About the Authors

Zhe Zhang

Affiliation Center for Biomedical Informatics, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America

Mai Tsukikawa

Affiliation Division of Human Genetics, Department of Pediatrics, The Children’s Hospital of Philadelphia and Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America

Min Peng

Affiliation Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America

Erzsebet Polyak

Affiliation Division of Human Genetics, Department of Pediatrics, The Children’s Hospital of Philadelphia and Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America

Eiko Nakamaru-Ogiso

Affiliation Department of Biochemistry and Biophysics, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America

Julian Ostrovsky

Affiliation Division of Human Genetics, Department of Pediatrics, The Children’s Hospital of Philadelphia and Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America

Shana McCormack

Affiliation Division of Endocrinology, Department of Pediatrics, The Children’s Hospital of Philadelphia and Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America

Emily Place

Current address: Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary (MEEI), Harvard Medical School, Boston, Massachusetts, United States of America

Affiliation Division of Human Genetics, Department of Pediatrics, The Children’s Hospital of Philadelphia and Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America

Colleen Clarke

Affiliations Division of Human Genetics, Department of Pediatrics, The Children’s Hospital of Philadelphia and Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America, Division of Child Development and Metabolic Disease, The Children’s Hospital of Philadelphia and Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America

Gail Reiner

Affiliation Department of Pediatrics, University of California San Diego, San Diego, California, United States of America

Elizabeth McCormick

Affiliations Division of Human Genetics, Department of Pediatrics, The Children’s Hospital of Philadelphia and Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America, Division of Child Development and Metabolic Disease, The Children’s Hospital of Philadelphia and Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America

Eric Rappaport

Affiliation Nucleic Acid and Protein Core Facility, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America

Richard Haas

Affiliation Department of Pediatrics, University of California San Diego, San Diego, California, United States of America

Joseph A. Baur

Affiliation Department of Physiology, and Institute for Diabetes, Obesity, and Metabolism, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America

Marni J. Falk

falkm@email.chop.edu

Affiliations Division of Human Genetics, Department of Pediatrics, The Children’s Hospital of Philadelphia and Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America, Division of Child Development and Metabolic Disease, The Children’s Hospital of Philadelphia and Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Conceived and designed the experiments: MJF ZZ. Performed the experiments: MT JO E. Polyak MP ER EO. Analyzed the data: MJF ZZ JB SM EO. Contributed reagents/materials/analysis tools: MJF ZZ JB EO MP RH. Wrote the paper: MJF ZZ JB. Obtained IRB approval, identified and consented subjects, reviewed medical records, and prepared Table 1: MJF E. Place CC EM RH GR.