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International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.
Boycott, Kym M; Rath, Ana; Chong, Jessica X; Hartley, Taila; Alkuraya, Fowzan S; Baynam, Gareth; Brookes, Anthony J; Brudno, Michael; Carracedo, Angel; den Dunnen, Johan T; Dyke, Stephanie O M; Estivill, Xavier; Goldblatt, Jack; Gonthier, Catherine; Groft, Stephen C; Gut, Ivo; Hamosh, Ada; Hieter, Philip; Höhn, Sophie; Hurles, Matthew E; Kaufmann, Petra; Knoppers, Bartha M; Krischer, Jeffrey P; Macek, Milan; Matthijs, Gert; Olry, Annie; Parker, Samantha; Paschall, Justin; Philippakis, Anthony A; Rehm, Heidi L; Robinson, Peter N; Sham, Pak-Chung; Stefanov, Rumen; Taruscio, Domenica; Unni, Divya; Vanstone, Megan R; Zhang, Feng; Brunner, Han; Bamshad, Michael J; Lochmüller, Hanns.
Afiliação
  • Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada. Electronic address: kboycott@cheo.on.ca.
  • Rath A; Orphanet, Institut National de la Santé et de la Recherche Médicale US14, 75014 Paris, France.
  • Chong JX; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
  • Hartley T; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.
  • Alkuraya FS; Department of Genetics, King Faisal Research Center, Riyadh 11211, Saudi Arabia; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 11442, Saudi Arabia.
  • Baynam G; Genetic Services of Western Australia, Perth, WA 6008, Australia.
  • Brookes AJ; Department of Genetics, University of Leicester, Leicester LE1 7RH, UK.
  • Brudno M; Department of Computer Science, University of Toronto, Toronto M5S 1A1, Canada.
  • Carracedo A; Genomic Medicine Group, Galician Foundation of Genomic Medicine and University of Santiago de Compostela, 15782 Santiago de Compostela, Spain.
  • den Dunnen JT; Departments of Human Genetics and Clinical Genetics, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, the Netherlands.
  • Dyke SOM; Centre of Genomics and Policy, Department of Human Genetics, Faculty of Medicine, McGill University, Montreal, QC H3A 1A4, Canada.
  • Estivill X; Experimental Division, Sidra Medical and Research Center, PO Box 26999, Doha, Qatar; Genetics Unit, Dexeus Woman's Health, 08028 Barcelona, Spain.
  • Goldblatt J; Genetic Services of Western Australia, Perth, WA 6008, Australia.
  • Gonthier C; Orphanet, Institut National de la Santé et de la Recherche Médicale US14, 75014 Paris, France.
  • Groft SC; National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD 20892-4874, USA.
  • Gut I; Centre Nacional d'Anàlisi Genòmica, Center for Genomic Regulation, Barcelona Institute of Science and Technology, Universitat Pompeu Fabra, 08028 Barcelona, Spain.
  • Hamosh A; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21286, USA.
  • Hieter P; Michael Smith Laboratories, Department of Medical Genetics, University of British Columbia, Vancouver, BC V6T 1Z4, Canada.
  • Höhn S; Orphanet, Institut National de la Santé et de la Recherche Médicale US14, 75014 Paris, France.
  • Hurles ME; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK.
  • Kaufmann P; Office of Rare Diseases Research, National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD 20892-4874, USA.
  • Knoppers BM; Centre of Genomics and Policy, Department of Human Genetics, Faculty of Medicine, McGill University, Montreal, QC H3A 1A4, Canada.
  • Krischer JP; University of South Florida Health Informatics Institute, Tampa, FL 33620, USA.
  • Macek M; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and University Hospital Motol, 150 06 Prague 5, Czech Republic.
  • Matthijs G; Center for Human Genetics, University of Leuven, 3000 Leuven, Belgium.
  • Olry A; Orphanet, Institut National de la Santé et de la Recherche Médicale US14, 75014 Paris, France.
  • Parker S; Lysogene, 92 200 Neuilly-sur-Seine, France.
  • Paschall J; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK.
  • Philippakis AA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Rehm HL; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Robinson PN; Institut für Medizinische Genetik und Humangenetik, Charité Universitätsmdizin Berlin, 13353 Berlin, Germany; Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA.
  • Sham PC; Centre for Genomic Sciences, University of Hong Kong, Hong Kong, China.
  • Stefanov R; Department of Social Medicine and Public Health, Faculty of Public Health, Medical University of Plovdiv, Plovdiv 4002, Bulgaria.
  • Taruscio D; National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome 299-00161, Italy.
  • Unni D; Orphanet, Institut National de la Santé et de la Recherche Médicale US14, 75014 Paris, France.
  • Vanstone MR; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.
  • Zhang F; WuXi AppTec, Waigaoqiao Free Trade Zone, Shanghai 200131, China; WuXi NextCODE, Cambridge, MA 02142, USA.
  • Brunner H; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands; Maastricht University Medical Center, Department of Clinical Genetics, 6229 GT Maastricht, the Netherlands.
  • Bamshad MJ; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA 98105, USA.
  • Lochmüller H; John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
Am J Hum Genet ; 100(5): 695-705, 2017 May 04.
Article em En | MEDLINE | ID: mdl-28475856
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Raras / Cooperação Internacional Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Am J Hum Genet Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Raras / Cooperação Internacional Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Am J Hum Genet Ano de publicação: 2017 Tipo de documento: Article