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The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.
DiStefano, Marina T; Goehringer, Scott; Babb, Lawrence; Alkuraya, Fowzan S; Amberger, Joanna; Amin, Mutaz; Austin-Tse, Christina; Balzotti, Marie; Berg, Jonathan S; Birney, Ewan; Bocchini, Carol; Bruford, Elspeth A; Coffey, Alison J; Collins, Heather; Cunningham, Fiona; Daugherty, Louise C; Einhorn, Yaron; Firth, Helen V; Fitzpatrick, David R; Foulger, Rebecca E; Goldstein, Jennifer; Hamosh, Ada; Hurles, Matthew R; Leigh, Sarah E; Leong, Ivone U S; Maddirevula, Sateesh; Martin, Christa L; McDonagh, Ellen M; Olry, Annie; Puzriakova, Arina; Radtke, Kelly; Ramos, Erin M; Rath, Ana; Riggs, Erin Rooney; Roberts, Angharad M; Rodwell, Charlotte; Snow, Catherine; Stark, Zornitza; Tahiliani, Jackie; Tweedie, Susan; Ware, James S; Weller, Phillip; Williams, Eleanor; Wright, Caroline F; Yates, Thabo Michael; Rehm, Heidi L.
Afiliação
  • DiStefano MT; Geisinger Health System, Danville, PA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.
  • Goehringer S; Geisinger Health System, Danville, PA.
  • Babb L; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.
  • Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Amberger J; Online Mendelian Inheritance in Man (OMIM), Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD.
  • Amin M; INSERM, US14 - Orphanet, Paris, France.
  • Austin-Tse C; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; Department of Pathology, Massachusetts General Hospital, Boston, MA; Mass General Brigham Laboratory for Molecular Medicine, Cambridge, MA.
  • Balzotti M; Myriad Women's Health, San Francisco, CA.
  • Berg JS; Department of Genetics, UNC School of Medicine, University of North Carolina, Chapel Hill, NC.
  • Birney E; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, United Kingdom.
  • Bocchini C; Online Mendelian Inheritance in Man (OMIM), Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD.
  • Bruford EA; HUGO Gene Nomenclature Committee (HGNC), European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, United Kingdom; Department of Haematology, School of Clinical Medicine, University of Cambridge, Cambridge, United Kingdom.
  • Coffey AJ; Illumina Clinical Services Laboratory, Illumina Inc, San Diego, CA.
  • Collins H; National Library of Medicine, Bethesda, MD; ICF International Inc, Fairfax, VA.
  • Cunningham F; Genome Interpretation, Genome Assembly and Annotation (GAA), European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, United Kingdom.
  • Daugherty LC; Genomics England, Queen Mary University of London, London, United Kingdom; Healx Ltd, Cambridge, United Kingdom.
  • Einhorn Y; Franklin by Genoox, Palo Alto, CA.
  • Firth HV; Department of Medical Genetics, Addenbrooke's Treatment Centre, Cambridge University Hospitals NHS Trust, Cambridge, United Kingdom.
  • Fitzpatrick DR; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, College of Medicine & Veterinary Medicine, The University of Edinburgh, Edinburgh, United Kingdom.
  • Foulger RE; Genomics England, Queen Mary University of London, London, United Kingdom; SciBite Limited, BioData Innovation Centre, Wellcome Genome Campus, Hinxton, Cambridge, United Kingdom.
  • Goldstein J; Department of Genetics, UNC School of Medicine, University of North Carolina, Chapel Hill, NC.
  • Hamosh A; Online Mendelian Inheritance in Man (OMIM), Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD.
  • Hurles MR; Wellcome Sanger Institute, Hinxton, United Kingdom.
  • Leigh SE; Genomics England, Queen Mary University of London, London, United Kingdom.
  • Leong IUS; Genomics England, Queen Mary University of London, London, United Kingdom.
  • Maddirevula S; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Martin CL; Geisinger Health System, Danville, PA.
  • McDonagh EM; Genomics England, Queen Mary University of London, London, United Kingdom; Open Targets, EMBL-EBI, Wellcome Genome Campus, Hinxton, Cambridgeshire, United Kingdom.
  • Olry A; INSERM, US14 - Orphanet, Paris, France.
  • Puzriakova A; Genomics England, Queen Mary University of London, London, United Kingdom.
  • Radtke K; AmbryGenetics, Aliso Viejo, CA.
  • Ramos EM; National Human Genome Research Institute, National Institutes of Health Bethesda, MD.
  • Rath A; INSERM, US14 - Orphanet, Paris, France.
  • Riggs ER; Autism & Developmental Medicine Institute, Geisinger, Danville, PA.
  • Roberts AM; National Heart and Lung Institute & MRC London Institute of Medical Sciences, Institute of Clinical Sciences, Faculty of Medicine, Imperial College London, London, United Kingdom; Great Ormond Street Hospital, London, United Kingdom.
  • Rodwell C; INSERM, US14 - Orphanet, Paris, France.
  • Snow C; Genomics England, Queen Mary University of London, London, United Kingdom.
  • Stark Z; Australian Genomics, Melbourne, Australia.
  • Tahiliani J; Invitae, San Francisco, CA.
  • Tweedie S; HUGO Gene Nomenclature Committee (HGNC), European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, United Kingdom.
  • Ware JS; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; National Heart and Lung Institute & MRC London Institute of Medical Sciences, Institute of Clinical Sciences, Faculty of Medicine, Imperial College London, London, United Kingdom; Royal Brompton &
  • Weller P; Autism & Developmental Medicine Institute, Geisinger, Danville, PA.
  • Williams E; Genomics England, Queen Mary University of London, London, United Kingdom.
  • Wright CF; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Royal Devon & Exeter Hospital, Exeter, United Kingdom.
  • Yates TM; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, College of Medicine & Veterinary Medicine, The University of Edinburgh, Edinburgh, United Kingdom.
  • Rehm HL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA. Electronic address: HREHM@mgh.harvard.edu.
Genet Med ; 24(8): 1732-1742, 2022 08.
Article em En | MEDLINE | ID: mdl-35507016
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Genômica / Bases de Dados Genéticas Idioma: En Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Marrocos
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Genômica / Bases de Dados Genéticas Idioma: En Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Marrocos