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Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2Gene.
Pontikos N, Woof WA, Lin S, Ghoshal B, Mendes BS, Veturi A, Nguyen Q, Javanmardi B, Georgiou M, Hustinx A, Ibarra-Arellano MA, Moghul I, Liu Y, Pfau K, Pfau M, Shah M, Yu J, Al-Khuzaei S, Wagner SK, Daich Varela M, Cabral de Guimarães TA, Sen S, Naik G, Sumodhee D, Fu DJ, Kabiri N, Furman J, Liefers B, Lee AY, De Silva SR, Marques C, Motta F, Fujinami-Yokokawa Y, Hardcastle AJ, Arno G, Lorenz B, Herrmann P, Fujinami K, Sallum J, Madhusudhan S, Downes SM, Holz FG, Balaskas K, Webster AR, Mahroo OA, Krawitz PM, Michaelides M. Pontikos N, et al. Among authors: webster ar. Nat Mach Intell. 2025;7(6):967-978. doi: 10.1038/s42256-025-01040-8. Epub 2025 Jun 18. Nat Mach Intell. 2025. PMID: 40567353 Free PMC article.
Recognizing Variants Prevalent in Particular Ancestries.
Mahroo OA, Lin S, Webster AR. Mahroo OA, et al. Among authors: webster ar. JAMA Ophthalmol. 2025 Jun 18. doi: 10.1001/jamaophthalmol.2025.1695. Online ahead of print. JAMA Ophthalmol. 2025. PMID: 40531515 No abstract available.
Natural History of Autosomal Recessive IMPG2-associated Retinal Dystrophy.
Georgiou M, Fujinami K, Fujinami-Yokokawa Y, Nasser F, Gale MJ, Ayuso C, Mahroo OA, Pontikos N, Bouzia Z, Jimenez-Rolando B, Carreño E, Baraas RC, Holtan JP, Bragadottir R, Thiadens AAHJ, Pechhacker MG, Vincent A, Héon E, Altalbishi A, Maldonado RS, Neidhardt J, Kousal B, Lišková P, Bertelsen M, Larsen LM, Pennesi ME, Kohl S, Wissinger B, Zrenner E, Webster AR, Michaelides M. Georgiou M, et al. Among authors: webster ar. Am J Ophthalmol. 2025 Jun 6:S0002-9394(25)00282-X. doi: 10.1016/j.ajo.2025.05.044. Online ahead of print. Am J Ophthalmol. 2025. PMID: 40484299 Free article.
Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial Disorder.
Jurkute N, Brennenstuhl H, Kustermann M, Van Haute L, Mutti CD, Bugiardini E, Handa T, Shimura M, Petzold A, Acheson J, Robson AG, Macken WL, Hanna MG, Pitceathly RDS, Merve A, Kotzaeridou U, Kölker S, Freilinger M, Erdler M, Bittner RE, Mayr JA, Okazaki Y, Murayama K, Prokisch H, Webster AR, Minczuk M, Arno G, Pemp B, Hoffmann GF, Schmidt WM, Yu-Wai-Man P. Jurkute N, et al. Among authors: webster ar. Invest Ophthalmol Vis Sci. 2025 Jun 2;66(6):17. doi: 10.1167/iovs.66.6.17. Invest Ophthalmol Vis Sci. 2025. PMID: 40465263 Free PMC article.
Inherited retinal disease pathway in the UK: a patient perspective and the potential of AI.
Wong W, Sumodhee D, Morris T, Tailor B, Hollyhead C, Woof WA, Archer S, Veal C, Lobo L, Al-Khuzaei S, Daich Varela M, C de Guimaraes TA, Gomes M, Shah M, Moosajee M, Downes SM, Madhusudhan S, Mahroo OA, Webster AR, Michaelides M, Pontikos N. Wong W, et al. Among authors: webster ar. Br J Ophthalmol. 2025 Jun 26:bjo-2024-327074. doi: 10.1136/bjo-2024-327074. Online ahead of print. Br J Ophthalmol. 2025. PMID: 40345840 Free article.
401 results