Paper Details

Paper Title

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.

Paper Journal Title

Sci Transl Med

Paper Citation Count

450

Paper Publication Year

2017

Bio Mention

COL6A1, Mendelian disease, RNA, collagen VI, collagen VI dystrophy, collagen VI-like dystrophy, exonic and deep intronic regions, glycine, muscle disorders, patient, patients, rare disease, rare diseases, repeat motif

Mesh Descriptor

Author Name	Affiliation
Beryl B Cummings	Massachusetts General Hospital
Beryl B Cummings	Harvard Medical School
Beryl B Cummings	Broad Institute of Massachusetts Institute of Technology and Harvard
Jamie L Marshall	Massachusetts General Hospital
Jamie L Marshall	Broad Institute of Massachusetts Institute of Technology and Harvard
Taru Tukiainen	Massachusetts General Hospital
Taru Tukiainen	Broad Institute of Massachusetts Institute of Technology and Harvard
Monkol Lek	Massachusetts General Hospital
Monkol Lek	Institute for Neuroscience and Muscle Research, Kids Research Institute, The Children's Hospital at Westmead
Monkol Lek	University of Sydney
Monkol Lek	Broad Institute of Massachusetts Institute of Technology and Harvard
Fengmei Zhao	Massachusetts General Hospital
Fengmei Zhao	Broad Institute of Massachusetts Institute of Technology and Harvard
Ben Weisburd	Massachusetts General Hospital
Ben Weisburd	Broad Institute of Massachusetts Institute of Technology and Harvard
Ben Weisburd	Massachusetts General Hospital
Ben Weisburd	Broad Institute of Massachusetts Institute of Technology and Harvard
Konrad J Karczewski	Massachusetts General Hospital
Konrad J Karczewski	Broad Institute of Massachusetts Institute of Technology and Harvard
Konrad J Karczewski	Massachusetts General Hospital
Konrad J Karczewski	Broad Institute of Massachusetts Institute of Technology and Harvard
Anne O'Donnell-Luria	Massachusetts General Hospital
Anne O'Donnell-Luria	Broad Institute of Massachusetts Institute of Technology and Harvard
Anne O'Donnell-Luria	Massachusetts General Hospital
Anne O'Donnell-Luria	Broad Institute of Massachusetts Institute of Technology and Harvard
Daniel Birnbaum	Massachusetts General Hospital
Daniel Birnbaum	Broad Institute of Massachusetts Institute of Technology and Harvard
Anna Sarkozy	University College London Institute of Child Health
Hernan Gonorazky	Hospital for Sick Children
Mark R Davis
Nigel G Laing
Nigel G Laing	Harry Perkins Institute of Medical Research, University of Western Australia
Alan H Beggs	Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School
Kathryn N North	Murdoch Childrens Research Institute, Royal Children's Hospital
Volker Straub	John Walton Muscular Dystrophy Research Centre, MRC (Medical Research Council) Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University
Francesco Muntoni	University College London Institute of Child Health
Daniel G MacArthur	Massachusetts General Hospital
Daniel G MacArthur	Broad Institute of Massachusetts Institute of Technology and Harvard
Daniel G MacArthur	Massachusetts General Hospital
Daniel G MacArthur	Broad Institute of Massachusetts Institute of Technology and Harvard

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