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Genetics in Medicine, ISSN 1098-3600, 04/2018, Volume 20, Issue 4, pp. 435 - 443
Purpose: Genetic testing is an integral diagnostic component of pediatric medicine. Standard of care is often a time-consuming stepwise approach involving... 
diagnostics | copy number variation | next-generation sequencing | noncoding | whole-genome sequencing | SUCCESS | VARIANTS | MENDELIAN DISORDERS | AMERICAN-COLLEGE | MEDICAL GENETICS | IDENTIFICATION | INFANTS | GENETICS & HEREDITY | CAUSE INTELLECTUAL DISABILITY | MUTATIONS | CLINICAL EXOME | Pediatrics | Genes | Genomes | Original
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 04/2018, Volume 26, Issue 4, pp. 473 - 474
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 11/2015, Volume 52, Issue Suppl 2, p. A11
BackgroundThe implementation of next generation sequencing technology (NGS) in a molecular diagnostics laboratory has resulted in a major transformation in... 
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 11/2015, Volume 52, Issue Suppl 2, pp. A11 - A11
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2017, Volume 100, Issue 5, pp. 773 - 788
Journal Article
Journal of Pediatric Genetics, ISSN 2146-4596, 03/2017, Volume 6, Issue 1, pp. 003 - 017
Abstract Imprinted genes are expressed in a parent of origin manner. Dysregulation of imprinted genes expression causes various disorders associated with... 
Review Article | DNA methylation | Review | genomic imprinting | epigenetics
Journal Article
npj Genomic Medicine, ISSN 2056-7944, 12/2017, Volume 2, Issue 1, pp. 19 - 8
Whole-genome sequencing and whole-exome sequencing have proven valuable for diagnosing inherited diseases, particularly in children. However, usage of... 
CYP2C19 GENOTYPES | IMPLEMENTATION CONSORTIUM GUIDELINES | THERAPY | CYP2D6 | GENETICS & HEREDITY | 2014 UPDATE | INDIVIDUALIZED MEDICINE | DNA REFERENCE MATERIALS | PHENOTYPE PREDICTION | CPIC GUIDELINES | COLLABORATIVE-PROJECT | Pediatrics | Genomes
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 11/2015, Volume 52, Issue Suppl 2, pp. A11 - A11
BackgroundThe rapid pace of innovation within the era of genomic sequencing has provided unprecedented insights into the genetic basis of human disease.... 
Journal Article
by Lebo, Matthew S and Zakoor, Kathleen-Rose and Chun, Kathy and Speevak, Marsha D and Waye, John S and McCready, Elizabeth and Parboosingh, Jillian S and Lamont, Ryan E and Feilotter, Harriet and Bosdet, Ian and Tucker, Tracy and Young, Sean and Karsan, Aly and Charames, George S and Agatep, Ronald and Spriggs, Elizabeth L and Chisholm, Caitlin and Vasli, Nasim and Daoud, Hussein and Jarinova, Olga and Tomaszewski, Robert and Hume, Stacey and Taylor, Sherryl and Akbari, Mohammad R and Lerner-Ellis, Jordan and Ainsworth, Peter and Aronson, Melyssa and Basran, Raveen and Blavier, Andre and Blumenthal, Andrea and Boycott, Kym and Brudno, Michael and Buckley, Kathleen and Campbell, Jodi and Campeau, Philippe M and Care, Melanie and Carson, Nancy and Carter, Ronald and Chitayat, David and Chong, George and Chouinard, Edmond and Craddock, Kenneth J and Docking, Rod and Eisen, Andrea and Faghfoury, Hanna and Farrell, Sandra and Fernandez, Bridget and Fiume, Marc and Forster-Gibson, Cynthia and Friedman, Jan and Foulkes, William and Goodhand, Peter and Gu, Jessica and Hegele, Robert and Holter, Spring and Horsburgh, Sheri and Hughes, Lauren and Jewett, Franny and Junker, Anne and Khalouei, Sam and Knoll, Joan and Kolomeitz, Elena and Knoppers, Bartha and Maire, Georges and Marshall, Christian and Mitchell, Grant and Moorhouse, Michael J and Morel, Chantal and Nelson, Tanya and Noor, Abdul and O'Connor, Brian and O'Rielly, Darren and Ouellette, Francis and Racher, Hilary and Ray, Peter and Rehm, Heidi and Riddell, Christie and Riviere, Jean-Baptiste and Rosenblatt, David S and Rouleau, Guy and Ruchon, Andrea and Sabatini, Peter and Sadikovic, Bekim and Semotiuk, Kara and Scherer, Stephen W and Shuman, Cheryl and Silver, Josh and Siminovitch, Katherine and Solomon-Izsak, Lesley and Soucy, Jean-Francois and Stavropoulos, James and Stein, Lincoln and Tannenbaum, Rhonda and Terespolsky, Deborah and Wintle, Richard F and Wong, Beatrix and Wong, Nora and Wang, Marina and Watkins, Nicholas and White, Shana and ... and Canadian Open Genetics Repository and Canadian Open Genetics Repository Working Group and the Canadian Open Genetics Repository Working Group
Genetics in Medicine, ISSN 1098-3600, 03/2018, Volume 20, Issue 3, pp. 294 - 302
Purpose: The purpose of this study was to develop a national program for Canadian diagnostic laboratories to compare DNA-variant interpretations and resolve... 
breast cancer | BRCA1 | BRCA2 | variant interpretation and classification | data sharing | GUIDELINES | STANDARDS | DATABASES | GENOMICS | RECOMMENDATIONS | GENETICS & HEREDITY | LABORATORIES | CLINICAL-SIGNIFICANCE | RESOURCE | Laboratories
Journal Article
Annals of Clinical and Translational Neurology, ISSN 2328-9503, 01/2016, Volume 3, Issue 1, pp. 55 - 60
The precise genetic cause remains elusive in nearly 50% of patients with presumed neurogenetic disease, representing a significant barrier for clinical care.... 
EXOME | NEUROSCIENCES | CLINICAL NEUROLOGY
Journal Article