About the Authors
- Jinglan Zhang
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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
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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
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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
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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
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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
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Affiliation Departments of Anatomy/Cell Biology and Ophthalmology, Wayne State University School of Medicine, Detroit, Michigan, United States of America
- Jun Liao
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Affiliation Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America
- Jill Rosenfeld
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Affiliation Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America
- Naomi Yachelevich
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Affiliation Clinical Genetics Services, New York University Hospitals Center, New York, New York, United States of America
- Mary-Lynn Chu
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Affiliation Department of Neurology, New York University School of Medicine, New York, New York, United States of America
- Wendy G. Mitchell
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Affiliation Neurology Division, Children's Hospital Los Angeles, Los Angeles, California, United States of America
- Richard G. Boles
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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
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Affiliation Clinical Genetics Services, NYU Langone Hospital for Joint Diseases, New York, New York, United States of America
- Mari Tokita
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Affiliation Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America
- Elizabeth Gorman
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Affiliation Baylor Miraca Genetics Laboratories, Houston, Texas, United States of America
- Kaytee Bagley
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Affiliation Baylor Miraca Genetics Laboratories, Houston, Texas, United States of America
- Wei Zhang
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Affiliation Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America
- Fan Xia
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Affiliation Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America
- Magalie Leduc
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Affiliation Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America
- Yaping Yang
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Affiliation Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America
- Christine Eng
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Affiliation Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America
- Lee-Jun Wong
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Affiliation Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America
- Raphael Schiffmann
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Affiliation Institute of Metabolic Disease, Baylor Research Institute, Dallas, Texas, United States of America
- George A. Diaz
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Affiliation Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America
- Ruth Kornreich
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Affiliation Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America
- Ryan Thummel
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Affiliation Departments of Anatomy/Cell Biology and Ophthalmology, Wayne State University School of Medicine, Detroit, Michigan, United States of America
- Melissa Wasserstein
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Affiliation Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America
- Zhenyu Yue
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* E-mail: 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
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* E-mail: 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.