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    • Open Access

    Peer-reviewed

    Research Article

    Whole-Genome Sequencing of a Single Proband Together with Linkage Analysis Identifies a Mendelian Disease Gene

    • Nara L. M. Sobreira ,

      Contributed equally to this work with: Nara L. M. Sobreira, Elizabeth T. Cirulli, Dimitrios Avramopoulos

      Affiliations McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America, Predoctoral Training Program in Human Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America

      ⨯
    • Elizabeth T. Cirulli ,

      Contributed equally to this work with: Nara L. M. Sobreira, Elizabeth T. Cirulli, Dimitrios Avramopoulos

      Affiliation Center for Human Genome Variation, Duke University School of Medicine, Durham, North Carolina, United States of America

      ⨯
    • Dimitrios Avramopoulos ,

      Contributed equally to this work with: Nara L. M. Sobreira, Elizabeth T. Cirulli, Dimitrios Avramopoulos

      Affiliations McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America, Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America

      ⨯
    • Elizabeth Wohler,

      Affiliation Department of Cytogenetics, Kennedy Krieger Institute, Baltimore, Maryland, United States of America

      ⨯
    • Gretchen L. Oswald,

      Affiliation McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America

      ⨯
    • Eric L. Stevens,

      Affiliations McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America, Predoctoral Training Program in Human Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America

      ⨯
    • Dongliang Ge,

      Affiliation Center for Human Genome Variation, Duke University School of Medicine, Durham, North Carolina, United States of America

      ⨯
    • Kevin V. Shianna,

      Affiliation Center for Human Genome Variation, Duke University School of Medicine, Durham, North Carolina, United States of America

      ⨯
    • Jason P. Smith,

      Affiliation Center for Human Genome Variation, Duke University School of Medicine, Durham, North Carolina, United States of America

      ⨯
    • Jessica M. Maia,

      Affiliation Center for Human Genome Variation, Duke University School of Medicine, Durham, North Carolina, United States of America

      ⨯
    • Curtis E. Gumbs,

      Affiliation Center for Human Genome Variation, Duke University School of Medicine, Durham, North Carolina, United States of America

      ⨯
    • Jonathan Pevsner,

      Affiliations Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America, Department of Neurology, Kennedy Krieger Institute, Baltimore, Maryland, United States of America

      ⨯
    • George Thomas,

      Affiliations McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America, Department of Cytogenetics, Kennedy Krieger Institute, Baltimore, Maryland, United States of America

      ⨯
    • David Valle ,

      These authors also contributed equally to this work.

      Affiliations McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America

      ⨯
    • Julie E. Hoover-Fong ,

      These authors also contributed equally to this work.

      Affiliations McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America, Greenberg Center for Skeletal Dysplasias, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America

      ⨯
    •  [ ... ],
    • David B. Goldstein

      d.goldstein@duke.edu

      These authors also contributed equally to this work.

      Affiliation Predoctoral Training Program in Human Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America

      ⨯
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