De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder

Davor Lessel(Universität Hamburg), Claudia Schob(Universität Hamburg), Sébastien Küry(Génétique Médicale & Génomique Fonctionelle), Margot R.F. Reijnders(Radboud University Nijmegen), Tamar Harel(Hadassah Medical Center), Mohammad K. Eldomery(Baylor College of Medicine), Zeynep Coban‐Akdemir(Baylor College of Medicine), Jonas Denecke(Universität Hamburg), Simon Edvardson(Hadassah Medical Center), Estelle Colin(Centre National de la Recherche Scientifique), Alexander P.A. Stegmann(Radboud University Nijmegen), Erica H. Gerkes(University Medical Center Groningen), Marine Tessarech(Centre National de la Recherche Scientifique), Dominique Bonneau(Centre National de la Recherche Scientifique), Magalie Barth(Centre National de la Recherche Scientifique), Thomas Besnard(Génétique Médicale & Génomique Fonctionelle), Benjamin Cogné(Génétique Médicale & Génomique Fonctionelle), Anya Revah‐Politi(Columbia University), Tim M. Strom(Helmholtz Zentrum München), Jill A. Rosenfeld(Baylor College of Medicine), Yaping Yang(Baylor College of Medicine), Jennifer E. Posey(Baylor College of Medicine), LaDonna Immken, Nelly Jouayed Oundjian(Valley Hospital), Katherine L. Helbig(Ambry Genetics (United States)), Naomi Meeks(Children's Hospital Colorado), Kelsey Zegar(Children's Hospital Colorado), Jenny Morton(Birmingham Women’s and Children’s NHS Foundation Trust), Jolanda Schieving(Radboud University Nijmegen), Ana M. Claasen(Translational Genomics Research Institute), Matthew J. Huentelman(Translational Genomics Research Institute), Vinodh Narayanan(Translational Genomics Research Institute), Keri Ramsey(Translational Genomics Research Institute), Han G. Brunner(Radboud University Nijmegen), Orly Elpeleg(Hadassah Medical Center), Sandra Mercier(Génétique Médicale & Génomique Fonctionelle), Stéphane Bezieau(Génétique Médicale & Génomique Fonctionelle), Christian Kubisch(Universität Hamburg), Tjitske Kleefstra(Radboud University Nijmegen), Stefan Kindler(Universität Hamburg), James R. Lupski(Baylor College of Medicine), Hans‐Jürgen Kreienkamp(Universität Hamburg)
The American Journal of Human Genetics
November 1, 2017
Cited by 108Open Access
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