换一批Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
作者：
Lionel, Anath C. [1]
;
Costain, Gregory [2]
;
Monfared, Nasim [3]
;
Walker, Susan [4]
;
Reuter, Miriam S. [5]
;
Hosseini, S. Mohsen [6]
;
Thiruvahindrapuram, Bhooma [7]
;
Merico, Daniele [8]
;
Jobling, Rebekah [9]
;
Nalpathamkalam, Thomas [10]
;
Pellecchia, Giovanna [11]
;
Sung, Wilson W. L. [12]
;
Wang, Zhuozhi [13]
;
Bikangaga, Peter [14]
;
Boelman, Cyrus [15]
;
Carter, Melissa T. [16]
;
Cordeiro, Dawn [17]
;
Cytrynbaum, Cheryl ;
Dell, Sharon D. ;
Dhir, Priya ;
Dowling, James J. ;
Heon, Elise ;
Hewson, Stacy ;
Hiraki, Linda ;
Inbar-Feigenberg, Michal ;
Klatt, Regan ;
Kronick, Jonathan ;
Laxer, Ronald M. ;
Licht, Christoph ;
MacDonald, Heather ;
Mercimek-Andrews, Saadet ;
Mendoza-Londono, Roberto ;
Piscione, Tino ;
Schneider, Rayfel ;
Schulze, Andreas ;
Silverman, Earl ;
Siriwardena, Komudi ;
Snead, O. Carter ;
Sondheimer, Neal ;
Sutherland, Joanne ;
Vincent, Ajoy ;
Wasserman, Jonathan D. ;
Weksberg, Rosanna ;
Shuman, Cheryl ;
Carew, Chris ;
Szego, Michael J. ;
Hayeems, Robin Z. ;
Basran, Raveen ;
Stavropoulos, Dimitri J. ;
Ray, Peter N. ;
Bowdin, Sarah ;
Meyn, M. Stephen ;
Cohn, Ronald D. ;
Scherer, Stephen W. ;
Marshall, Christian R.
作者单位：
Univ Toronto, Dept Paediat, Toronto, ON, Canada
[1]
Hosp Sick Children, Program Genet & Genome Biol, Toronto, ON, Canada
[2]
Hosp Sick Children, Div Neurol, Toronto, ON, Canada
[3]
BC Childrens Hosp, Div Neurol, Vancouver, BC, Canada
[4]
Childrens Hosp Eastern Ontario, Reg Genet Program, Ottawa, ON, Canada
[5]
Hosp Sick Children, Dept Paediat Lab Med, Genome Diagnost, Toronto, ON, Canada
[6]
Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, Canada
[7]
Hosp Sick Children, Div Resp Med, Toronto, ON, Canada
[8]
Hosp Sick Children, Child Hlth Evaluat Sci, Toronto, ON, Canada
[9]
Univ Alberta, Dept Med Genet, Edmonton, AB, Canada
[10]
William Osler Hlth Ctr, Brampton, ON, Canada
[11]
Hosp Sick Children, Cardiac Genome Clin, Ted Rogers Ctr Heart Res, Toronto, ON, Canada
[12]
Hosp Sick Children, Department Ophthalmol & Vis Sci, Toronto, ON, Canada
[13]
St Josephs Hlth Ctr, Ctr Clin Eth, Toronto, ON, Canada
[14]
Univ Toronto, Dept Mol Genet, Toronto, ON, Canada
[15]
Hosp Sick Children, Ctr Genet Med, Toronto, ON, Canada
[16]
Hosp Sick Children, Ctr Appl Genom, Toronto, ON, Canada
[17]
发布时间
2019-01-13
- 浏览18
Genetics in medicine
Genetics in medicine
435-443页
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