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Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms.
Roberts, Angharad M; DiStefano, Marina T; Riggs, Erin Rooney; Josephs, Katherine S; Alkuraya, Fowzan S; Amberger, Joanna; Amin, Mutaz; Berg, Jonathan S; Cunningham, Fiona; Eilbeck, Karen; Firth, Helen V; Foreman, Julia; Hamosh, Ada; Hay, Eleanor; Leigh, Sarah; Martin, Christa L; McDonagh, Ellen M; Perrett, Daniel; Ramos, Erin M; Robinson, Peter N; Rath, Ana; van Sant, David; Stark, Zornitza; Whiffin, Nicola; Rehm, Heidi L; Ware, James S.
Afiliación
  • Roberts AM; National Heart & Lung Institute & MRC London Institute of Medical Sciences, Imperial College London, London, UK.
  • DiStefano MT; Dept of Medical Genetics, Great Ormond Street Hospital, Great Ormond Street, London. WC1N 3JH, UK.
  • Riggs ER; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Josephs KS; Geisinger Autism & Developmental Medicine Institute, Danville, PA, USA.
  • Alkuraya FS; National Heart & Lung Institute & MRC London Institute of Medical Sciences, Imperial College London, London, UK.
  • Amberger J; Royal Brompton & Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, UK.
  • Amin M; Department of Translational Genomics, Center for Genomic Medicine, KFSHRC, Riyadh, Saudi Arabia.
  • Berg JS; Online Mendelian Inheritance in Man (OMIM), Johns Hopkins University School of Medicine, USA.
  • Cunningham F; INSERM, US14-Orphanet, Paris, France.
  • Eilbeck K; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill NC, 27599.
  • Firth HV; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridgeshire, CB10 1SD, United Kingdom.
  • Foreman J; Department of Biomedical Informatics, University of Utah, Salt Lake City, Utah.
  • Hamosh A; Dept of Medical Genetics, Cambridge University Hospitals, Cambridge CB2 0QQ, UK.
  • Hay E; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, CB10 1SA, UK.
  • Leigh S; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, CB10 1SA, UK.
  • Martin CL; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridgeshire, CB10 1SD, United Kingdom.
  • McDonagh EM; Online Mendelian Inheritance in Man (OMIM), Johns Hopkins University School of Medicine, USA.
  • Perrett D; Dept of Medical Genetics, Great Ormond Street Hospital, Great Ormond Street, London. WC1N 3JH, UK.
  • Ramos EM; Genomics England, Queen Mary University of London, Dawson Hall, London, EC1M 6BQ, UK.
  • Robinson PN; Clinical Genome Resource (ClinGen), USA.
  • Rath A; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridgeshire, CB10 1SD, United Kingdom.
  • van Sant D; Open Targets, Cambridge, UK.
  • Stark Z; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridgeshire, CB10 1SD, United Kingdom.
  • Whiffin N; National Human Genome Research Institute, National Institutes of Health, USA.
  • Rehm HL; The Jackson Laboratory for Genomic Medicine, Farmington CT 06032, USA.
  • Ware JS; INSERM, US14-Orphanet, Paris, France.
medRxiv ; 2023 Apr 03.
Article en En | MEDLINE | ID: mdl-37066232
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Idioma: En Revista: MedRxiv Año: 2023 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Idioma: En Revista: MedRxiv Año: 2023 Tipo del documento: Article País de afiliación: Reino Unido