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Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis.
Ewans, Lisa J; Minoche, Andre E; Schofield, Deborah; Shrestha, Rupendra; Puttick, Clare; Zhu, Ying; Drew, Alexander; Gayevskiy, Velimir; Elakis, George; Walsh, Corrina; Adès, Lesley C; Colley, Alison; Ellaway, Carolyn; Evans, Carey-Anne; Freckmann, Mary-Louise; Goodwin, Linda; Hackett, Anna; Kamien, Benjamin; Kirk, Edwin P; Lipke, Michelle; Mowat, David; Palmer, Elizabeth; Rajagopalan, Sulekha; Ronan, Anne; Sachdev, Rani; Stevenson, William; Turner, Anne; Wilson, Meredith; Worgan, Lisa; Morel-Kopp, Marie-Christine; Field, Michael; Buckley, Michael F; Cowley, Mark J; Dinger, Marcel E; Roscioli, Tony.
Affiliation
  • Ewans LJ; St Vincent's Clinical School, University of New South Wales, Sydney, NSW, Australia. lisa.ewans@gmail.com.
  • Minoche AE; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia. lisa.ewans@gmail.com.
  • Schofield D; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia. lisa.ewans@gmail.com.
  • Shrestha R; St Vincent's Clinical School, University of New South Wales, Sydney, NSW, Australia.
  • Puttick C; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia.
  • Zhu Y; Centre for Economic Impacts of Genomic Medicine, Macquarie Business School, Macquarie University, Sydney, NSW, Australia.
  • Drew A; Centre for Economic Impacts of Genomic Medicine, Macquarie Business School, Macquarie University, Sydney, NSW, Australia.
  • Gayevskiy V; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia.
  • Elakis G; The Genetics of Learning Disability Service, Newcastle, NSW, Australia.
  • Walsh C; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia.
  • Adès LC; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia.
  • Colley A; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia.
  • Ellaway C; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia.
  • Evans CA; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia.
  • Freckmann ML; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, NSW, Australia.
  • Goodwin L; Disciplines of Child and Adolescent Health and Genomic Medicine, University of Sydney, Sydney, NSW, Australia.
  • Hackett A; Clinical Genetics Department, Liverpool Hospital, Sydney, NSW, Australia.
  • Kamien B; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia.
  • Kirk EP; Disciplines of Child and Adolescent Health and Genomic Medicine, University of Sydney, Sydney, NSW, Australia.
  • Lipke M; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia.
  • Mowat D; Neuroscience Research Australia (NeuRA) and Prince of Wales Clinical School, UNSW, Sydney, Australia.
  • Palmer E; Clinical Genetics, Royal North Shore Hospital, Sydney, NSW, Australia.
  • Rajagopalan S; Genetics Services, Nepean Hospital, Sydney, NSW, Australia.
  • Ronan A; The Genetics of Learning Disability Service, Newcastle, NSW, Australia.
  • Sachdev R; Hunter Genetics, Newcastle, NSW, Australia.
  • Stevenson W; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia.
  • Turner A; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia.
  • Wilson M; School of Women's and Children's Health, University of New South Wales, Sydney, Australia.
  • Worgan L; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia.
  • Morel-Kopp MC; Queensland Children's Hospital, Brisbane, QLD, Australia.
  • Field M; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia.
  • Buckley MF; School of Women's and Children's Health, University of New South Wales, Sydney, Australia.
  • Cowley MJ; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia.
  • Dinger ME; The Genetics of Learning Disability Service, Newcastle, NSW, Australia.
  • Roscioli T; School of Women's and Children's Health, University of New South Wales, Sydney, Australia.
Eur J Hum Genet ; 30(10): 1121-1131, 2022 10.
Article de En | MEDLINE | ID: mdl-35970915
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Exome Type d'étude: Diagnostic_studies / Health_economic_evaluation Limites: Humans Langue: En Journal: Eur J Hum Genet Sujet du journal: GENETICA MEDICA Année: 2022 Type de document: Article Pays d'affiliation: Australie
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Exome Type d'étude: Diagnostic_studies / Health_economic_evaluation Limites: Humans Langue: En Journal: Eur J Hum Genet Sujet du journal: GENETICA MEDICA Année: 2022 Type de document: Article Pays d'affiliation: Australie