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Integrated multi-omics for rapid rare disease diagnosis on a national scale.
Lunke, Sebastian; Bouffler, Sophie E; Patel, Chirag V; Sandaradura, Sarah A; Wilson, Meredith; Pinner, Jason; Hunter, Matthew F; Barnett, Christopher P; Wallis, Mathew; Kamien, Benjamin; Tan, Tiong Y; Freckmann, Mary-Louise; Chong, Belinda; Phelan, Dean; Francis, David; Kassahn, Karin S; Ha, Thuong; Gao, Song; Arts, Peer; Jackson, Matilda R; Scott, Hamish S; Eggers, Stefanie; Rowley, Simone; Boggs, Kirsten; Rakonjac, Ana; Brett, Gemma R; de Silva, Michelle G; Springer, Amanda; Ward, Michelle; Stallard, Kirsty; Simons, Cas; Conway, Thomas; Halman, Andreas; Van Bergen, Nicole J; Sikora, Tim; Semcesen, Liana N; Stroud, David A; Compton, Alison G; Thorburn, David R; Bell, Katrina M; Sadedin, Simon; North, Kathryn N; Christodoulou, John; Stark, Zornitza.
Afiliación
  • Lunke S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
  • Bouffler SE; Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Victoria, Australia.
  • Patel CV; Australian Genomics, Melbourne, Victoria, Australia.
  • Sandaradura SA; Australian Genomics, Melbourne, Victoria, Australia.
  • Wilson M; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.
  • Pinner J; Sydney Children's Hospitals Network - Westmead, Sydney, New South Wales, Australia.
  • Hunter MF; Children's Hospital Westmead Clinical School, University of Sydney, Sydney, New South Wales, Australia.
  • Barnett CP; Sydney Children's Hospitals Network - Westmead, Sydney, New South Wales, Australia.
  • Wallis M; Children's Hospital Westmead Clinical School, University of Sydney, Sydney, New South Wales, Australia.
  • Kamien B; Sydney Children's Hospitals Network - Randwick, Sydney, New South Wales, Australia.
  • Tan TY; Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia.
  • Freckmann ML; Monash Genetics, Monash Health, Melbourne, Victoria, Australia.
  • Chong B; Department of Paediatrics, Monash University, Melbourne, Victoria, Australia.
  • Phelan D; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, North Adelaide, South Australia, Australia.
  • Francis D; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.
  • Kassahn KS; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.
  • Ha T; Tasmanian Clinical Genetics Service, Tasmanian Health Service, Hobart, Tasmania, Australia.
  • Gao S; School of Medicine and Menzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, Australia.
  • Arts P; Genetic Services of Western Australia, Perth, Western Australia, Australia.
  • Jackson MR; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
  • Scott HS; Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Victoria, Australia.
  • Eggers S; Department of Clinical Genetics, The Canberra Hospital, Canberra, Australian Capital Territory, Australia.
  • Rowley S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
  • Boggs K; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
  • Rakonjac A; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
  • Brett GR; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.
  • de Silva MG; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.
  • Springer A; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.
  • Ward M; Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, South Australia.
  • Stallard K; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, South Australia, Australia.
  • Simons C; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.
  • Conway T; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.
  • Halman A; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.
  • Van Bergen NJ; Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, South Australia.
  • Sikora T; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, South Australia, Australia.
  • Semcesen LN; Australian Genomics, Melbourne, Victoria, Australia.
  • Stroud DA; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.
  • Compton AG; Australian Genomics, Melbourne, Victoria, Australia.
  • Thorburn DR; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.
  • Bell KM; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.
  • Sadedin S; Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, South Australia.
  • North KN; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, South Australia, Australia.
  • Christodoulou J; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
  • Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
Nat Med ; 29(7): 1681-1691, 2023 07.
Article en En | MEDLINE | ID: mdl-37291213
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Enfermedad Crítica / Enfermedades Raras Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child / Humans / Infant Idioma: En Revista: Nat Med Asunto de la revista: BIOLOGIA MOLECULAR / MEDICINA Año: 2023 Tipo del documento: Article País de afiliación: Australia
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Enfermedad Crítica / Enfermedades Raras Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child / Humans / Infant Idioma: En Revista: Nat Med Asunto de la revista: BIOLOGIA MOLECULAR / MEDICINA Año: 2023 Tipo del documento: Article País de afiliación: Australia