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Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes.
Georgiou M, Robson AG, Fujinami K, de Guimarães TAC, Fujinami-Yokokawa Y, Daich Varela M, Pontikos N, Kalitzeos A, Mahroo OA, Webster AR, Michaelides M. Georgiou M, et al. Among authors: daich varela m. Prog Retin Eye Res. 2024 May;100:101244. doi: 10.1016/j.preteyeres.2024.101244. Epub 2024 Jan 24. Prog Retin Eye Res. 2024. PMID: 38278208 Review.
Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort.
Lin S, Vermeirsch S, Pontikos N, Martin-Gutierrez MP, Daich Varela M, Malka S, Schiff E, Knight H MSc, Wright G, Jurkute N, Simcoe MJ, Yu-Wai-Man P, Moosajee M, Michaelides M, Mahroo OA, Webster AR, Arno G. Lin S, et al. Among authors: daich varela m. Ophthalmol Retina. 2024 Jan 12:S2468-6530(24)00013-7. doi: 10.1016/j.oret.2024.01.012. Online ahead of print. Ophthalmol Retina. 2024. PMID: 38219857 Free article.
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease.
Dueñas Rey A, Del Pozo Valero M, Bouckaert M, Wood KA, Van den Broeck F, Daich Varela M, Thomas HB, Van Heetvelde M, De Bruyne M, Van de Sompele S, Bauwens M, Lenaerts H, Mahieu Q, Josifova D; Genomics England Research Consortium; Rivolta C, O'Keefe RT, Ellingford J, Webster AR, Arno G, Ayuso C, De Zaeytijd J, Leroy BP, De Baere E, Coppieters F. Dueñas Rey A, et al. Among authors: daich varela m. Genome Med. 2024 Jan 6;16(1):7. doi: 10.1186/s13073-023-01277-1. Genome Med. 2024. PMID: 38184646 Free PMC article.
Clinical and Genetic Characterization of RDH12-Retinal Dystrophy in a South American Cohort.
Daich Varela M, Moya R, Azevedo Souza Amaral R, Schlottmann PG, Álvarez Mendiara A, Francone A, Guazi Resende R, Capalbo L, Gelvez N, López G, Morales-Acevedo AM, Ossa RH, Arno G, Michaelides M, Tamayo ML, Ferraz Sallum JM. Daich Varela M, et al. Ophthalmol Retina. 2024 Feb;8(2):163-173. doi: 10.1016/j.oret.2023.09.007. Epub 2023 Sep 13. Ophthalmol Retina. 2024. PMID: 37714431 Free article.
36 results