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Long-read genome sequencing resolves a complex 13q structural variant associated with syndromic anophthalmia.
Boerkoel, Pierre K; Dixon, Katherine; Fitzsimons, Carrie; Shen, Yaoqing; Huynh, Stephanie; Schlade-Bartusiak, Kamilla; Culibrk, Luka; Chan, Simon; Boerkoel, Cornelius F; Jones, Steven J M; Chin, Hui-Lin.
Afiliación
  • Boerkoel PK; MD Undergraduate Program, University of British Columbia, Vancouver, British Columbia, Canada.
  • Dixon K; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
  • Fitzsimons C; Canada's Michael Smith Genome Sciences Centre, BC Cancer, Vancouver, British Columbia, Canada.
  • Shen Y; Kooteney Lake Hospital, Nelson, British Columbia, Canada.
  • Huynh S; Canada's Michael Smith Genome Sciences Centre, BC Cancer, Vancouver, British Columbia, Canada.
  • Schlade-Bartusiak K; Provincial Medical Genetics Program, Women's Hospital of British Columbia, Vancouver, British Columbia, Canada.
  • Culibrk L; Department of Pathology, BC Children's Hospital, BC Women's Hospital & Health Centre, Vancouver, British Columbia, Canada.
  • Chan S; Canada's Michael Smith Genome Sciences Centre, BC Cancer, Vancouver, British Columbia, Canada.
  • Boerkoel CF; Canada's Michael Smith Genome Sciences Centre, BC Cancer, Vancouver, British Columbia, Canada.
  • Jones SJM; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
  • Chin HL; Provincial Medical Genetics Program, Women's Hospital of British Columbia, Vancouver, British Columbia, Canada.
Am J Med Genet A ; 188(5): 1589-1594, 2022 05.
Article en En | MEDLINE | ID: mdl-35122461
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Anoftalmos / Coloboma / Microftalmía Tipo de estudio: Diagnostic_studies / Risk_factors_studies Límite: Humans / Newborn Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Canadá
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Anoftalmos / Coloboma / Microftalmía Tipo de estudio: Diagnostic_studies / Risk_factors_studies Límite: Humans / Newborn Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Canadá