About the Authors

Joshi Stephen

Contributed equally to this work with: Joshi Stephen, Tadafumi Yokoyama, Nathanial J. Tolman

Affiliation Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America

Tadafumi Yokoyama

Contributed equally to this work with: Joshi Stephen, Tadafumi Yokoyama, Nathanial J. Tolman

Affiliation Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America

Nathanial J. Tolman

Contributed equally to this work with: Joshi Stephen, Tadafumi Yokoyama, Nathanial J. Tolman

Affiliation NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, United States of America

Kevin J. O’Brien

Affiliation Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America

Elena-Raluca Nicoli

Affiliation NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, United States of America

Brian P. Brooks

Affiliation Ophthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States of America

Laryssa Huryn

Affiliation Ophthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States of America

Steven A. Titus

Affiliation Division of Pre-clinical Innovation, National Center for Advancing Translational Sciences, National Institutes of Health, Rockville, Maryland, United States of America

David R. Adams

Affiliations NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, United States of America, Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America

Dong Chen

Affiliation Division of Hematopathology, Mayo Clinic, Rochester, Minnesota, United States of America

William A. Gahl

Affiliations Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America, NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, United States of America, Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America

Bernadette R. Gochuico

gochuicb@mail.nih.gov

‡ These authors also contributed equally to this work.

Affiliation Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America

May Christine V. Malicdan

‡ These authors also contributed equally to this work.

Affiliations NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, United States of America, Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America

Competing Interests

The authors have no competing interests to declare.

Author Contributions

Conceptualization: JS TY NJT KJO BRG WAG MCVM. Data curation: JS TY NJT ERN KJO BPB LH SAT DRA DC BRG WAG MCVM. Formal analysis: JS TY NJT ERN BPB LH SAT DRA MCVM. Funding acquisition: BRB WAG. Investigation: JS TY NJT ERN KJO BPB LH DRA DC BRG WAG MCVM. Methodology: JS TY NJT KJO SAT BRG WAG MCVM. Project administration: BRG WAG MCVM. Resources: JS TY NJT ERN KJO BPB LH DRA DC BRG WAG MCVM. Software: SAT DRA BRG MCVM. Supervision: WAG BRG MCVM. Validation: JS TY NT ERN MCVM. Visualization: JS TY NJT ERN KJO BPB LH DRA DC BRG WAG MCVM. Writing – original draft: JS TY NJT MCVM. Writing – review & editing: JS TY NJT RN KJO BPB LH SAT DRA DC BRG WAG MCVM.