Publications

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2019
Shurygina MF, Parker MA, Schlechter CL, Chen R, Li Y, Weleber RG, Yang P, Pennesi ME. A case report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants. BMC Ophthalmol. 2019 ;19(1):246.
Fasham J, Arno G, Lin S, Xu M, Carss KJ, Hull S, Lane A, Robson AG, Wenger O, Self JE, Harlalka GV, Salter CG, Schema L, Moss TJ, Cheetham ME, Moore AT, F Raymond L, Chen R, Baple EL, Webster AR, Crosby AH. Delineating the expanding phenotype associated with SCAPER gene mutation. Am J Med Genet A. 2019 ;179(8):1665-1671.
Zaneveld SAgrawal, Eblimit A, Liang Q, Bertrand R, Wu N, Liu H, Nguyen Q, Zaneveld J, Wang K, Li Y, Chen R. Gene Therapy Rescues Retinal Degeneration in Receptor Expression-Enhancing Protein 6 Mutant Mice. Hum Gene Ther. 2019 ;30(3):302-315.
Kim S, Lowe A, Dharmat R, Lee S, Owen LA, Wang J, Shakoor A, Li Y, Morgan DJ, Hejazi AA, Cvekl A, DeAngelis MM, Z Zhou J, Chen R, Liu W. Generation, transcriptome profiling, and functional validation of cone-rich human retinal organoids. Proc Natl Acad Sci U S A. 2019 ;116(22):10824-10833.
Gunasekara CJ, C Scott A, Laritsky E, Baker MS, MacKay H, Duryea JD, Kessler NJ, Hellenthal G, Wood AC, Hodges KR, Gandhi M, Hair AB, Silver MJ, Moore SE, Prentice AM, Li Y, Chen R, Coarfa C, Waterland RA. A genomic atlas of systemic interindividual epigenetic variation in humans. Genome Biol. 2019 ;20(1):105.
Moshiri A, Chen R, Kim S, Harris RA, Li Y, Raveendran M, Davis S, Liang Q, Pomerantz O, Wang J, Garzel L, Cameron A, Yiu G, J Stout T, Huang Y, Murphy CJ, Roberts J, Gopalakrishna KN, Boyd K, Artemyev NO, Rogers J, Thomasy SM. A nonhuman primate model of inherited retinal disease. J Clin Invest. 2019 ;129(2):863-874.
Zou X, Fu Q, Fang S, Li H, Ge Z, Yang L, Xu M, Sun Z, Li H, Li Y, Dong F, Chen R, Sui R. PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY. Retina. 2019 ;39(10):2040-2052.
Pearce W, Chen R, Jain N. Reply. Ophthalmology. 2019 ;126(7):e51-e52.
Liang Q, Dharmat R, Owen L, Shakoor A, Li Y, Kim S, Vitale A, Kim I, Morgan D, Liang S, Wu N, Chen K, DeAngelis MM, Chen R. Single-nuclei RNA-seq on human retinal tissue provides improved transcriptome profiling. Nat Commun. 2019 ;10(1):5743.
Park YH, Snook JD, Ostrin EJ, Kim S, Chen R, Frankfort BJ. Transcriptomic profiles of retinal ganglion cells are defined by the magnitude of intraocular pressure elevation in adult mice. Sci Rep. 2019 ;9(1):2594.
2018
Ge S, Xia X, Ding C, Zhen B, Zhou Q, Feng J, Yuan J, Chen R, Li Y, Ge Z, Ji J, Zhang L, Wang J, Li Z, Lai Y, Hu Y, Li Y, Li Y, Gao J, Chen L, Xu J, Zhang C, Jung SYun, Choi JMin, Jain A, Liu M, Song L, Liu W, Guo G, Gong T, Huang Y, Qiu Y, Huang W, Shi T, Zhu W, Wang Y, He F, Shen L, Qin J. Author Correction: A proteomic landscape of diffuse-type gastric cancer. Nat Commun. 2018 ;9(1):1850.
Eblimit A, Agrawal SAkshay, Thomas K, Anastassov IAssenov, Abulikemu T, Moayedi Y, Mardon G, Chen R. Conditional loss of Spata7 in photoreceptors causes progressive retinal degeneration in mice. Exp Eye Res. 2018 ;166:120-130.
Eblimit A, Agrawal SA, Thomas K, Anastassov IA, Abulikemu T, Moayedi Y, Mardon G, Chen R. Corrigendum to "Conditional loss of Spata7 in photoreceptors causes progressive retinal degeneration in mice" [Exp. Eye Res. 166 (2018) 120-130]. Exp Eye Res. 2018 ;171:119.
Wang J, Zhao L, Wang X, Chen Y, Xu M, Soens ZT, Ge Z, Wang PRonghan, Wang F, Chen R. GRIPT: a novel case-control analysis method for Mendelian disease gene discovery. Genome Biol. 2018 ;19(1):203.
Zhou Q, Yao F, Wang F, Li H, Chen R, Sui R. A heterozygous mutation in RPGR associated with X-linked retinitis pigmentosa in a patient with Turner syndrome mosaicism (45,X/46,XX). Am J Med Genet A. 2018 ;176(1):214-218.
Yeung K, Wang F, Li Y, Wang K, Mardon G, Chen R. Integrative genomic analysis reveals novel regulatory mechanisms of eyeless during Drosophila eye development. Nucleic Acids Res. 2018 ;46(22):11743-11758.
DuPont M, Jones EM, Xu M, Chen R. Investigating the disease association of USH2A p.C759F variant by leveraging large retinitis pigmentosa cohort data. Ophthalmic Genet. 2018 ;39(2):291-292.
Eblimit A, Zaneveld SAgrawal, Liu W, Thomas K, Wang K, Li Y, Mardon G, Chen R. NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype. Exp Eye Res. 2018 ;173:32-43.
Pearce WA, Chen R, Jain N. Pigmentary Maculopathy Associated with Chronic Exposure to Pentosan Polysulfate Sodium. Ophthalmology. 2018 ;125(11):1793-1802.
Ge S, Xia X, Ding C, Zhen B, Zhou Q, Feng J, Yuan J, Chen R, Li Y, Ge Z, Ji J, Zhang L, Wang J, Li Z, Lai Y, Hu Y, Li Y, Li Y, Gao J, Chen L, Xu J, Zhang C, Jung SYun, Choi JMin, Jain A, Liu M, Song L, Liu W, Guo G, Gong T, Huang Y, Qiu Y, Huang W, Shi T, Zhu W, Wang Y, He F, Shen L, Qin J. A proteomic landscape of diffuse-type gastric cancer. Nat Commun. 2018 ;9(1):1012.
Dharmat R, Eblimit A, Robichaux MA, Zhang Z, Nguyen T-MT, Jung SYun, He F, Jain A, Li Y, Qin J, Overbeek P, Roepman R, Mardon G, Wensel TG, Chen R. SPATA7 maintains a novel photoreceptor-specific zone in the distal connecting cilium. J Cell Biol. 2018 ;217(8):2851-2865.
Zhang L, Sun Z, Zhao P, Huang L, Xu M, Yang Y, Chen X, Lu F, Zhang X, Wang H, Zhang S, Liu W, Jiang Z, Ma S, Chen R, Zhao C, Yang Z, Sui R, Zhu X. Whole-exome sequencing revealed HKDC1 as a candidate gene associated with autosomal-recessive retinitis pigmentosa. Hum Mol Genet. 2018 ;27(23):4157-4168.