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Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine.
Stavropoulos, Dimitri J; Merico, Daniele; Jobling, Rebekah; Bowdin, Sarah; Monfared, Nasim; Thiruvahindrapuram, Bhooma; Nalpathamkalam, Thomas; Pellecchia, Giovanna; Yuen, Ryan K C; Szego, Michael J; Hayeems, Robin Z; Shaul, Randi Zlotnik; Brudno, Michael; Girdea, Marta; Frey, Brendan; Alipanahi, Babak; Ahmed, Sohnee; Babul-Hirji, Riyana; Porras, Ramses Badilla; Carter, Melissa T; Chad, Lauren; Chaudhry, Ayeshah; Chitayat, David; Doust, Soghra Jougheh; Cytrynbaum, Cheryl; Dupuis, Lucie; Ejaz, Resham; Fishman, Leona; Guerin, Andrea; Hashemi, Bita; Helal, Mayada; Hewson, Stacy; Inbar-Feigenberg, Michal; Kannu, Peter; Karp, Natalya; Kim, Raymond; Kronick, Jonathan; Liston, Eriskay; MacDonald, Heather; Mercimek-Mahmutoglu, Saadet; Mendoza-Londono, Roberto; Nasr, Enas; Nimmo, Graeme; Parkinson, Nicole; Quercia, Nada; Raiman, Julian; Roifman, Maian; Schulze, Andreas; Shugar, Andrea; Shuman, Cheryl.
Affiliation
  • Stavropoulos DJ; Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Merico D; Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
  • Jobling R; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Bowdin S; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Monfared N; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Thiruvahindrapuram B; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Nalpathamkalam T; Centre for Genetic Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Pellecchia G; Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada.
  • Yuen RKC; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Szego MJ; Centre for Genetic Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Hayeems RZ; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Shaul RZ; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Brudno M; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Girdea M; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Frey B; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Alipanahi B; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Ahmed S; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Babul-Hirji R; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Porras RB; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Carter MT; Joint Centre for Bioethics, University of Toronto, Toronto, Ontario, Canada.
  • Chad L; Department of Family and Community Medicine and Clinical Public Health Division, University of Toronto, Toronto, Ontario, Canada.
  • Chaudhry A; Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Chitayat D; Joint Centre for Bioethics, University of Toronto, Toronto, Ontario, Canada.
  • Doust SJ; Department of Bioethics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Cytrynbaum C; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Dupuis L; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Ejaz R; Department of Computer Science, University of Toronto, Toronto, Ontario, Canada.
  • Fishman L; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Guerin A; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Hashemi B; Department of Computer Science, University of Toronto, Toronto, Ontario, Canada.
  • Helal M; Department of Electrical and Computer Engineering and Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, Ontario, Canada.
  • Hewson S; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
  • Inbar-Feigenberg M; Department of Electrical and Computer Engineering and Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, Ontario, Canada.
  • Kannu P; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Karp N; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Kim R; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Kronick J; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
  • Liston E; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • MacDonald H; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Mercimek-Mahmutoglu S; Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada.
  • Mendoza-Londono R; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Nasr E; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Nimmo G; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Parkinson N; Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada.
  • Quercia N; Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, Toronto, ON, Canada.
  • Raiman J; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Roifman M; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Schulze A; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Shugar A; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
  • Shuman C; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
NPJ Genom Med ; 12016 Jan 13.
Article in En | MEDLINE | ID: mdl-28567303
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Language: En Journal: NPJ Genom Med Year: 2016 Document type: Article Affiliation country: Canadá Country of publication: Reino Unido
Fulltext
Add to My VHL
Print
XML
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Language: En Journal: NPJ Genom Med Year: 2016 Document type: Article Affiliation country: Canadá Country of publication: Reino Unido