Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases
Sarah L. Stenton(Broad Institute), Anne O’Donnell‐Luria(Broad Institute), Kristen M. Laricchia(Broad Institute), Stephanie DiTroia(Broad Institute), Heidi L. Rehm(Unknown), Joseph G. Gleeson(Children’s Institute), Monkol Lek(Massachusetts General Hospital), Mayada Abu Shanap(King Hussein Cancer Center), Sushma Chaluvadi, Sandra Donkervoort(Government of the United States of America), Ikeoluwa Osei‐Owusu(MACOM (United States)), Éric Vilain(University of California, Irvine), Lynn Pais(MACOM (United States)), David R. Thorburn(Royal Children's Hospital), Eric A. Pierce(Broad Institute), Tiong Yang Tan(Royal Children's Hospital), Melanie O’Leary(MACOM (United States)), Mark D. Fleming(Boston Children's Hospital), Vijay Ganesh(Stanford University), Alison G. Compton(Royal Children's Hospital), Carsten G. Bönnemann(National Institute of Neurological Disorders and Stroke), Susan M. White(The University of Melbourne), Zornitza Stark(Zoos Victoria), Lyndon Gallacher(The University of Queensland), Akiko Shimamura(Johns Hopkins Hospital), Nicole J. Lake(Yale University), Göknur Haliloğlu(Hacettepe University Hospital), Emily Place(MACOM (United States)), Emily O’Heir(MACOM (United States)), Chelsea Barrows(Children’s Institute), Seth Berger(Children's National), Christina Austin‐Tse(Broad Institute), Kinga M. Bujakowska(Massachusetts Eye and Ear Infirmary), Dean R. Campagna(Boston Children's Hospital), Vijay G. Sankaran(Broad Institute)
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