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Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
Elliott, Alison M; Adam, Shelin; du Souich, Christèle; Lehman, Anna; Nelson, Tanya N; van Karnebeek, Clara; Alderman, Emily; Armstrong, Linlea; Aubertin, Gudrun; Blood, Katherine; Boelman, Cyrus; Boerkoel, Cornelius; Bretherick, Karla; Brown, Lindsay; Chijiwa, Chieko; Clarke, Lorne; Couse, Madeline; Creighton, Susan; Watts-Dickens, Abby; Gibson, William T; Gill, Harinder; Tarailo-Graovac, Maja; Hamilton, Sara; Heran, Harindar; Horvath, Gabriella; Huang, Lijia; Hulait, Gurdip K; Koehn, David; Lee, Hyun Kyung; Lewis, Suzanne; Lopez, Elena; Louie, Kristal; Niederhoffer, Karen; Matthews, Allison; Meagher, Kirsten; Peng, Junran J; Patel, Millan S; Race, Simone; Richmond, Phillip; Rupps, Rosemarie; Salvarinova, Ramona; Seath, Kimberly; Selby, Kathryn; Steinraths, Michelle; Stockler, Sylvia; Tang, Kaoru; Tyson, Christine; van Allen, Margot; Wasserman, Wyeth; Mwenifumbo, Jill.
Afiliación
  • Elliott AM; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
  • Adam S; BC Children's Hospital Research Institute, Vancouver, BC, Canada.
  • du Souich C; Women's Health Research Institute, Vancouver, BC, Canada.
  • Lehman A; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
  • Nelson TN; BC Children's Hospital Research Institute, Vancouver, BC, Canada.
  • van Karnebeek C; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
  • Alderman E; BC Children's Hospital Research Institute, Vancouver, BC, Canada.
  • Armstrong L; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
  • Aubertin G; BC Children's Hospital Research Institute, Vancouver, BC, Canada.
  • Blood K; Division of Genome Diagnostics, Department of Pathology and Laboratory Medicine, BC Children's and Women's Hospitals, Vancouver, BC, Canada.
  • Boelman C; Department of Pediatrics, Center for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC, Canada.
  • Boerkoel C; Department of Pediatrics, Emma Children's Hospital, Amsterdam, University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.
  • Bretherick K; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
  • Brown L; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
  • Chijiwa C; BC Children's Hospital Research Institute, Vancouver, BC, Canada.
  • Clarke L; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
  • Couse M; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
  • Creighton S; BC Children's Hospital Research Institute, Vancouver, BC, Canada.
  • Watts-Dickens A; Division of Neurology, Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada.
  • Gibson WT; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
  • Gill H; BC Children's Hospital Research Institute, Vancouver, BC, Canada.
  • Tarailo-Graovac M; Division of Genome Diagnostics, Department of Pathology and Laboratory Medicine, BC Children's and Women's Hospitals, Vancouver, BC, Canada.
  • Hamilton S; Division of Genome Diagnostics, Department of Pathology and Laboratory Medicine, BC Children's and Women's Hospitals, Vancouver, BC, Canada.
  • Heran H; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
  • Horvath G; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
  • Huang L; BC Children's Hospital Research Institute, Vancouver, BC, Canada.
  • Hulait GK; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
  • Koehn D; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
  • Lee HK; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
  • Lewis S; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
  • Lopez E; BC Children's Hospital Research Institute, Vancouver, BC, Canada.
  • Louie K; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
  • Niederhoffer K; BC Children's Hospital Research Institute, Vancouver, BC, Canada.
  • Matthews A; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
  • Meagher K; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
  • Peng JJ; BC Children's Hospital Research Institute, Vancouver, BC, Canada.
  • Patel MS; Division of Biochemical Diseases, Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada.
  • Race S; Division of Genome Diagnostics, Department of Pathology and Laboratory Medicine, BC Children's and Women's Hospitals, Vancouver, BC, Canada.
  • Richmond P; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
  • Rupps R; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
  • Salvarinova R; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
  • Seath K; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
  • Selby K; BC Children's Hospital Research Institute, Vancouver, BC, Canada.
  • Steinraths M; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
  • Stockler S; BC Children's Hospital Research Institute, Vancouver, BC, Canada.
  • Tang K; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
  • Tyson C; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
  • van Allen M; Division of Genome Diagnostics, Department of Pathology and Laboratory Medicine, BC Children's and Women's Hospitals, Vancouver, BC, Canada.
  • Wasserman W; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
  • Mwenifumbo J; BC Children's Hospital Research Institute, Vancouver, BC, Canada.
HGG Adv ; 3(3): 100108, 2022 Jul 14.
Article en En | MEDLINE | ID: mdl-35599849
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Texto completo: 1 Bases de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Etiology_studies Idioma: En Revista: HGG Adv Año: 2022 Tipo del documento: Article País de afiliación: Canadá
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Etiology_studies Idioma: En Revista: HGG Adv Año: 2022 Tipo del documento: Article País de afiliación: Canadá