요약정보
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.
- Resource Type
- Academic Journal
- Authors
- Marchant RG; Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia.; Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, New South Wales, Australia.; Faculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia.; Bryen SJ; Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia.; Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, New South Wales, Australia.; Faculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia.; Bahlo M; Functional Neuromics, Children's Medical Research Institute, Westmead, New South Wales, Australia.; Population Health and Immunity, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.; Cairns A; Department of Medical Biology, The University of Melbourne, Parkville, Victoria, Australia.; Neurosciences Department, Queensland Children's Hospital, Brisbane, Queensland, Australia.; Chao KR; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Corbett A; Neurology Department, Repatriation General Hospital Concord, Concord, New South Wales, Australia.; Davis MR; Department of Diagnostic Genomics, PathWest Laboratory Medicine, Perth, WA, Australia.; Ganesh VS; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Neuromuscular Division, Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; Ghaoui R; Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide, South Australia, Australia.; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.; Department of Genetics & Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; Jones KJ; Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia.; Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, New South Wales, Australia.; Clinical Genetics, Children's Hospital at Westmead, Westmead, New South Wales, Australia.; Kornberg AJ; Department of Neurology, Royal Children's Hospital Melbourne, Parkville, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.; Neurosciences Group, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Lek M; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Department of Genetics, Yale School of Medicine, New Haven, Connecticut, USA.; Liang C; Department of Neurology, Royal North Shore Hospital, St Leonards, New South Wales, Australia.; Neurogenetics, Northern Clinical School, Kolling Institute, The University of Sydney, Sydney, New South Wales, Australia.; MacArthur DG; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Centre for Population Genomics, Garvan Institute of Medical Research/University of New South Wales, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Oates EC; School of Biotechnology and Biomolecular Sciences, University of New South Wales, Randwick, New South Wales, Australia.; O'Donnell-Luria A; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.; O'Grady GL; Starship Children's Health, Auckland District Health Board, Auckland, New Zealand.; Osei-Owusu IA; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Rafehi H; Functional Neuromics, Children's Medical Research Institute, Westmead, New South Wales, Australia.; Population Health and Immunity, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.; Reddel SW; Neurology Department, Repatriation General Hospital Concord, Concord, New South Wales, Australia.; Brain and Mind Centre, The University of Sydney, Sydney, New South Wales, Australia.; Roxburgh RH; Department of Neurology, Auckland District Health Board, Auckland, New Zealand.; Centre of Brain Research Neurogenetics Research Clinic, University of Auckland, Auckland, New Zealand.; Ryan MM; Department of Neurology, Royal Children's Hospital Melbourne, Parkville, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.; Neurosciences Group, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Sandaradura SA; Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia.; Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, New South Wales, Australia.; Clinical Genetics, Children's Hospital at Westmead, Westmead, New South Wales, Australia.; Scott LW; Functional Neuromics, Children's Medical Research Institute, Westmead, New South Wales, Australia.; Population Health and Immunity, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.; Valkanas E; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.; Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, Massachusetts, USA.; Weisburd B; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Young H; Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, New South Wales, Australia.; Department of Neurology, Children's Hospital at Westmead, Westmead, New South Wales, Australia.; Paediatrics, Royal North Shore Hospital, St Leonards, New South Wales, Australia.; Evesson FJ; Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia.; Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, New South Wales, Australia.; Faculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia.; Waddell LB; Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia.; Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, New South Wales, Australia.; Cooper ST; Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia.; Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, New South Wales, Australia.; Faculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia.
- Source
- Publisher:
Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2328-9503 (Electronic) Linking ISSN:23289503 NLM ISO Abbreviation: Ann Clin Transl Neurol Subsets: MEDLINE - Subject
- Language
- English