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Open Access
Peer-reviewed
Research Article
Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases
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Erik G. Puffenberger ,
* E-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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Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases
- Erik G. Puffenberger,
- Robert N. Jinks,
- Carrie Sougnez,
- Kristian Cibulskis,
- Rebecca A. Willert,
- Nathan P. Achilly,
- Ryan P. Cassidy,
- Christopher J. Fiorentini,
- Kory F. Heiken,
- Johnny J. Lawrence
- Published: January 17, 2012
- https://doi.org/10.1371/journal.pone.0028936