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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

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  • 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

About the Authors

Erik G. Puffenberger, Nicholas L. Rider, D. Holmes Morton, Kevin A. Strauss
Clinic for Special Children, Strasburg, Pennsylvania, United States of America
Erik G. Puffenberger, Robert N. Jinks, Rebecca A. Willert, Nathan P. Achilly, Ryan P. Cassidy, Christopher J. Fiorentini, Kory F. Heiken, Johnny J. Lawrence, Molly H. Mahoney, Christopher J. Miller, Devika T. Nair, Kristin A. Politi, Kimberly N. Worcester, Roni A. Setton, Rosa DiPiazza, Nicholas L. Rider, D. Holmes Morton, Kevin A. Strauss
Department of Biology and Biological Foundations of Behavior Program, Franklin & Marshall College, Lancaster, Pennsylvania, United States of America
Carrie Sougnez, Kristian Cibulskis, Stacey Gabriel
The Broad Institute, Boston, Massachusetts, United States of America
Eric A. Sherman
Department of Biology, Swarthmore College, Swarthmore, Pennsylvania, United States of America
James T. Eastman
Department of Pathology and Laboratory Medicine, School of Medicine and Public Health, University of Wisconsin, Madison, Wisconsin, United States of America
Christopher Francklyn, Susan Robey-Bond
College of Medicine, University of Vermont, Burlington, Vermont, United States of America
Nicholas L. Rider, D. Holmes Morton, Kevin A. Strauss
Lancaster General Hospital, Lancaster, Pennsylvania, United States of America

Corresponding Author

Email: epuffenberger@clinicforspecialchildren.org

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Conceived and designed the experiments: EGP RNJ JTE CF SG DHM KAS. Performed the experiments: EGP RNJ RAW NPA RPC CJF KFH JJL MHM CJM DTN KAP KNW RAS RD EAS JTE CF SR-B. Analyzed the data: EGP RNJ CS KC RAW NPA RPC CJF KFH JJL MHM CJM DTN KAP KNW RAS RD EAS JTE CF SR-B. Contributed reagents/materials/analysis tools: CS KC JTE CF NLR SG DHM KAS. Wrote the paper: EGP RNJ KAS. Delineation of phenotype: NLR DHM KAS. Patient management, collection of samples, and summarization of clinical data: NLR DHM KAS.