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A large animal model of RDH5-associated retinopathy recapitulates important features of the human phenotype.
Occelli LM, Daruwalla A, De Silva SR, Winkler PA, Sun K, Pasmanter N, Minella A, Querubin J, Lyons LA; 99 Lives Consortium; Robson AG, Heon E, Michaelides M, Webster AR, Palczewski K, Vincent A, Mahroo OA, Kiser PD, Petersen-Jones SM. Occelli LM, et al. Among authors: pasmanter n. Hum Mol Genet. 2022 Apr 22;31(8):1263-1277. doi: 10.1093/hmg/ddab316. Hum Mol Genet. 2022. PMID: 34726233 Free PMC article.
Residual rod function in CNGB1 mutant dogs.
Petersen-Jones SM, Pasmanter N, Occelli LM, Querubin JR, Winkler PA. Petersen-Jones SM, et al. Among authors: pasmanter n. Doc Ophthalmol. 2022 Dec;145(3):237-246. doi: 10.1007/s10633-022-09899-3. Epub 2022 Sep 15. Doc Ophthalmol. 2022. PMID: 36107278
Development of a translatable gene augmentation therapy for CNGB1-retinitis pigmentosa.
Occelli LM, Zobel L, Stoddard J, Wagner J, Pasmanter N, Querubin J, Renner LM, Reynaga R, Winkler PA, Sun K, Marinho LFLP, O'Riordan CR, Frederick A, Lauer A, Tsang SH, Hauswirth WW, McGill TJ, Neuringer M, Michalakis S, Petersen-Jones SM. Occelli LM, et al. Among authors: pasmanter n. Mol Ther. 2023 Jul 5;31(7):2028-2041. doi: 10.1016/j.ymthe.2023.04.005. Epub 2023 Apr 13. Mol Ther. 2023. PMID: 37056049 Free PMC article.
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