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Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing.
Stevanovski, Igor; Chintalaphani, Sanjog R; Gamaarachchi, Hasindu; Ferguson, James M; Pineda, Sandy S; Scriba, Carolin K; Tchan, Michel; Fung, Victor; Ng, Karl; Cortese, Andrea; Houlden, Henry; Dobson-Stone, Carol; Fitzpatrick, Lauren; Halliday, Glenda; Ravenscroft, Gianina; Davis, Mark R; Laing, Nigel G; Fellner, Avi; Kennerson, Marina; Kumar, Kishore R; Deveson, Ira W.
Afiliação
  • Stevanovski I; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia.
  • Chintalaphani SR; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia.
  • Gamaarachchi H; School of Medicine, University of New South Wales, Sydney, NSW, Australia.
  • Ferguson JM; St Vincent's Clinical School, Faculty of Medicine, University of New South Wales, Sydney, NSW, Australia.
  • Pineda SS; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia.
  • Scriba CK; School of Computer Science and Engineering, University of New South Wales, Sydney, NSW, Australia.
  • Tchan M; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia.
  • Fung V; Garvan-Weizmann Centre for Cellular Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia.
  • Ng K; The University of Sydney, Brain and Mind Centre and School of Medical Sciences, Faculty of Medicine and Health, Camperdown, NSW, Australia.
  • Cortese A; Harry Perkins Institute of Medical Research, University of Western Australia, Nedlands, WA, Australia.
  • Houlden H; Diagnostic Genomics, PathWest Laboratory Medicine WA, Nedlands, WA, Australia.
  • Dobson-Stone C; Westmead Hospital, Westmead, NSW, Australia and Sydney Medical School, The University of Sydney, NSW, Australia.
  • Fitzpatrick L; Westmead Hospital, Westmead, NSW, Australia and Sydney Medical School, The University of Sydney, NSW, Australia.
  • Halliday G; Department of Neurology, Royal North Shore Hospital and The University of Sydney, Sydney, NSW, Australia.
  • Ravenscroft G; Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
  • Davis MR; The National Hospital for Neurology and Neurosurgery, London, UK.
  • Laing NG; Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
  • Fellner A; The National Hospital for Neurology and Neurosurgery, London, UK.
  • Kennerson M; The University of Sydney, Brain and Mind Centre and School of Medical Sciences, Faculty of Medicine and Health, Camperdown, NSW, Australia.
  • Kumar KR; The University of Sydney, Brain and Mind Centre and School of Medical Sciences, Faculty of Medicine and Health, Camperdown, NSW, Australia.
  • Deveson IW; The University of Sydney, Brain and Mind Centre and School of Medical Sciences, Faculty of Medicine and Health, Camperdown, NSW, Australia.
Sci Adv ; 8(9): eabm5386, 2022 03 04.
Article em En | MEDLINE | ID: mdl-35245110
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Sequenciamento por Nanoporos Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Sequenciamento por Nanoporos Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article