Biblio

Author Title Type [ Year(Asc)]
Filters: Author is Michaelides, Michel  [Clear All Filters]
2024
Sladen PE, Naeem A, Adefila-Ideozu T, Vermeule T, Busson SL, Michaelides M, Naylor S, Forbes A, Lane A, Georgiadis A. AAV-RPGR Gene Therapy Rescues Opsin Mislocalisation in a Human Retinal Organoid Model of -Associated X-Linked Retinitis Pigmentosa. Int J Mol Sci. 2024;25(3).
2023
Georgiou M, Fujinami K, Robson AG, Fujinami-Yokokawa Y, Shakarchi AF, Ji MH, Uwaydat SH, Kim A, Kolesnikova M, Arno G, et al. RBP3-retinopathy - inherited high myopia and retinal dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping. Am J Ophthalmol. 2023.
2021
Smedley D, Smith KR, Martin A, Thomas EA, McDonagh EM, Cipriani V, Ellingford JM, Arno G, Tucci A, Vandrovcova J, et al. 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report. N Engl J Med. 2021;385(20):1868-1880.
Ribeiro J, Procyk CA, West EL, O'Hara-Wright M, Martins MF, Khorasani MMoshtagh, Hare A, Basche M, Fernando M, Goh D, et al. Restoration of visual function in advanced disease after transplantation of purified human pluripotent stem cell-derived cone photoreceptors. Cell Rep. 2021;35(3):109022.
2020
de Bruijn SE, Fiorentino A, Ottaviani D, Fanucchi S, Melo US, Corral-Serrano JC, Mulders T, Georgiou M, Rivolta C, Pontikos N, et al. Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa. Am J Hum Genet. 2020.
2015
Kohl S, Zobor D, Chiang W-C, Weisschuh N, Staller J, Menendez IGonzalez, Chang S, Beck SC, Garrido MGarcia, Sothilingam V, et al. Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. Nat Genet. 2015.