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KCNV2-associated retinopathy: genotype-phenotype correlations - KCNV2 study group report 3.
de Guimaraes TAC, Georgiou M, Robson AG, Fujinami K, Vincent A, Nasser F, Khateb S, Mahroo OA, Pontikos N, Vargas ME, Thiadens AAHJ, Carvalho ER, Nguyen XT, Arno G, Fujinami-Yokokawa Y, Liu X, Tsunoda K, Hayashi T, Jiménez-Rolando B, Martin-Merida MI, Avila-Fernandez A, Salas EC, Garcia-Sandoval B, Ayuso C, Sharon D, Kohl S, Huckfeldt RM, Banin E, Pennesi ME, Khan AO, Wissinger B, Webster AR, Heon E, Boon CJF, Zrenner E, Michaelides M. de Guimaraes TAC, et al. Among authors: mahroo oa. Br J Ophthalmol. 2023 Oct 18:bjo-2023-323640. doi: 10.1136/bjo-2023-323640. Online ahead of print. Br J Ophthalmol. 2023. PMID: 37852740 Free article.
Sub-cellular level resolution of common genetic variation in the photoreceptor layer identifies continuum between rare disease and common variation.
Currant H, Fitzgerald TW, Patel PJ, Khawaja AP; UK Biobank Eye and Vision Consortium; Webster AR, Mahroo OA, Birney E. Currant H, et al. Among authors: mahroo oa. PLoS Genet. 2023 Feb 27;19(2):e1010587. doi: 10.1371/journal.pgen.1010587. eCollection 2023 Feb. PLoS Genet. 2023. PMID: 36848389 Free PMC article.
SynthEye: Investigating the Impact of Synthetic Data on Artificial Intelligence-assisted Gene Diagnosis of Inherited Retinal Disease.
Veturi YA, Woof W, Lazebnik T, Moghul I, Woodward-Court P, Wagner SK, Cabral de Guimarães TA, Daich Varela M, Liefers B, Patel PJ, Beck S, Webster AR, Mahroo O, Keane PA, Michaelides M, Balaskas K, Pontikos N. Veturi YA, et al. Ophthalmol Sci. 2022 Nov 22;3(2):100258. doi: 10.1016/j.xops.2022.100258. eCollection 2023 Jun. Ophthalmol Sci. 2022. PMID: 36685715 Free PMC article.
RBP3-Retinopathy-Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping.
Georgiou M, Fujinami K, Robson AG, Fujinami-Yokokawa Y, Shakarchi AF, Ji MH, Uwaydat SH, Kim A, Kolesnikova M, Arno G, Pontikos N, Mahroo OA, Tsang SH, Webster AR, Michaelides M. Georgiou M, et al. Among authors: mahroo oa. Am J Ophthalmol. 2024 Feb;258:119-129. doi: 10.1016/j.ajo.2023.09.025. Epub 2023 Oct 7. Am J Ophthalmol. 2024. PMID: 37806543 Free PMC article.
150 results