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An Overview of the Genetics of ABCA4 Retinopathies, an Evolving Story.
Al-Khuzaei S, Broadgate S, Foster CR, Shah M, Yu J, Downes SM, Halford S. Al-Khuzaei S, et al. Among authors: shah m. Genes (Basel). 2021 Aug 13;12(8):1241. doi: 10.3390/genes12081241. Genes (Basel). 2021. PMID: 34440414 Free PMC article. Review.
Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes.
Feenstra HM, Al-Khuzaei S, Shah M, Broadgate S, Shanks M, Kamath A, Yu J, Jolly JK, MacLaren RE, Clouston P, Halford S, Downes SM. Feenstra HM, et al. Among authors: shah m. Genes (Basel). 2022 Aug 10;13(8):1423. doi: 10.3390/genes13081423. Genes (Basel). 2022. PMID: 36011334 Free PMC article.
Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene).
Nguyen Q, Woof W, Kabiri N, Sen S, Daich Varela M, Cabral De Guimaraes TA, Shah M, Sumodhee D, Moghul I, Al-Khuzaei S, Liu Y, Hollyhead C, Tailor B, Lobo L, Veal C, Archer S, Furman J, Arno G, Gomes M, Fujinami K, Madhusudhan S, Mahroo OA, Webster AR, Balaskas K, Downes SM, Michaelides M, Pontikos N; Eye2Gene Patient Advisory Group. Nguyen Q, et al. Among authors: shah m. BMJ Open. 2023 Mar 20;13(3):e071043. doi: 10.1136/bmjopen-2022-071043. BMJ Open. 2023. PMID: 36940949 Free PMC article.
Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of More Than 3500 Inherited Retinal Disease Patients from the United Kingdom.
Woof W, de Guimarães TAC, Al-Khuzaei S, Daich Varela M, Sen S, Bagga P, Mendes B, Shah M, Burke P, Parry D, Lin S, Naik G, Ghoshal B, Liefers B, Fu DJ, Georgiou M, Nguyen Q, da Silva AS, Liu Y, Fujinami-Yokokawa Y, Sumodhee D, Patel P, Furman J, Moghul I, Moosajee M, Sallum J, De Silva SR, Lorenz B, Holz F, Fujinami K, Webster AR, Mahroo O, Downes SM, Madhusudhan S, Balaskas K, Michaelides M, Pontikos N. Woof W, et al. Among authors: shah m. medRxiv [Preprint]. 2024 Aug 14:2024.03.24.24304809. doi: 10.1101/2024.03.24.24304809. medRxiv. 2024. PMID: 38585957 Free PMC article. Preprint.
7,835 results