmental syndrome
Margot A. Cousin(Mayo Clinic), Ingrid M.B.H. van de Laar(Erasmus MC), Alison S. May(Columbia University Irving Medical Center), Grazia M.S. Mancini(Erasmus MC), Damian Smedley(University of Iowa), Sruthi Dontu(University of North Carolina at Chapel Hill), Robert F. Stratton(Driscoll Children's Hospital), Tatjana Bierhals(Universität Hamburg), Amy Blevins(Universitat Autònoma de Barcelona), Evan E. Eichler(University of Washington), Jessica Becker(University of Bonn), Stefan Aretz(University of Bonn), Jennifer MacKenzie(McMaster Children's Hospital), Hartmut Engels, Eva H. Brilstra(Utrecht University), Blake A. Creighton(University of North Carolina at Chapel Hill), Gretchen Parsons(Spectrum Health), Evangeline C. Kurtz‐Nelson(University of Washington), Joseph T.C. Shieh(University of California, San Francisco), Koen L.I. van Gassen(University Medical Center Utrecht), Elizabeth A. Normand, Swarnendu Tripathi(Medical College of Wisconsin), Kathryn M. Harper(University of North Carolina at Chapel Hill), Deike Weiss(Universität Hamburg), Helen V. Firth(Wellcome Sanger Institute), Amy Kritzer(Boston Children's Hospital), Erin Torti, Raphael Bernier(University of Washington), Bertrand Isidor(Centre National de la Recherche Scientifique), Renske Oegema(Utrecht University), Katja Kloth(Universität Hamburg), Vimla S. Aggarwal(Columbia University Irving Medical Center), Marjon A. van Slegtenhorst(Erasmus MC), Cecilia Fairley(University of California, San Francisco), Deepa Ajit(University of North Carolina at Chapel Hill), Michael C. Stankewich(Yale University), Richard H. van Jaarsveld(Utrecht University), Paul R. Mark(Spectrum Health), Keith A. Breau(University of North Carolina at Chapel Hill), Ingo Helbig(Schneider Electric (France)), Tianyun Wang(King University), Yue Si, Benjamin Cogné(Centre National de la Recherche Scientifique), Rebecca C. Spillmann(Rambam Health Care Campus), Sarah McKeown(Children's Hospital of Philadelphia), Kirsten Cremer, Richard Person(GenVec), Pilar Cacheiro(Queen Mary University of London), Parul Jayakar(Miami Children's Hospital), Louise Bier(Columbia University Irving Medical Center)
Cited by 3
Related Papers
Finding the missing heritability of complex diseases
|Nature|2009|8.5k
A Draft Sequence of the Neandertal Genome
|Science|2010|4.6k
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
|Nature|2012|2.2k
Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
|New England Journal of Medicine|2013|2k
Evolutionary and Biomedical Insights from the Rhesus Macaque Genome
|Science|2007|1.5k