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Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.
Lunke, Sebastian; Eggers, Stefanie; Wilson, Meredith; Patel, Chirag; Barnett, Christopher P; Pinner, Jason; Sandaradura, Sarah A; Buckley, Michael F; Krzesinski, Emma I; de Silva, Michelle G; Brett, Gemma R; Boggs, Kirsten; Mowat, David; Kirk, Edwin P; Adès, Lesley C; Akesson, Lauren S; Amor, David J; Ayres, Samantha; Baxendale, Anne; Borrie, Sarah; Bray, Alessandra; Brown, Natasha J; Chan, Cheng Yee; Chong, Belinda; Cliffe, Corrina; Delatycki, Martin B; Edwards, Matthew; Elakis, George; Fahey, Michael C; Fennell, Andrew; Fowles, Lindsay; Gallacher, Lyndon; Higgins, Megan; Howell, Katherine B; Hunt, Lauren; Hunter, Matthew F; Jones, Kristi J; King, Sarah; Kumble, Smitha; Lang, Sarah; Le Moing, Maelle; Ma, Alan; Phelan, Dean; Quinn, Michael C J; Richards, Anna; Richmond, Christopher M; Riseley, Jessica; Rodgers, Jonathan; Sachdev, Rani; Sadedin, Simon.
Affiliation
  • Lunke S; Australian Genomics Health Alliance, Parkville, Australia.
  • Eggers S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
  • Wilson M; University of Melbourne, Melbourne, Australia.
  • Patel C; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
  • Barnett CP; Sydney Children's Hospitals Network-Westmead, Sydney, Australia.
  • Pinner J; University of Sydney, Sydney, Australia.
  • Sandaradura SA; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Australia.
  • Buckley MF; Women's and Children's Hospital, North Adelaide, Australia.
  • Krzesinski EI; Sydney Children's Hospitals Network-Randwick, Sydney, Australia.
  • de Silva MG; University of New South Wales, Sydney, Australia.
  • Brett GR; Sydney Children's Hospitals Network-Westmead, Sydney, Australia.
  • Boggs K; University of Sydney, Sydney, Australia.
  • Mowat D; NSW Health Pathology Randwick Genomics Laboratory, Sydney, Australia.
  • Kirk EP; Monash Genetics, Monash Health, Melbourne, Australia.
  • Adès LC; Department of Paediatrics, Monash University, Melbourne, Australia.
  • Akesson LS; Australian Genomics Health Alliance, Parkville, Australia.
  • Amor DJ; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
  • Ayres S; University of Melbourne, Melbourne, Australia.
  • Baxendale A; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
  • Borrie S; University of Melbourne, Melbourne, Australia.
  • Bray A; Australian Genomics Health Alliance, Parkville, Australia.
  • Brown NJ; Sydney Children's Hospitals Network-Westmead, Sydney, Australia.
  • Chan CY; Sydney Children's Hospitals Network-Randwick, Sydney, Australia.
  • Chong B; Sydney Children's Hospitals Network-Randwick, Sydney, Australia.
  • Cliffe C; University of New South Wales, Sydney, Australia.
  • Delatycki MB; Sydney Children's Hospitals Network-Randwick, Sydney, Australia.
  • Edwards M; University of New South Wales, Sydney, Australia.
  • Elakis G; NSW Health Pathology Randwick Genomics Laboratory, Sydney, Australia.
  • Fahey MC; Sydney Children's Hospitals Network-Westmead, Sydney, Australia.
  • Fennell A; University of Sydney, Sydney, Australia.
  • Fowles L; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
  • Gallacher L; University of Melbourne, Melbourne, Australia.
  • Higgins M; Monash Genetics, Monash Health, Melbourne, Australia.
  • Howell KB; University of Melbourne, Melbourne, Australia.
  • Hunt L; Royal Children's Hospital, Melbourne, Australia.
  • Hunter MF; Murdoch Children's Research Institute, Melbourne, Australia.
  • Jones KJ; Australian Genomics Health Alliance, Parkville, Australia.
  • King S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
  • Kumble S; Women's and Children's Hospital, North Adelaide, Australia.
  • Lang S; Women's and Children's Hospital, North Adelaide, Australia.
  • Le Moing M; Australian Genomics Health Alliance, Parkville, Australia.
  • Ma A; Sydney Children's Hospitals Network-Westmead, Sydney, Australia.
  • Phelan D; Sydney Children's Hospitals Network-Randwick, Sydney, Australia.
  • Quinn MCJ; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
  • Richards A; University of Melbourne, Melbourne, Australia.
  • Richmond CM; NSW Health Pathology Randwick Genomics Laboratory, Sydney, Australia.
  • Riseley J; Neuroscience Research Australia, University of New South Wales, Sydney, Australia.
  • Rodgers J; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
  • Sachdev R; NSW Health Pathology Randwick Genomics Laboratory, Sydney, Australia.
  • Sadedin S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
JAMA ; 323(24): 2503-2511, 2020 06 23.
Article in En | MEDLINE | ID: mdl-32573669
Subject(s)
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Full text: 1 Database: MEDLINE Main subject: Genetic Testing / Critical Illness / Exome Sequencing / Genetic Diseases, Inborn Type of study: Clinical_trials / Diagnostic_studies / Observational_studies / Prognostic_studies / Sysrev_observational_studies Limits: Child / Child, preschool / Female / Humans / Infant / Male / Newborn Country/Region as subject: Oceania Language: En Journal: JAMA Year: 2020 Type: Article Affiliation country: Australia
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Database: MEDLINE Main subject: Genetic Testing / Critical Illness / Exome Sequencing / Genetic Diseases, Inborn Type of study: Clinical_trials / Diagnostic_studies / Observational_studies / Prognostic_studies / Sysrev_observational_studies Limits: Child / Child, preschool / Female / Humans / Infant / Male / Newborn Country/Region as subject: Oceania Language: En Journal: JAMA Year: 2020 Type: Article Affiliation country: Australia