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.
第一作者:
Taila,Hartley
第一单位:
Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada; University of Ottawa, Ottawa, Canada. Electronic address: thartley@cheo.on.ca.
作者:
Taila,Hartley [1]
;
Deborah,Marshall [2]
;
Meryl,Acker [3]
;
Katharine,Fooks [4]
;
Meredith K,Gillespie [5]
;
E Magda,Price [6]
;
Ian D,Graham [7]
;
Alexandre,White-Brown [6]
;
Layla,MacKay [6]
;
Stella K,Macdonald [6]
;
Lauren,Brady [8]
;
Angela Y,Hui [9]
;
Joseph D,Andrews [10]
;
Ashfia,Chowdhury [10]
;
Erika,Wall [6]
;
Élisabeth,Soubry [6]
;
Grace U,Ediae [6]
;
Samantha,Rojas [6]
;
Daniel,Assamad [11]
;
David,Dyment [12]
;
Mark,Tarnopolsky [8]
;
Sarah L,Sawyer [13]
;
Caitlin,Chisholm [14]
;
Gabrielle,Lemire [15]
;
Kimberly,Amburgey [4]
;
Joanna,Lazier [13]
;
Roberto,Mendoza-Londono [4]
;
James J,Dowling [4]
;
Tugce B,Balci [10]
;
Christine M,Armour [12]
;
Priya T,Bhola [13]
;
Gregory,Costain [4]
;
Lucie,Dupuis [4]
;
Melissa,Carter [13]
;
Lauren,Badalato [9]
;
Julie,Richer [13]
;
Christie,Boswell-Patterson [6]
;
Peter,Kannu [16]
;
Dawn,Cordeiro [11]
;
Jodi,Warman-Chardon [17]
;
Gail,Graham [13]
;
Victoria Mok,Siu [10]
;
Cheryl,Cytrynbaum [4]
;
Alison,Rusnak [18]
;
Ritu B,Aul [4]
;
Grace,Yoon [4]
;
Hernan,Gonorazky [4]
;
Vanda,McNiven [11]
;
Saadet,Mercimek-Andrews [19]
;
Andrea,Guerin [9]
;
Ashish R,Deshwar [4]
;
Ashish,Marwaha [20]
;
Rosanna,Weksberg [4]
;
Natalya,Karp [10]
;
Maggie,Campbell [9]
;
Sarah,Al-Qattan [4]
;
Andrew Y,Shuen [21]
;
Michal,Inbar-Feigenberg [4]
;
Ronald,Cohn [4]
;
Anna,Szuto [4]
;
Cara,Inglese [4]
;
Myriam,Poirier [14]
;
Lauren,Chad [4]
;
Beth,Potter [7]
;
Kym M,Boycott [12]
;
Robin,Hayeems [22]
;
Care4Rare Canada Consortium
作者单位:
Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada; University of Ottawa, Ottawa, Canada. Electronic address: thartley@cheo.on.ca.
[1]
University of Calgary, Calgary, Canada.
[2]
Hospital for Sick Children, Toronto, Canada.
[3]
Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada.
[4]
Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada; Children's Hospital of Eastern Ontario, Ottawa, Canada.
[5]
Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.
[6]
University of Ottawa, Ottawa, Canada; Ottawa Hospital Research Institute, Ottawa, Canada.
[7]
McMaster Children's Hospital, McMaster University, Hamilton, Canada.
[8]
Kingston Health Sciences Center, Queen's University, Kingston, Canada.
[9]
London Health Sciences Centre, Western University, London, Canada.
[10]
University of Toronto, Toronto, Canada.
[11]
Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada; University of Ottawa, Ottawa, Canada; Children's Hospital of Eastern Ontario, Ottawa, Canada.
[12]
University of Ottawa, Ottawa, Canada; Children's Hospital of Eastern Ontario, Ottawa, Canada.
[13]
Children's Hospital of Eastern Ontario, Ottawa, Canada.
[14]
Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada; University of Ottawa, Ottawa, Canada.
[15]
Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada; The Ottawa Hospital, Ottawa, Canada.
[16]
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.
[17]
University of Ottawa, Ottawa, Canada; Children's Hospital of Eastern Ontario, Ottawa, Canada; Kingston Health Sciences Center, Queen's University, Kingston, Canada.
[18]
University of Toronto, Toronto, Canada; University of Toronto, Toronto, Canada.
[19]
University of Calgary, Calgary, Canada; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada; The Ottawa Hospital, Ottawa, Canada.
[20]
University of Toronto, Toronto, Canada; McMaster Children's Hospital, McMaster University, Hamilton, Canada; London Health Sciences Centre, Western University, London, Canada.
[21]
Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada. Electronic address: robin.hayeems@sickkids.ca.
[22]
DOI
10.1016/j.gim.2023.101012
PMID
37924259
发布时间
2024-06-27
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Genetics in medicine
Genetics in medicine
101012页
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