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Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa.
de Bruijn SE, Fiorentino A, Ottaviani D, Fanucchi S, Melo US, Corral-Serrano JC, Mulders T, Georgiou M, Rivolta C, Pontikos N, Arno G, Roberts L, Greenberg J, Albert S, Gilissen C, Aben M, Rebello G, Mead S, Raymond FL, Corominas J, Smith CEL, Kremer H, Downes S, Black GC, Webster AR, Inglehearn CF, van den Born LI, Koenekoop RK, Michaelides M, Ramesar RS, Hoyng CB, Mundlos S, Mhlanga MM, Cremers FPM, Cheetham ME, Roosing S, Hardcastle AJ. de Bruijn SE, et al. Among authors: georgiou m. Am J Hum Genet. 2020 Nov 5;107(5):802-814. doi: 10.1016/j.ajhg.2020.09.002. Epub 2020 Oct 5. Am J Hum Genet. 2020. PMID: 33022222 Free PMC article.
Adaptive optics imaging of inherited retinal diseases.
Georgiou M, Kalitzeos A, Patterson EJ, Dubra A, Carroll J, Michaelides M. Georgiou M, et al. Br J Ophthalmol. 2018 Aug;102(8):1028-1035. doi: 10.1136/bjophthalmol-2017-311328. Epub 2017 Nov 15. Br J Ophthalmol. 2018. PMID: 29141905 Free PMC article. Review.
Deep Phenotyping of PDE6C-Associated Achromatopsia.
Georgiou M, Robson AG, Singh N, Pontikos N, Kane T, Hirji N, Ripamonti C, Rotsos T, Dubra A, Kalitzeos A, Webster AR, Carroll J, Michaelides M. Georgiou M, et al. Invest Ophthalmol Vis Sci. 2019 Dec 2;60(15):5112-5123. doi: 10.1167/iovs.19-27761. Invest Ophthalmol Vis Sci. 2019. PMID: 31826238 Free PMC article.
Juvenile Batten Disease (CLN3): Detailed Ocular Phenotype, Novel Observations, Delayed Diagnosis, Masquerades, and Prospects for Therapy.
Wright GA, Georgiou M, Robson AG, Ali N, Kalhoro A, Holthaus SK, Pontikos N, Oluonye N, de Carvalho ER, Neveu MM, Weleber RG, Michaelides M. Wright GA, et al. Among authors: georgiou m. Ophthalmol Retina. 2020 Apr;4(4):433-445. doi: 10.1016/j.oret.2019.11.005. Epub 2019 Nov 13. Ophthalmol Retina. 2020. PMID: 31926949 Free PMC article.
282 results