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2020 2
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2023 2
2024 1

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Page 1
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: al khuzaei s. Genes (Basel). 2022 Aug 10;13(8):1423. doi: 10.3390/genes13081423. Genes (Basel). 2022. PMID: 36011334 Free PMC article.
The Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy Associated with Variants in the GUCY2D Gene.
Hahn LC, Georgiou M, Almushattat H, van Schooneveld MJ, de Carvalho ER, Wesseling NL, Ten Brink JB, Florijn RJ, Lissenberg-Witte BI, Strubbe I, van Cauwenbergh C, de Zaeytijd J, Walraedt S, de Baere E, Mukherjee R, McKibbin M, Meester-Smoor MA, Thiadens AAHJ, Al-Khuzaei S, Akyol E, Lotery AJ, van Genderen MM, Ossewaarde-van Norel J, van den Born LI, Hoyng CB, Klaver CCW, Downes SM, Bergen AA, Leroy BP, Michaelides M, Boon CJF. Hahn LC, et al. Among authors: al khuzaei s. Ophthalmol Retina. 2022 Aug;6(8):711-722. doi: 10.1016/j.oret.2022.03.008. Epub 2022 Mar 18. Ophthalmol Retina. 2022. PMID: 35314386 Free 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: al khuzaei s. 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 3000 Inherited Retinal Disease Patients from the United Kingdom.
Woof W, de Guimarães TAC, Al-Khuzaei S, Varela MD, 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, Kabiri N, Sumodhee D, Patel P, Furman J, Moghul I, Sallum J, De Silva SR, Lorenz B, Holz F, Fujinami K, Webster AR, Mahroo O, Downes SM, Madhusuhan S, Balaskas K, Michaelides M, Pontikos N. Woof W, et al. Among authors: al khuzaei s. medRxiv [Preprint]. 2024 Mar 28:2024.03.24.24304809. doi: 10.1101/2024.03.24.24304809. medRxiv. 2024. PMID: 38585957 Free PMC article. Preprint.
11 results