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# = corresponding author
Ratnapriya R #, Jacobson SG, Cideciyan AV, English MA, Roman AJ, Sumaroka A, Sheplock R, Swaroop A. A Novel ARL3 Gene Mutation Associated With Autosomal Dominant Retinal Degeneration. Front Cell Dev Biol. 2021 Aug 17;9:720782.
Singh N, Swaroop A, Ratnapriya R. Making Biological Sense of Genetic Studies of Age-Related Macular Degeneration Adv Exp Med Biol. 2021;1256:201-219.
Ratnapriya R #, Acar İE, Geerlings MJ, Branham K, Kwong A, Saksens NTM, Pauper M, Corominas J, Kwicklis M, Zipprer D, Starostik MR, Othman M, Yashar B, Abecasis GR, Chew EY, Ferrington DA, Hoyng CB, Swaroop A#, den Hollander AI#. Family-based exome sequencing identifies rare coding variants in age-related macular degeneration. Hum Mol Genet. 2020;29:2022-34.
Ratnapriya R, Sosina OA, Starostik MR, Kwicklis M, Kapphahn RJ, Fritsche LG, Walton A, Arvanitis M, Gieser L, Pietraszkiewicz A, Montezuma SR, Chew EY, Battle A, Abecasis GR, Ferrington DA, Chatterjee N, Swaroop A. Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration. Nat Genet. 2019;51:606-10.
Hoshino A, Ratnapriya R, Brooks MJ, Chaitankar V, Wilken MS, Zhang C, Starostik MR, Gieser L, La Torre A, Nishio M, Bates O, Walton A, Bermingham-McDonogh O, Glass IA, Wong ROL, Swaroop A, Reh TA. Molecular anatomy of developing human retina. Dev Cell. 2017;43:763-779.
Fritsche et al., A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. Nat Genet. 2016;48:134-43.
Ratnapriya R, Zhan X, Fariss RN, Branham KE, Zipprer D et al., Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration. Hum Mol Genet 2014;23:5827-37.
Ratnapriya R #, Swaroop A. Genetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing. Genome Med. 2013;5:84. doi: 10.1186/gm488. eCollection 2013.
Ratna Priya et al., Genetic studies of Age-related macular degeneration: lessons, challenges and opportunities for disease management. Ophthalmology. 2012;119:2526-36.