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    Tytuł:
    The contribution of de novo coding mutations to autism spectrum disorder.
    Autorzy:
    Iossifov I; Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA.
    O'Roak BJ; 1] Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195, USA [2] Molecular &Medical Genetics, Oregon Health &Science University, Portland, Oregon 97208, USA.
    Sanders SJ; 1] Department of Psychiatry, University of California, San Francisco, San Francisco, California 94158, USA [2] Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06520, USA.
    Ronemus M; Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA.
    Krumm N; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195, USA.
    Levy D; Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA.
    Stessman HA; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195, USA.
    Witherspoon KT; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195, USA.
    Vives L; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195, USA.
    Patterson KE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195, USA.
    Smith JD; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195, USA.
    Paeper B; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195, USA.
    Nickerson DA; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195, USA.
    Dea J; Department of Psychiatry, University of California, San Francisco, San Francisco, California 94158, USA.
    Dong S; 1] Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06520, USA [2] Center for Bioinformatics, State Key Laboratory of Protein and Plant Gene Research, School of Life Sciences, Peking University, Beijing 100871, China.
    Gonzalez LE; Child Study Center, Yale University School of Medicine, New Haven, Connecticut 06520, USA.
    Mandell JD; Department of Psychiatry, University of California, San Francisco, San Francisco, California 94158, USA.
    Mane SM; Yale Center for Genomic Analysis, Yale University School of Medicine, New Haven, Connecticut 06520, USA.
    Murtha MT; Child Study Center, Yale University School of Medicine, New Haven, Connecticut 06520, USA.
    Sullivan CA; Child Study Center, Yale University School of Medicine, New Haven, Connecticut 06520, USA.
    Walker MF; Department of Psychiatry, University of California, San Francisco, San Francisco, California 94158, USA.
    Waqar Z; Child Study Center, Yale University School of Medicine, New Haven, Connecticut 06520, USA.
    Wei L; 1] Center for Bioinformatics, State Key Laboratory of Protein and Plant Gene Research, School of Life Sciences, Peking University, Beijing 100871, China [2] National Institute of Biological Sciences, Beijing 102206, China.
    Willsey AJ; 1] Department of Psychiatry, University of California, San Francisco, San Francisco, California 94158, USA [2] Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06520, USA.
    Yamrom B; Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA.
    Lee YH; Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA.
    Grabowska E; 1] Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA [2] New York Genome Center, New York, New York 10013, USA.
    Dalkic E; 1] Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA [2] Department of Medical Biology, Bulent Ecevit University School of Medicine, 67600 Zonguldak, Turkey.
    Wang Z; Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA.
    Marks S; Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA.
    Andrews P; Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA.
    Leotta A; Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA.
    Kendall J; Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA.
    Hakker I; Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA.
    Rosenbaum J; Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA.
    Ma B; Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA.
    Rodgers L; Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA.
    Troge J; Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA.
    Narzisi G; 1] Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA [2] New York Genome Center, New York, New York 10013, USA.
    Yoon S; Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA.
    Schatz MC; Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA.
    Ye K; Department of Epidemiology and Population Health, Albert Einstein College of Medicine, Bronx, New York 10461, USA.
    McCombie WR; Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA.
    Shendure J; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195, USA.
    Eichler EE; 1] Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195, USA [2] Howard Hughes Medical Institute, Seattle, Washington 98195, USA.
    State MW; 1] Department of Psychiatry, University of California, San Francisco, San Francisco, California 94158, USA [2] Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06520, USA [3] Child Study Center, Yale University School of Medicine, New Haven, Connecticut 06520, USA [4] Department of Psychiatry, Yale University School of Medicine, New Haven, Connecticut 06520, USA.
    Wigler M; Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA.
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    Źródło:
    Nature [Nature] 2014 Nov 13; Vol. 515 (7526), pp. 216-21. Date of Electronic Publication: 2014 Oct 29.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Child Development Disorders, Pervasive/*genetics
    Genetic Predisposition to Disease/*genetics
    Mutation/*genetics
    Open Reading Frames/*genetics
    Child ; Cluster Analysis ; Exome/genetics ; Female ; Genes ; Humans ; Intelligence Tests ; Male ; Reproducibility of Results
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
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