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Open Access
Peer-reviewed
Research Article
Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease
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Jana Zernant,
Roles Conceptualization, Data curation, Formal analysis, Investigation, Validation, Writing – original draft
Affiliation Department of Ophthalmology, Columbia University, New York, New York, United States of America
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Winston Lee,
Roles Conceptualization, Data curation, Investigation, Visualization, Writing – review & editing
Affiliations Department of Ophthalmology, Columbia University, New York, New York, United States of America, Department of Genetics & Development, Columbia University, New York, New York, United States of America
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Jun Wang,
Roles Data curation, Formal analysis, Investigation
Affiliation Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America
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Kerry Goetz,
Roles Data curation, Investigation, Resources, Writing – review & editing
Affiliation National Eye Institute, NIH, Bethesda, Maryland, United States of America
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Ehsan Ullah,
Roles Data curation, Formal analysis, Investigation, Writing – review & editing
Affiliation National Eye Institute, NIH, Bethesda, Maryland, United States of America
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Takayuki Nagasaki,
Roles Data curation
Affiliation Department of Ophthalmology, Columbia University, New York, New York, United States of America
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Pei-Yin Su,
Roles Data curation, Formal analysis
Affiliation Department of Ophthalmology, Columbia University, New York, New York, United States of America
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Gerald A. Fishman,
Roles Resources
Affiliation The Pangere Center for Inherited Retinal Diseases, The Chicago Lighthouse, Chicago, Illinois, United States of America
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Stephen H. Tsang,
Roles Resources
Affiliations Department of Ophthalmology, Columbia University, New York, New York, United States of America, Department of Pathology & Cell Biology, Columbia University, New York, New York, United States of America
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Santa J. Tumminia,
Roles Resources, Supervision, Writing – review & editing
Affiliation National Eye Institute, NIH, Bethesda, Maryland, United States of America
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Brian P. Brooks,
Roles Resources, Supervision, Writing – review & editing
Affiliation National Eye Institute, NIH, Bethesda, Maryland, United States of America
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Robert B. Hufnagel,
Roles Resources, Supervision, Writing – review & editing
Affiliation National Eye Institute, NIH, Bethesda, Maryland, United States of America
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Rui Chen,
Roles Conceptualization, Funding acquisition, Resources, Supervision, Writing – review & editing
Affiliation Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America
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Rando Allikmets
Roles Conceptualization, Funding acquisition, Project administration, Resources, Supervision, Validation, Writing – original draft, Writing – review & editing
* E-mail: rla22@cumc.columbia.edu
Affiliations Department of Ophthalmology, Columbia University, New York, New York, United States of America, Department of Pathology & Cell Biology, Columbia University, New York, New York, United States of America
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Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease
- Jana Zernant,
- Winston Lee,
- Jun Wang,
- Kerry Goetz,
- Ehsan Ullah,
- Takayuki Nagasaki,
- Pei-Yin Su,
- Gerald A. Fishman,
- Stephen H. Tsang,
- Santa J. Tumminia
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- Published: March 30, 2022
- https://doi.org/10.1371/journal.pgen.1010129