About the Authors

Nara L. M. Sobreira

Contributed equally to this work with: Nara L. M. Sobreira, Elizabeth T. Cirulli, Dimitrios Avramopoulos

Affiliations McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America, Predoctoral Training Program in Human Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America

Elizabeth T. Cirulli

Contributed equally to this work with: Nara L. M. Sobreira, Elizabeth T. Cirulli, Dimitrios Avramopoulos

Affiliation Center for Human Genome Variation, Duke University School of Medicine, Durham, North Carolina, United States of America

Dimitrios Avramopoulos

Contributed equally to this work with: Nara L. M. Sobreira, Elizabeth T. Cirulli, Dimitrios Avramopoulos

Affiliations McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America, Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America

Elizabeth Wohler

Affiliation Department of Cytogenetics, Kennedy Krieger Institute, Baltimore, Maryland, United States of America

Gretchen L. Oswald

Affiliation McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America

Eric L. Stevens

Affiliations McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America, Predoctoral Training Program in Human Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America

Dongliang Ge

Affiliation Center for Human Genome Variation, Duke University School of Medicine, Durham, North Carolina, United States of America

Kevin V. Shianna

Affiliation Center for Human Genome Variation, Duke University School of Medicine, Durham, North Carolina, United States of America

Jason P. Smith

Affiliation Center for Human Genome Variation, Duke University School of Medicine, Durham, North Carolina, United States of America

Jessica M. Maia

Affiliation Center for Human Genome Variation, Duke University School of Medicine, Durham, North Carolina, United States of America

Curtis E. Gumbs

Affiliation Center for Human Genome Variation, Duke University School of Medicine, Durham, North Carolina, United States of America

Jonathan Pevsner

Affiliations Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America, Department of Neurology, Kennedy Krieger Institute, Baltimore, Maryland, United States of America

George Thomas

Affiliations McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America, Department of Cytogenetics, Kennedy Krieger Institute, Baltimore, Maryland, United States of America

David Valle

These authors also contributed equally to this work.

Affiliations McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America

Julie E. Hoover-Fong

These authors also contributed equally to this work.

Affiliations McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America, Greenberg Center for Skeletal Dysplasias, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America

David B. Goldstein

d.goldstein@duke.edu

These authors also contributed equally to this work.

Affiliation Predoctoral Training Program in Human Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Conceived and designed the experiments: NLMS DBG. Performed the experiments: NLMS DA EW JPS CEG. Analyzed the data: NLMS ETC DA EW ELS JP GT DV. Contributed reagents/materials/analysis tools: DG KVS JMM GT DV. Wrote the paper: NLMS ETC DA GT DV JEHF DBG. Analyzed patients: NLMS DV JHF. Collected DNA from patients: NLMS DV JHF GLO. Collected patients' information: GLO.