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Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study.
Shickh, Salma; Gutierrez Salazar, Mariana; Zakoor, Kathleen-Rose; Lázaro, Conxi; Gu, Jessica; Goltz, Jamie; Kleinman, Dakota; Noor, Abdul; Khalouei, Sam; Mighton, Chloe; Reble, Emma; Kodida, Rita; Bombard, Yvonne; DiTroia, Stephanie; Baxter, Samantha; Watkins, Nicholas; Care, Melanie; Adler, Arnon; Horsburgh, Sheri; Morar, Oana; Murphy, Jillian; Nevay, Dayna-Lynn; Szybowska, Marta; Aronson, Melyssa; Panchal, Seema; Godoy, Ruth; Holter, Spring; Randall Armel, Susan; Semotiuk, Kara; Elser, Christine; Kim, Raymond H; Chitayat, David; So, Joyce; Faghfoury, Hanna; Silver, Josh; Morel, Chantal F; Lerner-Ellis, Jordan.
Afiliação
  • Shickh S; Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, Ontario, Canada.
  • Gutierrez Salazar M; Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada.
  • Zakoor KR; Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health System, Toronto, Ontario, Canada.
  • Lázaro C; Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health System, Toronto, Ontario, Canada.
  • Gu J; Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health System, Toronto, Ontario, Canada.
  • Goltz J; Hereditary Cancer Program, Catalan Institute of Oncology (ICO), Hospital Duran i Reynals, Bellvitge Institute for Biomedical Research (IDIBELL), L'Hospitalet, Barcelona, Spain.
  • Kleinman D; Women's College Research Institute, Women's College Hospital, Toronto, Ontario, Canada.
  • Noor A; Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health System, Toronto, Ontario, Canada.
  • Khalouei S; Genetics, Medcan Clinic, Toronto, Ontario, Canada.
  • Mighton C; University of Guelph, Guelph, Ontario, Canada.
  • Reble E; Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health System, Toronto, Ontario, Canada.
  • Kodida R; Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health System, Toronto, Ontario, Canada.
  • Bombard Y; Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health System, Toronto, Ontario, Canada.
  • DiTroia S; Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, Ontario, Canada.
  • Baxter S; Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada.
  • Watkins N; Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, Ontario, Canada.
  • Care M; Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, Ontario, Canada.
  • Adler A; Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, Ontario, Canada.
  • Horsburgh S; Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada.
  • Morar O; Center for Mendelian Genomics, Broad Institute, Cambridge, Massachusetts, USA.
  • Murphy J; Center for Mendelian Genomics, Broad Institute, Cambridge, Massachusetts, USA.
  • Nevay DL; Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health System, Toronto, Ontario, Canada.
  • Szybowska M; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
  • Aronson M; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
  • Panchal S; Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Ontario, Canada.
  • Godoy R; Department of Cardiology, Peter Munk Cardiac Centre, Toronto General Hospital, Toronto, Ontario, Canada.
  • Holter S; Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.
  • Randall Armel S; Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Ontario, Canada.
  • Semotiuk K; Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Ontario, Canada.
  • Elser C; Clinical Genetics, Trillium Health Partners, Mississauga, Ontario, Canada.
  • Kim RH; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
  • Chitayat D; Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Ontario, Canada.
  • So J; Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Ontario, Canada.
  • Faghfoury H; Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Ontario, Canada.
  • Silver J; Zane Cohen Centre for Digestive Diseases, Mount Sinai Hospital, Sinai Health System, Toronto, Ontario, Canada.
  • Morel CF; Marvelle Koffler Breast Centre, Mount Sinai Hospital, Sinai Health System, Toronto, Ontario, Canada.
  • Lerner-Ellis J; Marvelle Koffler Breast Centre, Mount Sinai Hospital, Sinai Health System, Toronto, Ontario, Canada.
J Med Genet ; 58(4): 275-283, 2021 04.
Article em En | MEDLINE | ID: mdl-32581083
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Sequenciamento Completo do Genoma / Sequenciamento do Exoma / Doenças não Diagnosticadas Tipo de estudo: Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Female / Humans / Male / Middle aged País/Região como assunto: America do norte Idioma: En Revista: J Med Genet Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Canadá
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Sequenciamento Completo do Genoma / Sequenciamento do Exoma / Doenças não Diagnosticadas Tipo de estudo: Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Female / Humans / Male / Middle aged País/Região como assunto: America do norte Idioma: En Revista: J Med Genet Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Canadá