Publications

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2022
Qian X, Liu H, Fu S, Lu J, Hung Y-T, Turner C, Gu H, Chen R. AAV8-Mediated Gene Therapy Rescues Retinal Degeneration Phenotype in a Tlcd3b Knockout Mouse Model. Invest Ophthalmol Vis Sci. 2022 ;63(3):11.
Matynia A, Wang J, Kim S, Li Y, Dimashkie A, Jiang Z, Hu J, Strom SP, Radu RA, Chen R, Gorin MB. Assessing Variant Causality and Severity Using Retinal Pigment Epithelial Cells Derived from Stargardt Disease Patients. Transl Vis Sci Technol. 2022 ;11(3):33.
M Casanova I, Chen R, Garzel LM, Olstad KJ, Kim S, Harris RA, Li Y, Raveendran M, Liang Q, Wang J, Yiu G, Stout JTimothy, Roberts JA, Rogers J, Moshiri A, Thomasy SM. Clinical presentation, treatment, and genetic and histopathological analysis of juvenile cataracts and secondary glaucoma in a rhesus macaque (Macaca mulatta). J Med Primatol. 2022 ;51(2):119-123.
Bertrand RElaine, Wang J, Li Y, Cheng X, Wang K, Stoilov P, Chen R. Cwc27, associated with retinal degeneration, functions as a splicing factor in vivo. Hum Mol Genet. 2022 ;31(8):1278-1292.
Marques JPedro, Porto FBelga Otto, Carvalho ALuísa, Neves E, Chen R, Sampaio SAparecida, Murta J, Saraiva J, Silva R. EYS-Associated Sector Retinitis Pigmentosa. Graefes Arch Clin Exp Ophthalmol. 2022 ;260(4):1405-1413.
Millo T, Rivera A, Obolensky A, Marks-Ohana D, Xu M, Li Y, Wilhelm E, Gopalakrishnan P, Gross M, Rosin B, Hanany M, Webster A, Tracewska AMaria, Koenekoop RK, Chen R, Arno G, Schueler-Furman O, Roosing S, Banin E, Sharon D. Identification of autosomal recessive novel genes and retinal phenotypes in members of the solute carrier (SLC) superfamily. Genet Med. 2022 ;24(7):1523-1535.
Lopez AJacobo, Kim S, Qian X, Rogers J, J Stout T, Thomasy SM, La Torre A, Chen R, Moshiri A. Retinal organoids derived from rhesus macaque iPSCs undergo accelerated differentiation compared to human stem cells. Cell Prolif. 2022 ;55(4):e13198.
MacKay H, Gunasekara CJ, Yam K-Y, Srisai D, Yalamanchili HKrishna, Li Y, Chen R, Coarfa C, Waterland RA. Sex-specific epigenetic development in the mouse hypothalamic arcuate nucleus pinpoints human genomic regions associated with body mass index. Sci Adv. 2022 ;8(39):eabo3991.
Yeung K, Raja KKumar Boll, Shim Y-K, Li Y, Chen R, Mardon G. Single cell RNA sequencing of the adult Drosophila eye reveals distinct clusters and novel marker genes for all major cell types. Commun Biol. 2022 ;5(1):1370.
Lu J, Xiong K, Qian X, Choi J, Shim Y-K, Burnett J, Mardon G, Chen R. Spata7 is required for maintenance of the retinal connecting cilium. Sci Rep. 2022 ;12(1):5575.
2021
Lin KH, Tran T, Kim S, Park S, J Stout T, Chen R, Rogers J, Yiu G, Thomasy S, Moshiri A. Advanced Retinal Imaging and Ocular Parameters of the Rhesus Macaque Eye. Transl Vis Sci Technol. 2021 ;10(6):7.
Lin KH, Tran T, Kim S, Park S, Chen J, J Stout T, Chen R, Rogers J, Yiu G, Thomasy S, Moshiri A. Age-related changes in the rhesus macaque eye. Exp Eye Res. 2021 ;212:108754.
Bertrand RElaine, Wang J, Xiong KH, Thangavel C, Qian X, Ba-Abbad R, Liang Q, Simões RT, Sampaio SAM, Carss KJ, F Raymond L, Robson AG, Webster AR, Arno G, Porto FBelga Otto, Chen R. Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy. Genet Med. 2021 ;23(3):488-497.
Qian X, Wang J, Wang M, Igelman AD, Jones KD, Li Y, Wang K, Goetz KE, Birch DG, Yang P, Pennesi ME, Chen R. Identification of Deep-Intronic Splice Mutations in a Large Cohort of Patients With Inherited Retinal Diseases. Front Genet. 2021 ;12:647400.
Zou G, Zhang T, Cheng X, Igelman AD, Wang J, Qian X, Fu S, Wang K, Koenekoop RK, Fishman GA, Yang P, Li Y, Pennesi ME, Chen R. Noncoding mutation in contributes to inherited retinal degenerations. Mol Vis. 2021 ;27:95-106.
Wang J, Liu H, Bertrand RElaine, Sarrion-Perdigones A, Gonzalez Y, Venken KJT, Chen R. A novel statistical method for interpreting the pathogenicity of rare variants. Genet Med. 2021 ;23(1):59-68.
Li J-M, Kim S, Zhang Y, Bian F, Hu J, Lu R, Pflugfelder SC, Chen R, Li D-Q. Single-Cell Transcriptomics Identifies a Unique Entity and Signature Markers of Transit-Amplifying Cells in Human Corneal Limbus. Invest Ophthalmol Vis Sci. 2021 ;62(9):36.
Li D-Q, Kim S, Li J-M, Gao Q, Choi J, Bian F, Hu J, Zhang Y, Li J, Lu R, Li Y, Pflugfelder SC, Miao H, Chen R. Single-cell transcriptomics identifies limbal stem cell population and cell types mapping its differentiation trajectory in limbal basal epithelium of human cornea. Ocul Surf. 2021 ;20:20-32.
Liang Q, Wu N, Zaneveld S, Liu H, Fu S, Wang K, Bertrand R, Wang J, Li Y, Chen R. Transcript isoforms of Reep6 have distinct functions in the retina. Hum Mol Genet. 2021 ;30(21):1907-1918.
da Palma MMatioli, Vargas ME, Burr A, Chen R, Pennesi ME, Weleber RG, Yang P. Variable expressivity of -associated autosomal dominant vitreoretinochoroidopathy (ADVIRC) in a three-generation pedigree. BMJ Open Ophthalmol. 2021 ;6(1):e000813.