Your browser doesn't support javascript.
loading
Clinically Responsive Genomic Analysis Pipelines: Elements to Improve Detection Rate and Efficiency.
Sundercombe, Samantha Leigh; Berbic, Marina; Evans, Carey-Anne; Cliffe, Corrina; Elakis, George; Temple, Suzanna E L; Selvanathan, Arthavan; Ewans, Lisa; Quayum, Nila; Nixon, Cheng-Yee; Dias, Kerith-Rae; Lang, Sarah; Richards, Anna; Goh, Shuxiang; Wilson, Meredith; Mowat, David; Sachdev, Rani; Sandaradura, Sarah; Walsh, Maie; Farrar, Michelle A; Walsh, Rebecca; Fletcher, Janice; Kirk, Edwin P; Teunisse, Guus M; Schofield, Deborah; Buckley, Michael Francis; Zhu, Ying; Roscioli, Tony.
Afiliação
  • Sundercombe SL; NSW Health Pathology Randwick Genomics, Prince of Wales Hospital, Randwick, New South Wales, Australia. Electronic address: samantha.sundercombe@health.nsw.gov.au.
  • Berbic M; NSW Health Pathology Randwick Genomics, Prince of Wales Hospital, Randwick, New South Wales, Australia; School of Women's and Children's Health, University of New South Wales Sydney, Kensington, New South Wales, Australia.
  • Evans CA; Neuroscience Research Australia (NeuRA), Randwick, New South Wales, Australia.
  • Cliffe C; NSW Health Pathology Randwick Genomics, Prince of Wales Hospital, Randwick, New South Wales, Australia.
  • Elakis G; NSW Health Pathology Randwick Genomics, Prince of Wales Hospital, Randwick, New South Wales, Australia.
  • Temple SEL; NSW Health Pathology Randwick Genomics, Prince of Wales Hospital, Randwick, New South Wales, Australia; Neuroscience Research Australia (NeuRA), Randwick, New South Wales, Australia; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, Randwick, New South Wales, Australia.
  • Selvanathan A; NSW Health Pathology Randwick Genomics, Prince of Wales Hospital, Randwick, New South Wales, Australia; Neuroscience Research Australia (NeuRA), Randwick, New South Wales, Australia; Discipline of Child and Adolescent Health, The University of Sydney, New South Wales, Australia.
  • Ewans L; Department of Medical Genomics, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia; Central Clinical School, Sydney Medical School, The University of Sydney, New South Wales, Australia.
  • Quayum N; NSW Health Pathology Randwick Genomics, Prince of Wales Hospital, Randwick, New South Wales, Australia.
  • Nixon CY; NSW Health Pathology Randwick Genomics, Prince of Wales Hospital, Randwick, New South Wales, Australia; Neuroscience Research Australia (NeuRA), Randwick, New South Wales, Australia.
  • Dias KR; Neuroscience Research Australia (NeuRA), Randwick, New South Wales, Australia; Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales Sydney, Kensington, New South Wales, Australia.
  • Lang S; NSW Health Pathology Randwick Genomics, Prince of Wales Hospital, Randwick, New South Wales, Australia.
  • Richards A; NSW Health Pathology Randwick Genomics, Prince of Wales Hospital, Randwick, New South Wales, Australia.
  • Goh S; NSW Health Pathology Randwick Genomics, Prince of Wales Hospital, Randwick, New South Wales, Australia; Neuroscience Research Australia (NeuRA), Randwick, New South Wales, Australia.
  • Wilson M; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, Westmead, New South Wales, Australia.
  • Mowat D; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, Randwick, New South Wales, Australia.
  • Sachdev R; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, Randwick, New South Wales, Australia.
  • Sandaradura S; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, Westmead, New South Wales, Australia.
  • Walsh M; Genetic Medicine Department, Royal Melbourne Hospital, Parkville, Victoria, Australia.
  • Farrar MA; School of Women's and Children's Health, University of New South Wales Sydney, Kensington, New South Wales, Australia; Neurology Department, Sydney Children's Hospital, Sydney, Randwick, New South Wales, Australia.
  • Walsh R; NSW Health Pathology Randwick Genomics, Prince of Wales Hospital, Randwick, New South Wales, Australia.
  • Fletcher J; NSW Health Pathology Randwick Genomics, Prince of Wales Hospital, Randwick, New South Wales, Australia.
  • Kirk EP; NSW Health Pathology Randwick Genomics, Prince of Wales Hospital, Randwick, New South Wales, Australia; School of Women's and Children's Health, University of New South Wales Sydney, Kensington, New South Wales, Australia; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, Randwick, N
  • Teunisse GM; Neuroscience Research Australia (NeuRA), Randwick, New South Wales, Australia.
  • Schofield D; Centre for Economic Impacts of Genomic Medicine, Macquarie Business School, Macquarie University, Macquarie Park, New South Wales, Australia.
  • Buckley MF; NSW Health Pathology Randwick Genomics, Prince of Wales Hospital, Randwick, New South Wales, Australia.
  • Zhu Y; NSW Health Pathology Randwick Genomics, Prince of Wales Hospital, Randwick, New South Wales, Australia; Neuroscience Research Australia (NeuRA), Randwick, New South Wales, Australia; Genetics of Learning Disability Service, Hunter Genetics, Waratah Newcastle, New South Wales, Australia.
  • Roscioli T; NSW Health Pathology Randwick Genomics, Prince of Wales Hospital, Randwick, New South Wales, Australia; Neuroscience Research Australia (NeuRA), Randwick, New South Wales, Australia; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, Randwick, New South Wales, Australia. Electronic ad
J Mol Diagn ; 23(7): 894-905, 2021 07.
Article em En | MEDLINE | ID: mdl-33962052
Assuntos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Testes Genéticos / Mutação em Linhagem Germinativa / Genômica / Sequenciamento de Nucleotídeos em Larga Escala / Sequenciamento do Exoma / Doenças Genéticas Inatas Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Testes Genéticos / Mutação em Linhagem Germinativa / Genômica / Sequenciamento de Nucleotídeos em Larga Escala / Sequenciamento do Exoma / Doenças Genéticas Inatas Idioma: En Ano de publicação: 2021 Tipo de documento: Article