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R. Ratnapriya · SciRah

Researcher profile · Semantic Scholar

R. Ratnapriya

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R. Ratnapriya — researcher profile on SciRah

h-index: 32
Works: 80
Citations: 4,351

Most-cited papers

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants
Lars G. Fritsche, W. Igl, J. C. Cooke Bailey, F. Grassmann +158 more
2015Nature Genetics1,477 citations Open access
Semantic Scholar
Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration
R. Ratnapriya, O. Sosina, Margaret R. Starostik, Madeline Kwicklis +13 more
2019Nature Genetics296 citations Open access
Semantic Scholar
Molecular anatomy of the developing human retina
A. Hoshino, R. Ratnapriya, M. Brooks, V. Chaitankar +13 more
2017Developmental Cell226 citations Open access
Semantic Scholar
Progresssion of geographic atrophy in age-related macular degeneration: AREDS2 Report number 16
T. Keenan, E. Agrón, A. Domalpally, T. Clemons +10 more
2018Ophthalmology (Rochester, Minn.)204 citations Open access
Semantic Scholar
Age-related Macular Degeneration- Clinical review and genetics update
R. Ratnapriya, E. Chew
2013Clinical Genetics188 citations Open access
Semantic Scholar
Identification of a Rare Coding Variant in Complement 3 Associated with Age-related Macular Degeneration
Xiao-Wei Zhan, D. Larson, Chao-Long Wang, D. Koboldt +56 more
2013Nature Genetics182 citations Open access
Semantic Scholar
No Clinically Significant Association Between CFH and ARMS2 Genotypes and Response to Nutritional Supplements
E. Chew, M. Klein, T. Clemons, E. Agrón +5 more
2014Ophthalmology (Rochester, Minn.)89 citations Open access
Semantic Scholar
Genome-wide analysis of disease progression in age-related macular degeneration
Qi Yan, Ying Ding, Yi Liu, Tao Sun +13 more
2018Human Molecular Genetics88 citations Open access
Semantic Scholar
Increased Retinal mtDNA Damage in the CFH Variant Associated with Age-Related Macular Degeneration
Deborah A. Ferrington, Rebecca J. Kapphahn, Michaela M. Leary, Shari R. Atilano +7 more
2016Experimental Eye Research85 citations Open access
Semantic Scholar
Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies
Avigail Beryozkin, Elia Shevah, A. Kimchi, L. Mizrahi‐Meissonnier +19 more
2015Scientific Reports84 citations Open access
Semantic Scholar
Clinical and Genetic Factors Associated with Progression of Geographic Atrophy Lesions in Age-Related Macular Degeneration
F. Grassmann, M. Fleckenstein, E. Chew, Tobias Strunz +7 more
2015PLoS ONE84 citations Open access
Semantic Scholar
OTX2 loss causes rod differentiation defect in CRX-associated congenital blindness.
J. Roger, Avinash Hiriyanna, N. Gotoh, Hong Hao +5 more
2014Journal of Clinical Investigation75 citations Open access
Semantic Scholar
An idiopathic epilepsy syndrome linked to 3q13.3‐q21 and missense mutations in the extracellular calcium sensing receptor gene
A. Kapoor, P. Satishchandra, R. Ratnapriya, Ramesh Reddy +3 more
2008Annals of Neurology75 citations
Semantic Scholar
Next Generation Sequencing Technology and Genomewide Data Analysis: Perspectives for Retinal Research
V. Chaitankar, G. Karakülah, R. Ratnapriya, Felipe O. Giuste +2 more
2016Progress in retinal and eye research73 citations Open access
Semantic Scholar
Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration.
R. Ratnapriya, Xiao-Wei Zhan, R. Fariss, K. Branham +63 more
2014Human Molecular Genetics65 citations Open access
Semantic Scholar
Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits
F. Grassmann, C. Kiel, M. Zimmermann, M. Gorski +161 more
2017Genome Medicine62 citations Open access
Semantic Scholar
Bivariate Analysis of Age-Related Macular Degeneration Progression Using Genetic Risk Scores
Ying Ding, Yi Liu, Qi Yan, Lars G. Fritsche +9 more
2017Genetics57 citations Open access
Semantic Scholar
Vision from next generation sequencing: Multi-dimensional genome-wide analysis for producing gene regulatory networks underlying retinal development, aging and disease
Hyun-jin Yang, R. Ratnapriya, T. Cogliati, Jung-Woong Kim +1 more
2015Progress in retinal and eye research55 citations Open access
Semantic Scholar
EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression
David B. McGuigan, E. Héon, A. Cideciyan, R. Ratnapriya +8 more
2017Genes54 citations Open access
Semantic Scholar
A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma.
Chunqiao Liu, Sonya A. Widen, K. Williamson, R. Ratnapriya +13 more
2016Human Molecular Genetics49 citations Open access
Semantic Scholar
Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma
Laurence H. M. Pierrache, A. Kimchi, R. Ratnapriya, L. Roberts +17 more
2017Ophthalmology (Rochester, Minn.)45 citations Open access
Semantic Scholar
Genetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing
R. Ratnapriya, A. Swaroop
2013Genome Medicine42 citations Open access
Semantic Scholar
Assessment of Novel Genome-Wide Significant Gene Loci and Lesion Growth in Geographic Atrophy Secondary to Age-Related Macular Degeneration.
F. Grassmann, Sebastian Harsch, Caroline Brandl, C. Kiel +13 more
2019JAMA ophthalmology40 citations Open access
Semantic Scholar
IL-17 Producing Lymphocytes Cause Dry Eye and Corneal Disease With Aging in RXRα Mutant Mouse
J. Alam, G. Yazdanpanah, R. Ratnapriya, Nicholas C. Borcherding +5 more
2022Frontiers in Medicine39 citations Open access
Semantic Scholar
A mega-analysis of expression quantitative trait loci in retinal tissue
Tobias Strunz, C. Kiel, F. Grassmann, R. Ratnapriya +8 more
2020PLoS Genetics39 citations Open access
Semantic Scholar
Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss.
Prasanthi Namburi, R. Ratnapriya, Samer Khateb, Csilla H. Lazar +11 more
2016American Journal of Human Genetics39 citations Open access
Semantic Scholar
A locus for autosomal dominant reflex epilepsy precipitated by hot water maps at chromosome 10q21.3-q22.3
R. Ratnapriya, P. Satishchandra, S. Kumar, G. Gadre +2 more
2009Human Genetics39 citations
Semantic Scholar
Familial autosomal dominant reflex epilepsy triggered by hot water maps to 4q24-q28
R. Ratnapriya, P. Satishchandra, S. Dilip, G. Gadre +1 more
2009Human Genetics38 citations
Semantic Scholar
QTL mapping of human retina DNA methylation identifies 87 gene-epigenome interactions in age-related macular degeneration
Jayshree Advani, P. Mehta, A. Hamel, Sudeep Mehrotra +13 more
2024Nature Communications36 citations Open access
Semantic Scholar
Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel.
Csilla H. Lazar, M. Mutsuddi, A. Kimchi, Lina Zelinger +7 more
2014Investigative Ophthalmology and Visual Science36 citations Open access
Semantic Scholar
A Deep Phenotype Association Study reveals specific phenotype associations with genetic variants in age-related macular degeneration
F. van Asten, M. Simmons, Ayush Singhal, T. Keenan +6 more
2017Ophthalmology (Rochester, Minn.)35 citations Open access
Semantic Scholar
Family-based exome sequencing identifies rare coding variants in age-related macular degeneration
R. Ratnapriya, I. E. Acar, M. Geerlings, K. Branham +15 more
2020Human Molecular Genetics32 citations Open access
Semantic Scholar
Single-cell transcriptional profiling of murine conjunctival immune cells reveals distinct populations expressing homeostatic and regulatory genes
J. Alam, G. Yazdanpanah, R. Ratnapriya, Nicholas C. Borcherding +3 more
2022Mucosal Immunology31 citations Open access
Semantic Scholar
REEP6 mediates trafficking of a subset of Clathrin-coated vesicles and is critical for rod photoreceptor function and survival
Shobi Veleri, Jacob Nellissery, B. Mishra, Souparnika H. Manjunath +16 more
2017Human Molecular Genetics30 citations Open access
Semantic Scholar
Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing
L. Roberts, R. Ratnapriya, M. du Plessis, V. Chaitankar +2 more
2016Investigative Ophthalmology and Visual Science25 citations Open access
Semantic Scholar
No 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
F. van Asten, Chi-Yang Chiu, E. Agrón, T. Clemons +5 more
2019Ophthalmology (Rochester, Minn.)24 citations Open access
Semantic Scholar
Association of age-related macular degeneration with complement activation products, smoking, and single nucleotide polymorphisms in South Carolinians of European and African descent
Bärbel Rohrer, A. Frazer-Abel, A. Leonard, R. Ratnapriya +6 more
2019Molecular Vision24 citations
Semantic Scholar
Non-syndromic 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
Csilla H. Lazar, A. Kimchi, Prasanthi Namburi, M. Mutsuddi +13 more
2015Human Mutation20 citations Open access
Semantic Scholar
QTL mapping of human retina DNA methylation identifies 87 gene-epigenome interactions in age-related macular degeneration
Jayshree Advani, Ximena Corso-Díaz, Madeline Kwicklis, F. van Asten +13 more
2023Research Square19 citations Open access
Semantic Scholar
Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss.
Prasanthi Namburi, R. Ratnapriya, Samer Khateb, Csilla H. Lazar +11 more
2016American Journal of Human Genetics17 citations Open access
Semantic Scholar
A locus for juvenile myoclonic epilepsy maps to 2q33–q36
R. Ratnapriya, J. Vijai, J. Kadandale, R. Iyer +2 more
2010Human Genetics17 citations
Semantic Scholar
A novel genetic locus for juvenile myoclonic epilepsy at chromosome 5q12–q14
A. Kapoor, R. Ratnapriya, G. Kuruttukulam, A. Anand
2007Human Genetics16 citations
Semantic Scholar
A unique PRDM13-associated variant in a Georgian Jewish family with probable North Carolina macular dystrophy and the possible contribution of a unique CFH variant
Prasanthi Namburi, Samer Khateb, Segev Meyer, Tom Bentovim +6 more
2020Molecular Vision15 citations
Semantic Scholar
A Novel ARL3 Gene Mutation Associated With Autosomal Dominant Retinal Degeneration
R. Ratnapriya, S. Jacobson, A. Cideciyan, M. A. English +4 more
2021Frontiers in Cell and Developmental Biology13 citations Open access
Semantic Scholar
Association of Rare Predicted Loss-of-Function Variants in Cellular Pathways with Sub-Phenotypes in Age-Related Macular Degeneration
Alexandra A. Pietraszkiewicz, F. van Asten, Alan M. Kwong, R. Ratnapriya +3 more
2017Ophthalmology (Rochester, Minn.)13 citations Open access
Semantic Scholar
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants
Lars G. Fritsche, W. Igl, J. C. Cooke Bailey, F. Grassmann +136 more
201512 citations
Semantic Scholar
Whole genome sequencing of 4,787 individuals identifies gene-based rare variants in age-related macular degeneration.
Alan M. Kwong, M. Zawistowski, Lars G. Fritsche, Xiao-Wei Zhan +10 more
2023Human Molecular Genetics11 citations Open access
Semantic Scholar
Integrating explainable machine learning and transcriptomics data reveals cell-type specific immune signatures underlying macular degeneration
Khang Ma, H. Nakajima, N. Basak, Arko Barman +1 more
2024npj Genomic Medicine9 citations Open access
Semantic Scholar
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants
Lars G. Fritsche, W. Igl, J. C. Cooke Bailey, F. Grassmann +136 more
20158 citations
Semantic Scholar
Making Biological Sense of Genetic Studies of Age-Related Macular Degeneration.
Nivedita Singh, A. Swaroop, R. Ratnapriya
2021Advances in Experimental Medicine and Biology7 citations
Semantic Scholar

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