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Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study.
Hartley, Taila; Marshall, Deborah; Acker, Meryl; Fooks, Katharine; Gillespie, Meredith K; Price, E Magda; Graham, Ian D; White-Brown, Alexandre; MacKay, Layla; Macdonald, Stella K; Brady, Lauren; Hui, Angela Y; Andrews, Joseph D; Chowdhury, Ashfia; Wall, Erika; Soubry, Élisabeth; Ediae, Grace U; Rojas, Samantha; Assamad, Daniel; Dyment, David; Tarnopolsky, Mark; Sawyer, Sarah L; Chisholm, Caitlin; Lemire, Gabrielle; Amburgey, Kimberly; Lazier, Joanna; Mendoza-Londono, Roberto; Dowling, James J; Balci, Tugce B; Armour, Christine M; Bhola, Priya T; Costain, Gregory; Dupuis, Lucie; Carter, Melissa; Badalato, Lauren; Richer, Julie; Boswell-Patterson, Christie; Kannu, Peter; Cordeiro, Dawn; Warman-Chardon, Jodi; Graham, Gail; Siu, Victoria Mok; Cytrynbaum, Cheryl; Rusnak, Alison; Aul, Ritu B; Yoon, Grace; Gonorazky, Hernan; McNiven, Vanda; Mercimek-Andrews, Saadet; Guerin, Andrea.
Afiliación
  • Hartley T; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada; University of Ottawa, Ottawa, Canada. Electronic address: thartley@cheo.on.ca.
  • Marshall D; University of Calgary, Calgary, Canada.
  • Acker M; Hospital for Sick Children, Toronto, Canada.
  • Fooks K; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada.
  • Gillespie MK; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada; Children's Hospital of Eastern Ontario, Ottawa, Canada.
  • Price EM; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.
  • Graham ID; University of Ottawa, Ottawa, Canada; Ottawa Hospital Research Institute, Ottawa, Canada.
  • White-Brown A; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.
  • MacKay L; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.
  • Macdonald SK; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.
  • Brady L; McMaster Children's Hospital, McMaster University, Hamilton, Canada.
  • Hui AY; Kingston Health Sciences Center, Queen's University, Kingston, Canada.
  • Andrews JD; London Health Sciences Centre, Western University, London, Canada.
  • Chowdhury A; London Health Sciences Centre, Western University, London, Canada.
  • Wall E; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.
  • Soubry É; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.
  • Ediae GU; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.
  • Rojas S; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.
  • Assamad D; University of Toronto, Toronto, Canada.
  • Dyment D; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada; University of Ottawa, Ottawa, Canada; Children's Hospital of Eastern Ontario, Ottawa, Canada.
  • Tarnopolsky M; McMaster Children's Hospital, McMaster University, Hamilton, Canada.
  • Sawyer SL; University of Ottawa, Ottawa, Canada; Children's Hospital of Eastern Ontario, Ottawa, Canada.
  • Chisholm C; Children's Hospital of Eastern Ontario, Ottawa, Canada.
  • Lemire G; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada; University of Ottawa, Ottawa, Canada.
  • Amburgey K; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada.
  • Lazier J; University of Ottawa, Ottawa, Canada; Children's Hospital of Eastern Ontario, Ottawa, Canada.
  • Mendoza-Londono R; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada.
  • Dowling JJ; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada.
  • Balci TB; London Health Sciences Centre, Western University, London, Canada.
  • Armour CM; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada; University of Ottawa, Ottawa, Canada; Children's Hospital of Eastern Ontario, Ottawa, Canada.
  • Bhola PT; University of Ottawa, Ottawa, Canada; Children's Hospital of Eastern Ontario, Ottawa, Canada.
  • Costain G; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada.
  • Dupuis L; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada.
  • Carter M; University of Ottawa, Ottawa, Canada; Children's Hospital of Eastern Ontario, Ottawa, Canada.
  • Badalato L; Kingston Health Sciences Center, Queen's University, Kingston, Canada.
  • Richer J; University of Ottawa, Ottawa, Canada; Children's Hospital of Eastern Ontario, Ottawa, Canada.
  • Boswell-Patterson C; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.
  • Kannu P; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada; The Ottawa Hospital, Ottawa, Canada.
  • Cordeiro D; University of Toronto, Toronto, Canada.
  • Warman-Chardon J; University of Ottawa, Ottawa, Canada; Children's Hospital of Eastern Ontario, Ottawa, Canada; Ottawa Hospital Research Institute, Ottawa, Canada; University of Alberta, Edmonton, Alberta, Canada.
  • Graham G; University of Ottawa, Ottawa, Canada; Children's Hospital of Eastern Ontario, Ottawa, Canada.
  • Siu VM; London Health Sciences Centre, Western University, London, Canada.
  • Cytrynbaum C; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada.
  • Rusnak A; University of Ottawa, Ottawa, Canada; Children's Hospital of Eastern Ontario, Ottawa, Canada; Kingston Health Sciences Center, Queen's University, Kingston, Canada.
  • Aul RB; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada.
  • Yoon G; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada.
  • Gonorazky H; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada.
  • McNiven V; University of Toronto, Toronto, Canada.
  • Mercimek-Andrews S; University of Toronto, Toronto, Canada; University of Toronto, Toronto, Canada.
  • Guerin A; Kingston Health Sciences Center, Queen's University, Kingston, Canada.
Genet Med ; 26(2): 101012, 2024 Feb.
Article en En | MEDLINE | ID: mdl-37924259
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades Raras / Exoma Límite: Humans País/Región como asunto: America do norte Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2024 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades Raras / Exoma Límite: Humans País/Región como asunto: America do norte Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2024 Tipo del documento: Article Pais de publicación: Estados Unidos