Published Online: October 18, 2014. doi:10.1001/jama.2014.14604.
Study concept and design: Lee, Kantarci, Dipple, Grody, Vilain, Nelson.
Acquisition, analysis, or interpretation of data: All authors.
Drafting of the manuscript: Lee, Quintero-Rivera, Das, Martinez-Agosto, Dipple, Nelson.
Critical revision of the manuscript for important intellectual content: All authors.
Statistical analysis: Lee, Yourshaw, Nelson.
Obtained funding: Chang, Nelson.
Administrative, technical, or material support: Deignan, Quintero-Rivera, Das, Harry, Fox, Fogel, Shieh, Palmer, Dipple, Grody, Vilain, Nelson.
Study supervision: Das, Martinez-Agosto, Grody, Vilain, Nelson.
Conflict of Interest Disclosures: All authors have completed and submitted the ICMJE Form for Disclosure of Potential Conflicts of Interest. Drs Lee, Deignan, Dorrani, Strom, Kantarci, Quintero-Rivera, Das, Toy, Grody, and Nelson are part of the Department of Pathology and Laboratory Medicine, which derives revenue from the clinical use of the clinical exome sequencing test. Dr Fogel reports receiving grant funding from the National Institute of Mental Health, the National Institute for Neurological Disorders and Stroke, and the National Ataxia Foundation. Dr Shieh reports that he is a member of the speakers bureau for Grifols. Dr Vilain reports receiving grant funding from the University of California, Los Angeles.
Funding/Support: Part of the study was supported by the National Institutes of Health’s National Center for Advancing Translational Science (UCLA CTSI UL1TR000124) and National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIH-P30-5P30AR057230), the California Institute of Regenerative Medicine (RT2-01985), the K12 Child Health Research Career Development Award (2K12HD034610-16), and the Hyundai Hope on Wheels Scholar Award.
Role of the Funder/Sponsor: The funders had no role in the design and conduct of the study; collection, management, analysis, and interpretation of the data; and decision to submit the manuscript for publication.
Additional Contributions: We thank the staffs at the University of California, Los Angeles, Clinical Genomics Center for their compensated assistance in performing the clinical exome sequencing test, routing samples, and administrative tasks.