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Author Details

Rinki Ratnapriya
National Eye Institute, National Institutes of Health
2007
51
25
PMIDPaper TitleJournal TitlePublished Year
37934784Whole genome sequencing of 4,787 individuals identifies gene-based rare variants in age-related macular degeneration.Hum Mol Genet2024
37398472QTL mapping of human retina DNA methylation identifies 87 gene-epigenome interactions in age-related macular degeneration.Res Sq2023
37440015The Role of Gene Expression Regulation on Genetic Risk of Age-Related Macular Degeneration.Adv Exp Med Biol2023
35361907Single-cell transcriptional profiling of murine conjunctival immune cells reveals distinct populations expressing homeostatic and regulatory genes.Mucosal Immunol2022
35402439IL-17 Producing Lymphocytes Cause Dry Eye and Corneal Disease With Aging in RXRα Mutant Mouse.Front Med (Lausanne)2022
34485303A Novel <i>ARL3</i> Gene Mutation Associated With Autosomal Dominant Retinal Degeneration.Front Cell Dev Biol2021
33848003Making Biological Sense of Genetic Studies of Age-Related Macular Degeneration.Adv Exp Med Biol2021
32246154Family-based exome sequencing identifies rare coding variants in age-related macular degeneration.Hum Mol Genet2020
32087877Reply.Ophthalmology2020
32870927A mega-analysis of expression quantitative trait loci in retinal tissue.PLoS Genet2020
32476814A unique PRDM13-associated variant in a Georgian Jewish family with probable North Carolina macular dystrophy and the possible contribution of a unique CFH variant.Mol Vis2020
30820144Association of age-related macular degeneration with complement activation products, smoking, and single nucleotide polymorphisms in South Carolinians of European and African descent.Mol Vis2019
31884625Applications of Genomic Technologies in Retinal Degenerative Diseases.Adv Exp Med Biol2019
31358387No CFH or ARMS2 Interaction with Omega-3 Fatty Acids, Low versus High Zinc, or β-Carotene versus Lutein and Zeaxanthin on Progression of Age-Related Macular Degeneration in the Age-Related Eye Disease Study 2: Age-Related Eye Disease Study 2 Report No. 18.Ophthalmology2019
30742112Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration.Nat Genet2019
31120506Assessment of Novel Genome-Wide Significant Gene Loci and Lesion Growth in Geographic Atrophy Secondary to Age-Related Macular Degeneration.JAMA Ophthalmol2019
29096998A Deep Phenotype Association Study Reveals Specific Phenotype Associations with Genetic Variants in Age-related Macular Degeneration: Age-Related Eye Disease Study 2 (AREDS2) Report No. 14.Ophthalmology2018
30060980Progression of Geographic Atrophy in Age-related Macular Degeneration: AREDS2 Report Number 16.Ophthalmology2018
29224928Association of Rare Predicted Loss-of-Function Variants in Cellular Pathways with Sub-Phenotypes in Age-Related Macular Degeneration.Ophthalmology2018
29346644Genome-wide analysis of disease progression in age-related macular degeneration.Hum Mol Genet2018
28704921EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression.Genes (Basel)2017
28412069Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.Ophthalmology2017
28369466REEP6 mediates trafficking of a subset of Clathrin-coated vesicles and is critical for rod photoreceptor function and survival.Hum Mol Genet2017
28341650Bivariate Analysis of Age-Related Macular Degeneration Progression Using Genetic Risk Scores.Genetics2017
29233477Molecular Anatomy of the Developing Human Retina.Dev Cell2017
26691988A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.Nat Genet2016
27588452Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss.Am J Hum Genet2016
27814526Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss.Am J Hum Genet2016
27898983Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing.Invest Ophthalmol Vis Sci2016
27297499Next generation sequencing technology and genomewide data analysis: Perspectives for retinal research.Prog Retin Eye Res2016
26854823Increased retinal mtDNA damage in the CFH variant associated with age-related macular degeneration.Exp Eye Res2016
26908622A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma.Hum Mol Genet2016
25668385Vision from next generation sequencing: multi-dimensional genome-wide analysis for producing gene regulatory networks underlying retinal development, aging and disease.Prog Retin Eye Res2015
26306921Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies.Sci Rep2015
26077327Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF.Hum Mutat2015
25962167Clinical and genetic factors associated with progression of geographic atrophy lesions in age-related macular degeneration.PLoS One2015
24382353OTX2 loss causes rod differentiation defect in CRX-associated congenital blindness.J Clin Invest2014
25515582Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel.Invest Ophthalmol Vis Sci2014
24974817No clinically significant association between CFH and ARMS2 genotypes and response to nutritional supplements: AREDS report number 38.Ophthalmology2014
24899048Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration.Hum Mol Genet2014
23455636Seven new loci associated with age-related macular degeneration.Nat Genet2013
24036949Identification of a rare coding variant in complement 3 associated with age-related macular degeneration.Nat Genet2013
24112618Genetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing.Genome Med2013
23713713Age-related macular degeneration-clinical review and genetics update.Clin Genet2013
22688718Exome sequencing: capture and sequencing of all human coding regions for disease gene discovery.Methods Mol Biol2012
23009893Genetic studies of age-related macular degeneration: lessons, challenges, and opportunities for disease management.Ophthalmology2012
20467754A locus for juvenile myoclonic epilepsy maps to 2q33-q36.Hum Genet2010
19266219A locus for autosomal dominant reflex epilepsy precipitated by hot water maps at chromosome 10q21.3-q22.3.Hum Genet2009
19597845Familial autosomal dominant reflex epilepsy triggered by hot water maps to 4q24-q28.Hum Genet2009
18756473An idiopathic epilepsy syndrome linked to 3q13.3-q21 and missense mutations in the extracellular calcium sensing receptor gene.Ann Neurol2008
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Collaborators

National Eye Institute, National Institutes of Health
Co-authored papers 41
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Co-authored papers 19
Casey Eye Institute, Oregon Health & Science University
Co-authored papers 12
Regeneron Pharmaceuticals Inc.
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Co-authored papers 7
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Karolinska Institutet
Co-authored papers 6
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Co-authored papers 6
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Division of Epidemiology and Clinical Applications, National Eye Institute
Co-authored papers 5
Scheie Eye Institute, Perelman School of Medicine, University of Pennsylvania
Co-authored papers 5
Boston University Chobanian & Avedisian School of Medicine
Co-authored papers 4
Cleveland Institute for Computational Biology, Case Western Reserve University
Co-authored papers 4
University of Bonn
Co-authored papers 4
Southwestern Medical Center, University of Texas
Co-authored papers 4
Erasmus Medical Center
Co-authored papers 4
Jules Stein Eye Institute
Co-authored papers 4
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TheScripps Research Institute
Co-authored papers 3
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University of Oxford
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Royal Victorian Eye and Ear Hospital, the University of Melbourne
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Co-authored papers 3
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 3
University of Southampton
Co-authored papers 3
The University of Melbourne
Co-authored papers 3