About the Authors

Jinglan Zhang

Contributed equally to this work with: Jinglan Zhang, Véronik Lachance

Affiliations Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America

Véronik Lachance

Contributed equally to this work with: Jinglan Zhang, Véronik Lachance

Affiliation Department of Neurology, The Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America

Adam Schaffner

Affiliation Department of Neurology, The Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America

Xianting Li

Affiliation Department of Neurology, The Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America

Anastasia Fedick

Affiliation Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America

Lauren E. Kaye

Affiliation Departments of Anatomy/Cell Biology and Ophthalmology, Wayne State University School of Medicine, Detroit, Michigan, United States of America

Jun Liao

Affiliation Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America

Jill Rosenfeld

Affiliation Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America

Naomi Yachelevich

Affiliation Clinical Genetics Services, New York University Hospitals Center, New York, New York, United States of America

Mary-Lynn Chu

Affiliation Department of Neurology, New York University School of Medicine, New York, New York, United States of America

Wendy G. Mitchell

Affiliation Neurology Division, Children's Hospital Los Angeles, Los Angeles, California, United States of America

Richard G. Boles

Affiliations Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, California, United States of America, Courtagen Life Sciences, Woburn, Massachusetts, United States of America

Ellen Moran

Affiliation Clinical Genetics Services, NYU Langone Hospital for Joint Diseases, New York, New York, United States of America

Mari Tokita

Affiliation Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America

Elizabeth Gorman

Affiliation Baylor Miraca Genetics Laboratories, Houston, Texas, United States of America

Kaytee Bagley

Affiliation Baylor Miraca Genetics Laboratories, Houston, Texas, United States of America

Wei Zhang

Affiliation Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America

Fan Xia

Affiliation Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America

Magalie Leduc

Affiliation Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America

Yaping Yang

Affiliation Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America

Christine Eng

Affiliation Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America

Lee-Jun Wong

Affiliation Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America

Raphael Schiffmann

Affiliation Institute of Metabolic Disease, Baylor Research Institute, Dallas, Texas, United States of America

George A. Diaz

Affiliation Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America

Ruth Kornreich

Affiliation Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America

Ryan Thummel

Affiliation Departments of Anatomy/Cell Biology and Ophthalmology, Wayne State University School of Medicine, Detroit, Michigan, United States of America

Melissa Wasserstein

Affiliation Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America

Zhenyu Yue

zhenyu.yue@mssm.edu (ZY); lisa.edelmann@mssm.edu (LE)

Affiliation Department of Neurology, The Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America

Lisa Edelmann

zhenyu.yue@mssm.edu (ZY); lisa.edelmann@mssm.edu (LE)

Affiliation Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Conceived and designed the experiments: LE ZY VL JZ. Performed the experiments: JZ VL AS XL AF LEK JL EG KB RT. Analyzed the data: JZ VL AS AF LEK JR JL EM EG KB WZ FX ML MT YY CE LJW RS GAD RK RT MW ZY LE. Contributed reagents/materials/analysis tools: JZ VL NY MLC YY CE LJW RT ZY LE. Wrote the paper: JZ VL RT MW ZY LE. Clinical characterization of patients: NY MLC WGM RGB RS GAD MW.