Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
Beryl B. Cummings(Broad Institute), Daniel G. MacArthur(Wellcome Sanger Institute), Sandra T. Cooper(The University of Sydney), Emily C. Oates(The University of Sydney), Kathryn N. North(The University of Sydney), Taru Tukiainen(Broad Institute), Sarah A. Sandaradura(The University of Sydney), Monkol Lek(Massachusetts General Hospital), Volker Straub(Newcastle upon Tyne Hospitals NHS Foundation Trust), Sandra Donkervoort(National Institutes of Health), Nigel G. Laing(University of Western Australia), Daniel Birnbaum(Inserm), James J. Dowling(University of Toronto), Kristl G. Claeys(Sorbonne Université), Véronique Bolduc(National Institute of Neurological Disorders and Stroke), Roula Ghaoui(Perron Institute for Neurological and Translational Science), Adam Bournazos(The University of Sydney), Mark R. Davis(University of Oregon), Hemakumar M. Reddy(Centre for Cellular and Molecular Biology), Anna Sárközy(University College London), Alan H. Beggs(Boston Children's Hospital), Elicia Estrella(Boston Children's Hospital), Jamie L. Marshall(Broad Institute), Carsten G. Bönnemann(National Institutes of Health), Ben Weisburd(MACOM (United States)), Peter B. Kang(Boston Children's Hospital), Ana Töpf(Newcastle upon Tyne Hospitals NHS Foundation Trust), Hernán Gonorazky(Hospital Italiano de Buenos Aires), Nigel F. Clarke(The University of Sydney), A. Reghan Foley(National Institutes of Health), Gina O’Grady(The University of Sydney), Anne O’Donnell‐Luria(Broad Institute), Ying Hu(National Institute of Neurological Disorders and Stroke), Himanshu Joshi(Children's Hospital at Westmead), Konrad J. Karczewski(Broad Institute), Francesco Muntoni(Great Ormond Street Hospital), Leigh B. Waddell(The University of Sydney), Fengmei Zhao(Broad Institute)
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