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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: mahroo oa. 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.
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: mahroo oa. 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.
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: mahroo oa. 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.
Variants in CFAP410 cause a range of retinal and skeletal phenotypes.
Schmidt RE, Pohodich AE, Birch D, Jones K, Lam BL, Jung EH, Jain N, Georgiou M, Mahroo OA, Webster AR, Michaelides M, Bakall B, Iannaccone A, Vincent A, Parameswarappa DC, Heon E, Scholl HPN, Janeschitz-Kriegl L, Traboulsi EI, Zein W, Brooks BP, Cukras C, Hufnagel R, Aleman TS, Sylla MM, Tsang SH, Alabek M, Sahel J, Gorin MB, van Genderen MM, Stingl K, Reith M, Kohl S, Amaral RAS, Sallum JMF, Vincent AL, Hull S, Duncan JL, Hanson JVM, Tedeus M, Maggi J, Graf U, Koller S, Berger W, Gerth-Kahlert C, Marra M, Everett LA, Yang P, Pennesi ME. Schmidt RE, et al. Among authors: mahroo oa. NPJ Genom Med. 2025 Apr 17;10(1):32. doi: 10.1038/s41525-025-00489-1. NPJ Genom Med. 2025. PMID: 40246852 Free PMC article.
179 results