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
Resource Type
Article
Authors
Boycott, Kym ; Brudno, Michael ; Bernier, Francois ; van Karnebeek, Clara ; Dyment, David ; Kernohan, Kristin ; Innes, Micheil ; Lamont, Ryan ; Parboosingh, Jillian ; Marshall, Deborah ; Marshall, Christian ; Mendoza, Roberto ; Dowling, James ; Hayeems, Robin ; Knoppers, Bartha ; Lehman, Anna ; Mostafavi, Sara ; Hartley, Taila ; 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 ; 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 ; Deshwar, Ashish R. ; Marwaha, Ashish ; Weksberg, Rosanna ; Karp, Natalya ; Campbell, Maggie ; Al-Qattan, Sarah ; Shuen, Andrew Y. ; Inbar-Feigenberg, Michal ; Cohn, Ronald ; Szuto, Anna ; Inglese, Cara ; Poirier, Myriam ; Chad, Lauren ; Potter, Beth ; Boycott, Kym M.
Source
In Genetics in Medicine February 2024 26(2)
Subject
Language
ISSN
1098-3600