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Research Article

Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases

  • Erik G. Puffenberger mail,

    epuffenberger@clinicforspecialchildren.org

    Affiliations: Clinic for Special Children, Strasburg, Pennsylvania, United States of America, Department of Biology and Biological Foundations of Behavior Program, Franklin & Marshall College, Lancaster, Pennsylvania, United States of America

    X
  • Robert N. Jinks,

    Affiliation: Department of Biology and Biological Foundations of Behavior Program, Franklin & Marshall College, Lancaster, Pennsylvania, United States of America

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  • Carrie Sougnez,

    Affiliation: The Broad Institute, Boston, Massachusetts, United States of America

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  • Kristian Cibulskis,

    Affiliation: The Broad Institute, Boston, Massachusetts, United States of America

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  • Rebecca A. Willert,

    Affiliation: Department of Biology and Biological Foundations of Behavior Program, Franklin & Marshall College, Lancaster, Pennsylvania, United States of America

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  • Nathan P. Achilly,

    Affiliation: Department of Biology and Biological Foundations of Behavior Program, Franklin & Marshall College, Lancaster, Pennsylvania, United States of America

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  • Ryan P. Cassidy,

    Affiliation: Department of Biology and Biological Foundations of Behavior Program, Franklin & Marshall College, Lancaster, Pennsylvania, United States of America

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  • Christopher J. Fiorentini,

    Affiliation: Department of Biology and Biological Foundations of Behavior Program, Franklin & Marshall College, Lancaster, Pennsylvania, United States of America

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  • Kory F. Heiken,

    Affiliation: Department of Biology and Biological Foundations of Behavior Program, Franklin & Marshall College, Lancaster, Pennsylvania, United States of America

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  • Johnny J. Lawrence,

    Affiliation: Department of Biology and Biological Foundations of Behavior Program, Franklin & Marshall College, Lancaster, Pennsylvania, United States of America

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  • Molly H. Mahoney,

    Affiliation: Department of Biology and Biological Foundations of Behavior Program, Franklin & Marshall College, Lancaster, Pennsylvania, United States of America

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  • Christopher J. Miller,

    Affiliation: Department of Biology and Biological Foundations of Behavior Program, Franklin & Marshall College, Lancaster, Pennsylvania, United States of America

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  • Devika T. Nair,

    Affiliation: Department of Biology and Biological Foundations of Behavior Program, Franklin & Marshall College, Lancaster, Pennsylvania, United States of America

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  • Kristin A. Politi,

    Affiliation: Department of Biology and Biological Foundations of Behavior Program, Franklin & Marshall College, Lancaster, Pennsylvania, United States of America

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  • Kimberly N. Worcester,

    Affiliation: Department of Biology and Biological Foundations of Behavior Program, Franklin & Marshall College, Lancaster, Pennsylvania, United States of America

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  • Roni A. Setton,

    Affiliation: Department of Biology and Biological Foundations of Behavior Program, Franklin & Marshall College, Lancaster, Pennsylvania, United States of America

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  • Rosa DiPiazza,

    Affiliation: Department of Biology and Biological Foundations of Behavior Program, Franklin & Marshall College, Lancaster, Pennsylvania, United States of America

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  • Eric A. Sherman,

    Affiliation: Department of Biology, Swarthmore College, Swarthmore, Pennsylvania, United States of America

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  • James T. Eastman,

    Affiliation: Department of Pathology and Laboratory Medicine, School of Medicine and Public Health, University of Wisconsin, Madison, Wisconsin, United States of America

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  • Christopher Francklyn,

    Affiliation: College of Medicine, University of Vermont, Burlington, Vermont, United States of America

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  • Susan Robey-Bond,

    Affiliation: College of Medicine, University of Vermont, Burlington, Vermont, United States of America

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  • Nicholas L. Rider,

    Affiliations: Clinic for Special Children, Strasburg, Pennsylvania, United States of America, Department of Biology and Biological Foundations of Behavior Program, Franklin & Marshall College, Lancaster, Pennsylvania, United States of America, Lancaster General Hospital, Lancaster, Pennsylvania, United States of America

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  • Stacey Gabriel,

    Affiliation: The Broad Institute, Boston, Massachusetts, United States of America

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  • D. Holmes Morton,

    Affiliations: Clinic for Special Children, Strasburg, Pennsylvania, United States of America, Department of Biology and Biological Foundations of Behavior Program, Franklin & Marshall College, Lancaster, Pennsylvania, United States of America, Lancaster General Hospital, Lancaster, Pennsylvania, United States of America

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  • Kevin A. Strauss

    Affiliations: Clinic for Special Children, Strasburg, Pennsylvania, United States of America, Department of Biology and Biological Foundations of Behavior Program, Franklin & Marshall College, Lancaster, Pennsylvania, United States of America, Lancaster General Hospital, Lancaster, Pennsylvania, United States of America

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  • Published: January 17, 2012
  • DOI: 10.1371/journal.pone.0028936

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