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The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision.
Chrystal PW, Lambacher NJ, Doucette LP, Bellingham J, Schiff ER, Noel NCL, Li C, Tsiropoulou S, Casey GA, Zhai Y, Nadolski NJ, Majumder MH, Tagoe J, D'Esposito F, Cordeiro MF, Downes S, Clayton-Smith J, Ellingford J; Genomics England Research Consortium; Mahroo OA, Hocking JC, Cheetham ME, Webster AR, Jansen G, Blacque OE, Allison WT, Au PYB, MacDonald IM, Arno G, Leroux MR. Chrystal PW, et al. Among authors: mahroo oa. Nat Commun. 2022 Nov 3;13(1):6595. doi: 10.1038/s41467-022-33820-w. Nat Commun. 2022. PMID: 36329026 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. medRxiv [Preprint]. 2024 Aug 14:2024.03.24.24304809. doi: 10.1101/2024.03.24.24304809. medRxiv. 2024. PMID: 38585957 Free PMC article. Preprint.
Clinical, Genetic, and Histopathological Characteristics of CRX-associated Retinal Dystrophies.
Hahn LC, van der Veen I, Georgiou M, van Schooneveld MJ, Ten Brink JB, Florijn RJ, Mahroo OA, de Carvalho ER, Webster AR, Bergen AA, Michaelides M, Boon CJF. Hahn LC, et al. Among authors: mahroo oa. Ophthalmol Retina. 2024 Aug 14:S2468-6530(24)00365-8. doi: 10.1016/j.oret.2024.08.003. Online ahead of print. Ophthalmol Retina. 2024. PMID: 39128788 Free article.
Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-Analysis.
Cornelis SS, IntHout J, Runhart EH, Grunewald O, Lin S, Corradi Z, Khan M, Hitti-Malin RJ, Whelan L, Farrar GJ, Sharon D, van den Born LI, Arno G, Simcoe M, Michaelides M, Webster AR, Roosing S, Mahroo OA, Dhaenens CM, Cremers FPM; Study Group. Cornelis SS, et al. Among authors: mahroo oa. JAMA Ophthalmol. 2024 May 1;142(5):463-471. doi: 10.1001/jamaophthalmol.2024.0660. JAMA Ophthalmol. 2024. PMID: 38602673
166 results