DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE <i>PCBP1</i> CAUSE A NEURODEVELOPMENTAL DISORDER
Wallid Deb(Centre National de la Recherche Scientifique), Sébastien Küry(Centre National de la Recherche Scientifique), Jennifer E. Posey(Baylor College of Medicine), Frédéric Ebstein(Centre National de la Recherche Scientifique), Tiffany Busa(Assistance Publique Hôpitaux de Marseille), Louis Januel(Hospices Civils de Lyon), Frédéric Laumonnier(Université de Tours), Patricia Dickson(Washington University in St. Louis), Tobias B. Haack(Technical University of Munich), Roger L. Ladda(Penn State Milton S. Hershey Medical Center), Hane Lee(Orion Corporation (United Kingdom)), Benjamin Dauriat(Génétique Médicale & Génomique Fonctionelle), Sylviane Marouillat(Université de Tours), Anne Slavotinek(Cincinnati Children's Hospital Medical Center), Belinda Campos‐Xavier(University of Lausanne), Wojciech Wiszniewski, Mihael Rogač(Ljubljana University Medical Centre), Virginie Vignard(Centre National de la Recherche Scientifique), Thomas Besnard(Génétique Médicale & Génomique Fonctionelle), Daniel G. Calame, Laura Do Souto Ferreira(Génétique Médicale & Génomique Fonctionelle), Alison M. Muir(GenVec), Taryn Athey(University of Alberta), Rebecca Buchert(Institute of Human Genetics), Susan L. Sell(Penn State Milton S. Hershey Medical Center), Marjon A. van Slegtenhorst(Erasmus MC), Paweł Gawliński(Mother and Child Foundation), Meghan C. Towne(Ambry Genetics (United States)), Svetlana Gorokhova(National Institutes of Health), Ingrid M.B.H. van de Laar(Erasmus MC), Christian Netzer(University of Cologne), Florence Desprez(Université de Tours), Victor Morel(Assistance Publique Hôpitaux de Marseille), Stéphane Bezieau(Centre Hospitalier Universitaire de Nantes), Hans Zempel(RWTH Aachen University), Sophie Kaspar(Institute of Human Genetics), Peter Kannu(University of Alberta), Xiaofei Song(Jiangsu University), Sérgio B. Sousa, Bertrand Isidor(Génétique Médicale & Génomique Fonctionelle), Benjamin Cogné(Centre National de la Recherche Scientifique), Vincent Desportes(Hôpital Femme Mère Enfant), Yu An(University of California, San Francisco), Jessy Hary(Génétique Médicale & Génomique Fonctionelle), Dominic Imort(Solvay (Belgium)), James R. Lupski(Baylor College of Medicine), Pedro M Almeida(Hospitais da Universidade de Coimbra), Borut Peterlin(National Hospital for Neurology and Neurosurgery)
Cited by 0
Related Papers
Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
|New England Journal of Medicine|2013|2k
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Starqardt macular dystrophy
|Nature Genetics|1997|1.4k
Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology
|Journal of the National Comprehensive Cancer Network|2021|1.1k