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Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.
Baynam, Gareth; Bowman, Faye; Lister, Karla; Walker, Caroline E; Pachter, Nicholas; Goldblatt, Jack; Boycott, Kym M; Gahl, William A; Kosaki, Kenjiro; Adachi, Takeya; Ishii, Ken; Mahede, Trinity; McKenzie, Fiona; Townshend, Sharron; Slee, Jennie; Kiraly-Borri, Cathy; Vasudevan, Anand; Hawkins, Anne; Broley, Stephanie; Schofield, Lyn; Verhoef, Hedwig; Groza, Tudor; Zankl, Andreas; Robinson, Peter N; Haendel, Melissa; Brudno, Michael; Mattick, John S; Dinger, Marcel E; Roscioli, Tony; Cowley, Mark J; Olry, Annie; Hanauer, Marc; Alkuraya, Fowzan S; Taruscio, Domenica; Posada de la Paz, Manuel; Lochmüller, Hanns; Bushby, Kate; Thompson, Rachel; Hedley, Victoria; Lasko, Paul; Mina, Kym; Beilby, John; Tifft, Cynthia; Davis, Mark; Laing, Nigel G; Julkowska, Daria; Le Cam, Yann; Terry, Sharon F; Kaufmann, Petra; Eerola, Iiro.
Afiliação
  • Baynam G; Genetic Services of Western Australia, King Edward Memorial Hospital, Subiaco, WA, Australia.
  • Bowman F; Western Australian Register of Developmental Anomalies, Subiaco, WA, Australia.
  • Lister K; Undiagnosed Diseases Program, Subiaco, WA, Australia.
  • Walker CE; Department of Health, Government of Western Australia, Office of Population Health Genomics, Public Health Division, Perth, WA, Australia.
  • Pachter N; Department of Health, Government of Western Australia, Office of Population Health Genomics, Public Health Division, Perth, WA, Australia.
  • Goldblatt J; Department of Health, Government of Western Australia, Office of Population Health Genomics, Public Health Division, Perth, WA, Australia.
  • Boycott KM; Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA, Australia.
  • Gahl WA; School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia.
  • Kosaki K; School of Medicine and Pharmacology, University of Western Australia, Perth, WA, Australia.
  • Adachi T; School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia.
  • Ishii K; Department of Health, Government of Western Australia, Genetic Services of Western Australia, Perth, WA, Australia.
  • Mahede T; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, ON K1H 8L1, Canada.
  • McKenzie F; Undiagnosed Diseases Program, Common Fund, National Institutes of Health, Rockville, MD, USA.
  • Townshend S; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.
  • Slee J; Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan.
  • Kiraly-Borri C; Japan Agency for Medical Research and Development, Tokyo, Japan.
  • Vasudevan A; Japan Agency for Medical Research and Development, Tokyo, Japan.
  • Hawkins A; Department of Health, Government of Western Australia, Office of Population Health Genomics, Public Health Division, Perth, WA, Australia.
  • Broley S; School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia.
  • Schofield L; Department of Health, Government of Western Australia, Genetic Services of Western Australia, Perth, WA, Australia.
  • Verhoef H; Department of Health, Government of Western Australia, Genetic Services of Western Australia, Perth, WA, Australia.
  • Groza T; Department of Health, Government of Western Australia, Genetic Services of Western Australia, Perth, WA, Australia.
  • Zankl A; Department of Health, Government of Western Australia, Genetic Services of Western Australia, Perth, WA, Australia.
  • Robinson PN; Department of Health, Government of Western Australia, Genetic Services of Western Australia, Perth, WA, Australia.
  • Haendel M; Department of Health, Government of Western Australia, Genetic Services of Western Australia, Perth, WA, Australia.
  • Brudno M; Department of Health, Government of Western Australia, Genetic Services of Western Australia, Perth, WA, Australia.
  • Mattick JS; Department of Health, Government of Western Australia, Genetic Services of Western Australia, Perth, WA, Australia.
  • Dinger ME; Spatial Sciences, Department of Science and Engineering, Curtin University, Perth, Western Australia, Australia.
  • Roscioli T; Cooperative Research Centre for Spatial Information, Melbourne, Western Australia, Australia.
  • Cowley MJ; Kinghorn Centre for Clinical Genomics, Garvan Institute for Medical Research, Darlinghurst, NSW, 2010, Australia.
  • Olry A; St. Vincent's Clinical School, Faculty of Medicine, University of New South Wales (UNSW), Sydney, NSW, 2052, Australia.
  • Hanauer M; Discipline of Genetic Medicine, Sydney Medical School, The University of Sydney, Sydney, Australia.
  • Alkuraya FS; Academic Department of Medical Genetics, Sydney Childrens Hospitals Network (Westmead), Westmead, Australia.
  • Taruscio D; The Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA.
  • Posada de la Paz M; Institute for Systems Genomics, University of Connecticut, Farmington, CT, 06032, USA.
  • Lochmüller H; Library and Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, OR, 97239, USA.
  • Bushby K; Department of Computer Science, University of Toronto, Toronto, ON, M5S 2E4, Canada.
  • Thompson R; Centre for Computational Medicine and Genetics and Genome Biology Program, Hospital for Sick Children, Toronto, ON, M5G 1L7, Canada.
  • Hedley V; Kinghorn Centre for Clinical Genomics, Garvan Institute for Medical Research, Darlinghurst, NSW, 2010, Australia.
  • Lasko P; St. Vincent's Clinical School, Faculty of Medicine, University of New South Wales (UNSW), Sydney, NSW, 2052, Australia.
  • Mina K; Kinghorn Centre for Clinical Genomics, Garvan Institute for Medical Research, Darlinghurst, NSW, 2010, Australia.
  • Beilby J; St. Vincent's Clinical School, Faculty of Medicine, University of New South Wales (UNSW), Sydney, NSW, 2052, Australia.
  • Tifft C; Kinghorn Centre for Clinical Genomics, Garvan Institute for Medical Research, Darlinghurst, NSW, 2010, Australia.
  • Davis M; St. Vincent's Clinical School, Faculty of Medicine, University of New South Wales (UNSW), Sydney, NSW, 2052, Australia.
  • Laing NG; Kinghorn Centre for Clinical Genomics, Garvan Institute for Medical Research, Darlinghurst, NSW, 2010, Australia.
  • Julkowska D; St. Vincent's Clinical School, Faculty of Medicine, University of New South Wales (UNSW), Sydney, NSW, 2052, Australia.
  • Le Cam Y; INSERM, US14, Paris, France.
  • Terry SF; INSERM, US14, Paris, France.
  • Kaufmann P; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Eerola I; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Adv Exp Med Biol ; 1031: 55-94, 2017.
Article em En | MEDLINE | ID: mdl-29214566
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Saúde Pública / Genômica / Doenças Raras / Medicina de Precisão / Política de Saúde Tipo de estudo: Diagnostic_studies / Evaluation_studies / Guideline / Prognostic_studies / Screening_studies Limite: Humans Idioma: En Revista: Adv Exp Med Biol Ano de publicação: 2017 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: Saúde Pública / Genômica / Doenças Raras / Medicina de Precisão / Política de Saúde Tipo de estudo: Diagnostic_studies / Evaluation_studies / Guideline / Prognostic_studies / Screening_studies Limite: Humans Idioma: En Revista: Adv Exp Med Biol Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Austrália