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Distribution and medical impact of loss-of-function variants in the Finnish founder population.
Lim, Elaine T; Würtz, Peter; Havulinna, Aki S; Palta, Priit; Tukiainen, Taru; Rehnström, Karola; Esko, Tõnu; Mägi, Reedik; Inouye, Michael; Lappalainen, Tuuli; Chan, Yingleong; Salem, Rany M; Lek, Monkol; Flannick, Jason; Sim, Xueling; Manning, Alisa; Ladenvall, Claes; Bumpstead, Suzannah; Hämäläinen, Eija; Aalto, Kristiina; Maksimow, Mikael; Salmi, Marko; Blankenberg, Stefan; Ardissino, Diego; Shah, Svati; Horne, Benjamin; McPherson, Ruth; Hovingh, Gerald K; Reilly, Muredach P; Watkins, Hugh; Goel, Anuj; Farrall, Martin; Girelli, Domenico; Reiner, Alex P; Stitziel, Nathan O; Kathiresan, Sekar; Gabriel, Stacey; Barrett, Jeffrey C; Lehtimäki, Terho; Laakso, Markku; Groop, Leif; Kaprio, Jaakko; Perola, Markus; McCarthy, Mark I; Boehnke, Michael; Altshuler, David M; Lindgren, Cecilia M; Hirschhorn, Joel N; Metspalu, Andres; Freimer, Nelson B.
  • Lim ET; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, United States of America; Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, United States of America; Department of Genetics, Harvard Medical
  • Würtz P; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland; Department of Chronic Disease Prevention, National Institute for Health and Welfare, Helsinki, Finland; Computational Medicine, Institute of Health Sciences, University of Oulu, Oulu, Finland.
  • Havulinna AS; Department of Chronic Disease Prevention, National Institute for Health and Welfare, Helsinki, Finland.
  • Palta P; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland; Wellcome Trust Sanger Institute, Hinxton, Cambridge, United Kingdom.
  • Tukiainen T; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, United States of America; Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, United States of America; Department of Genetics, Harvard Medical
  • Rehnström K; Wellcome Trust Sanger Institute, Hinxton, Cambridge, United Kingdom.
  • Esko T; Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, United States of America; Department of Genetics, Harvard Medical School, Boston, Massachusetts, United States of America; Estonian Genome Center, University of Tartu, Tartu, Estonia; Divisions of Endocrinology an
  • Mägi R; Estonian Genome Center, University of Tartu, Tartu, Estonia.
  • Inouye M; Medical Systems Biology, Department of Pathology and Department of Microbiology & Immunology, The University of Melbourne, Parkville, Victoria, Australia.
  • Lappalainen T; Department of Genetics, Stanford University, Stanford, California, United States of America; Stanford Center for Computational, Evolutionary and Human Genomics, Stanford, California, United States of America.
  • Chan Y; Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, United States of America; Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, Massachusetts, United States of America; Divisions of Endocrinology and Genetics and Center for Basic and Tr
  • Salem RM; Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, United States of America; Divisions of Endocrinology and Genetics and Center for Basic and Translational Obesity Research, Children's Hospital Boston, Boston, Massachusetts, United States of America.
  • Lek M; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, United States of America; Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, United States of America; Department of Genetics, Harvard Medical
  • Flannick J; Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, United States of America; Department of Genetics, Harvard Medical School, Boston, Massachusetts, United States of America.
  • Sim X; Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, United States of America.
  • Manning A; Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, United States of America.
  • Ladenvall C; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland; Lund University Diabetes Center, Department of Clinical Sciences, Diabetes & Endocrinology, Skåne University Hospital, Lund University, Malmö, Sweden.
  • Bumpstead S; Wellcome Trust Sanger Institute, Hinxton, Cambridge, United Kingdom.
  • Hämäläinen E; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland; Wellcome Trust Sanger Institute, Hinxton, Cambridge, United Kingdom.
  • Aalto K; MediCity, University of Turku, Turku, Finland.
  • Maksimow M; MediCity, University of Turku, Turku, Finland.
  • Salmi M; Department of Medical Microbiology and Immunology, University of Turku and National Institute for Health and Welfare, Turku, Finland.
  • Blankenberg S; University Heart Centre Hamburg, Clinic for General and Interventional Cardiology, Hamburg, Germany; DZHK (German Centre for Cardiovascular Research), partner site Hamburg/Kiel/Lübeck, Hamburg, Germany.
  • Ardissino D; Division of Cardiology, Azienda Ospedaliero-Universitaria di Parma, Parma, Italy.
  • Shah S; Department of Medicine, Duke University Medical Center, Durham, North Carolina, United States of America.
  • Horne B; Intermountain Heart Institute, Intermountain Medical Center, Salt Lake City, Utah, United States of America.
  • McPherson R; Division of Cardiology, University of Ottawa Heart Institute, Ottawa, Ontario, Canada.
  • Hovingh GK; Department of Vascular Medicine, Academic Medical Center, Amsterdam, The Netherlands.
  • Reilly MP; Cardiovascular Institute, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.
  • Watkins H; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom.
  • Goel A; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom.
  • Farrall M; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom.
  • Girelli D; University of Verona School of Medicine, Department of Medicine, Verona, Italy.
  • Reiner AP; Department of Epidemiology, University of Washington, Seattle, Washington, United States of America.
  • Stitziel NO; Cardiovascular Division, Department of Medicine, Washington University School of Medicine, St. Louis, Missouri, United States of America.
  • Kathiresan S; Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, United States of America.
  • Gabriel S; Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, United States of America.
  • Barrett JC; Wellcome Trust Sanger Institute, Hinxton, Cambridge, United Kingdom.
  • Lehtimäki T; Department of Clinical Chemistry, Fimlab Laboratories, University of Tampere School of Medicine, Tampere, Finland.
  • Laakso M; Department of Medicine, University of Eastern Finland, Kuopio, Finland.
  • Groop L; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland; Lund University Diabetes Center, Department of Clinical Sciences, Diabetes & Endocrinology, Skåne University Hospital, Lund University, Malmö, Sweden.
  • Kaprio J; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland; University of Helsinki, Hjelt Institute, Dept of Public Health, Helsinki, Finland; National Institute for Health and Welfare, Dept of Mental Health and Substance Abuse Services, Helsinki, Finland.
  • Perola M; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland.
  • McCarthy MI; Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Headington, Oxford, United Kingdom; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom; Oxford NIHR Biomedical Research Centre, Churchill Hospital, Headington, Oxfo
  • Boehnke M; Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, United States of America.
  • Altshuler DM; Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, United States of America; Department of Genetics, Harvard Medical School, Boston, Massachusetts, United States of America.
  • Lindgren CM; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, United States of America; Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, United States of America; Wellcome Trust Centre for Human Genetics
  • Hirschhorn JN; Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, United States of America; Divisions of Endocrinology and Genetics and Center for Basic and Translational Obesity Research, Children's Hospital Boston, Boston, Massachusetts, United States of America.
  • Metspalu A; Estonian Genome Center, University of Tartu, Tartu, Estonia.
  • Freimer NB; University of California Los Angeles Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, California, United States of America.
PLoS Genet ; 10(7): e1004494, 2014 Jul.
Article en En | MEDLINE | ID: mdl-25078778
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Efecto Fundador / Flujo Genético / Genética de Población / Enfermedades Genéticas Congénitas Tipo de estudio: Clinical_trials Límite: Female / Humans / Male País como asunto: Europa Idioma: En Año: 2014 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Efecto Fundador / Flujo Genético / Genética de Población / Enfermedades Genéticas Congénitas Tipo de estudio: Clinical_trials Límite: Female / Humans / Male País como asunto: Europa Idioma: En Año: 2014 Tipo del documento: Article