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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: almushattat h. 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.
CRB1 is required for recycling by RAB11A+ vesicles in human retinal organoids.
Buck TM, Quinn PMJ, Pellissier LP, Mulder AA, Jongejan A, Lu X, Boon N, Koot D, Almushattat H, Arendzen CH, Vos RM, Bradley EJ, Freund C, Mikkers HMM, Boon CJF, Moerland PD, Baas F, Koster AJ, Neefjes J, Berlin I, Jost CR, Wijnholds J. Buck TM, et al. Among authors: almushattat h. Stem Cell Reports. 2023 Sep 12;18(9):1793-1810. doi: 10.1016/j.stemcr.2023.07.001. Epub 2023 Aug 3. Stem Cell Reports. 2023. PMID: 37541258 Free PMC article.