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Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing.
Mallawaarachchi, Amali C; Lundie, Ben; Hort, Yvonne; Schonrock, Nicole; Senum, Sarah R; Gayevskiy, Velimir; Minoche, Andre E; Hollway, Georgina; Ohnesorg, Thomas; Hinchcliffe, Marcus; Patel, Chirag; Tchan, Michel; Mallett, Andrew; Dinger, Marcel E; Rangan, Gopala; Cowley, Mark J; Harris, Peter C; Burnett, Leslie; Shine, John; Furlong, Timothy J.
Afiliação
  • Mallawaarachchi AC; Division of Genomics and Epigenetics, Garvan Institute of Medical Research, Sydney, NSW, Australia. a.mallawaarachchi@garvan.org.au.
  • Lundie B; Department of Medical Genomics, Royal Prince Alfred Hospital, Sydney, NSW, Australia. a.mallawaarachchi@garvan.org.au.
  • Hort Y; Genome.One, Sydney, NSW, Australia. a.mallawaarachchi@garvan.org.au.
  • Schonrock N; Genome.One, Sydney, NSW, Australia.
  • Senum SR; Division of Genomics and Epigenetics, Garvan Institute of Medical Research, Sydney, NSW, Australia.
  • Gayevskiy V; Genome.One, Sydney, NSW, Australia.
  • Minoche AE; Garvan Institute of Medical Research, Sydney, NSW, Australia.
  • Hollway G; St Vincent's Hospital Clinical School, University of New South Wales, Sydney, NSW, Australia.
  • Ohnesorg T; Division of Nephrology and Hypertension, The Mayo Clinic, Rochester, MN, USA.
  • Hinchcliffe M; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia.
  • Patel C; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia.
  • Tchan M; Genome.One, Sydney, NSW, Australia.
  • Mallett A; Garvan Institute of Medical Research, Sydney, NSW, Australia.
  • Dinger ME; St Vincent's Hospital Clinical School, University of New South Wales, Sydney, NSW, Australia.
  • Rangan G; Genome.One, Sydney, NSW, Australia.
  • Cowley MJ; Genome.One, Sydney, NSW, Australia.
  • Harris PC; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia.
  • Burnett L; Department of Genetic Medicine, Westmead Hospital, Sydney, NSW, Australia.
  • Shine J; Sydney Medical School, The University of Sydney, Sydney, NSW, Australia.
  • Furlong TJ; Kidney Health Service, Royal Brisbane and Women's Hospital, Herston, QLD, Australia.
Eur J Hum Genet ; 29(5): 760-770, 2021 05.
Article em En | MEDLINE | ID: mdl-33437033
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Testes Genéticos / Sequenciamento Completo do Genoma / Frequência do Gene / Doenças Renais Policísticas Tipo de estudo: Clinical_trials / Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Austrália
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Testes Genéticos / Sequenciamento Completo do Genoma / Frequência do Gene / Doenças Renais Policísticas Tipo de estudo: Clinical_trials / Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Austrália