About the Authors

Santhosh Girirajan

Affiliation Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, United States of America

Zoran Brkanac

Affiliation Department of Psychiatry and Behavioral Sciences, University of Washington School of Medicine, Seattle, Washington, United States of America

Bradley P. Coe

Affiliation Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, United States of America

Carl Baker

Affiliation Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, United States of America

Laura Vives

Affiliation Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, United States of America

Tiffany H. Vu

Affiliation Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, United States of America

Neil Shafer

Affiliation Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, United States of America

Raphael Bernier

Affiliation Department of Psychiatry and Behavioral Sciences, University of Washington School of Medicine, Seattle, Washington, United States of America

Giovanni B. Ferrero

Affiliation Department of Pediatrics, University of Torino, Turin, Italy

Margherita Silengo

Affiliation Department of Pediatrics, University of Torino, Turin, Italy

Stephen T. Warren

Affiliation Departments of Human Genetics, Biochemistry, and Pediatrics, Emory University School of Medicine, Atlanta, Georgia, United States of America

Carlos S. Moreno

Affiliation Department of Pathology and Laboratory Medicine, Emory University School of Medicine, Atlanta, Georgia, United States of America

Marco Fichera

Affiliation IRCCS Associazione Oasi Maria Santissima, Troina, Italy

Corrado Romano

Affiliation IRCCS Associazione Oasi Maria Santissima, Troina, Italy

Wendy H. Raskind

Affiliations Department of Psychiatry and Behavioral Sciences, University of Washington School of Medicine, Seattle, Washington, United States of America, Department of Medicine, Division of Medical Genetics, University of Washington School of Medicine, Seattle, Washington, United States of America

Evan E. Eichler

eee@gs.washington.edu

Affiliations Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, United States of America, Howard Hughes Medical Institute, University of Washington School of Medicine, Seattle, Washington, United States of America

Competing Interests

EEE is on the scientific advisory board for Pacific Biosciences.

Author Contributions

Conceived and designed the experiments: SG EEE. Performed the experiments: SG CB LV THV NS. Analyzed the data: SG. Contributed reagents/materials/analysis tools: SG EEE BPC ZB STW WHR CSM CR MF GBF MS RB. Wrote the paper: SG EEE.