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

  • Erik G. Puffenberger ,

    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

  • Robert N. Jinks,

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

  • Carrie Sougnez,

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

  • Kristian Cibulskis,

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

  • Rebecca A. Willert,

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

  • Nathan P. Achilly,

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

  • Ryan P. Cassidy,

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

  • Christopher J. Fiorentini,

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

  • Kory F. Heiken,

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

  • Johnny J. Lawrence,

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

  • Molly H. Mahoney,

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

  • Christopher J. Miller,

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

  • Devika T. Nair,

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

  • Kristin A. Politi,

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

  • Kimberly N. Worcester,

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

  • Roni A. Setton,

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

  • Rosa DiPiazza,

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

  • Eric A. Sherman,

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

  • 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

  • Christopher Francklyn,

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

  • Susan Robey-Bond,

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

  • 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

  • Stacey Gabriel,

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

  • 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

  •  [ ... ],
  • 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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