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Multiexon deletion alleles of ATF6 linked to achromatopsia.
Lee EJ, Chiang WJ, Kroeger H, Bi CX, Chao DL, Skowronska-Krawczyk D, Mastey RR, Tsang SH, Chea L, Kim K, Lambert SR, Grandjean JM, Baumann B, Audo I, Kohl S, Moore AT, Wiseman RL, Carroll J, Lin JH. Lee EJ, et al. Among authors: mastey rr. JCI Insight. 2020 Apr 9;5(7):e136041. doi: 10.1172/jci.insight.136041. JCI Insight. 2020. PMID: 32271167 Free PMC article. Clinical Trial.
ATF6 is essential for human cone photoreceptor development.
Kroeger H, Grandjean JMD, Chiang WJ, Bindels DD, Mastey R, Okalova J, Nguyen A, Powers ET, Kelly JW, Grimsey NJ, Michaelides M, Carroll J, Wiseman RL, Lin JH. Kroeger H, et al. Proc Natl Acad Sci U S A. 2021 Sep 28;118(39):e2103196118. doi: 10.1073/pnas.2103196118. Proc Natl Acad Sci U S A. 2021. PMID: 34561305 Free PMC article.
Characterization of Retinal Structure in ATF6-Associated Achromatopsia.
Mastey RR, Georgiou M, Langlo CS, Kalitzeos A, Patterson EJ, Kane T, Singh N, Vincent A, Moore AT, Tsang SH, Lin JH, Young MP, Hartnett ME, Héon E, Kohl S, Michaelides M, Carroll J. Mastey RR, et al. Invest Ophthalmol Vis Sci. 2019 Jun 3;60(7):2631-2640. doi: 10.1167/iovs.19-27047. Invest Ophthalmol Vis Sci. 2019. PMID: 31237654 Free PMC article.
Interocular Symmetry of Foveal Cone Topography in Congenital Achromatopsia.
Litts KM, Georgiou M, Langlo CS, Patterson EJ, Mastey RR, Kalitzeos A, Linderman RE, Lam BL, Fishman GA, Pennesi ME, Kay CN, Hauswirth WW, Michaelides M, Carroll J. Litts KM, et al. Among authors: mastey rr. Curr Eye Res. 2020 Oct;45(10):1257-1264. doi: 10.1080/02713683.2020.1737138. Epub 2020 Mar 13. Curr Eye Res. 2020. PMID: 32108519 Free PMC article.
Assessing Interocular Symmetry of the Foveal Cone Mosaic.
Cava JA, Allphin MT, Mastey RR, Gaffney M, Linderman RE, Cooper RF, Carroll J. Cava JA, et al. Among authors: mastey rr. Invest Ophthalmol Vis Sci. 2020 Dec 1;61(14):23. doi: 10.1167/iovs.61.14.23. Invest Ophthalmol Vis Sci. 2020. PMID: 33331861 Free PMC article.
Retinal alterations in patients with Lafora disease.
Heitkotter H, Linderman RE, Cava JA, Woertz EN, Mastey RR, Summerfelt P, Chui TY, Rosen RB, Patterson EJ, Vincent A, Carroll J, Minassian BA. Heitkotter H, et al. Among authors: mastey rr. Am J Ophthalmol Case Rep. 2021 Jun 15;23:101146. doi: 10.1016/j.ajoc.2021.101146. eCollection 2021 Sep. Am J Ophthalmol Case Rep. 2021. PMID: 34195479 Free PMC article.
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