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Two-step offer and return of multiple types of additional genomic findings to families after ultrarapid trio genomic testing in the acute care setting: a study protocol.
Bouffler, Sophie E; Lee, Ling; Lynch, Fiona; Martyn, Melissa; Lynch, Elly; Macciocca, Ivan; Curnow, Lisette; McCorkell, Giulia; Lunke, Sebastian; Chong, Belinda; Marum, Justine E; Delatycki, Martin; Downie, Lilian; Goranitis, Ilias; Vears, Danya F; Best, Stephanie; Clausen, Marc; Bombard, Yvonne; Stark, Zornitza; Gaff, Clara L.
Afiliação
  • Bouffler SE; Australian Genomics Health Alliance, Parkville, Victoria, Australia.
  • Lee L; Melbourne Genomics Health Alliance, Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.
  • Lynch F; Murdoch Children's Research Institute, Parkville, Victoria, Australia.
  • Martyn M; Murdoch Children's Research Institute, Parkville, Victoria, Australia.
  • Lynch E; Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Melbourne, Victoria, Australia.
  • Macciocca I; Melbourne Genomics Health Alliance, Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.
  • Curnow L; Murdoch Children's Research Institute, Parkville, Victoria, Australia.
  • McCorkell G; Melbourne Genomics Health Alliance, Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.
  • Lunke S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
  • Chong B; Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Melbourne, Victoria, Australia.
  • Marum JE; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
  • Delatycki M; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
  • Downie L; Australian Genomics Health Alliance, Parkville, Victoria, Australia.
  • Goranitis I; Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Melbourne, Victoria, Australia.
  • Vears DF; Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Melbourne, Victoria, Australia.
  • Best S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
  • Clausen M; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
  • Bombard Y; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
  • Stark Z; Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Melbourne, Victoria, Australia.
  • Gaff CL; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
BMJ Open ; 13(6): e072999, 2023 06 02.
Article em En | MEDLINE | ID: mdl-37270192
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Genômica / Aconselhamento Genético Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies / Qualitative_research Limite: Adult / Child / Humans País como assunto: Oceania Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Genômica / Aconselhamento Genético Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies / Qualitative_research Limite: Adult / Child / Humans País como assunto: Oceania Idioma: En Ano de publicação: 2023 Tipo de documento: Article