About the Authors

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

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.