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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: macdonald im. Nat Commun. 2022 Nov 3;13(1):6595. doi: 10.1038/s41467-022-33820-w. Nat Commun. 2022. PMID: 36329026 Free PMC article.
Single-base substitutions in the CHM promoter as a cause of choroideremia.
Radziwon A, Arno G, K Wheaton D, McDonagh EM, Baple EL, Webb-Jones K, G Birch D, Webster AR, MacDonald IM. Radziwon A, et al. Among authors: macdonald im. Hum Mutat. 2017 Jun;38(6):704-715. doi: 10.1002/humu.23212. Epub 2017 Mar 24. Hum Mutat. 2017. PMID: 28271586
OCT Changes in 4-Year-Old Choroideremia Patient.
Zhai Y, MacDonald IM. Zhai Y, et al. Among authors: macdonald im. Ophthalmology. 2019 Oct;126(10):1357. doi: 10.1016/j.ophtha.2019.05.026. Ophthalmology. 2019. PMID: 31543107 No abstract available.
RP1L1 and inherited photoreceptor disease: A review.
Noel NCL, MacDonald IM. Noel NCL, et al. Among authors: macdonald im. Surv Ophthalmol. 2020 Nov-Dec;65(6):725-739. doi: 10.1016/j.survophthal.2020.04.005. Epub 2020 Apr 30. Surv Ophthalmol. 2020. PMID: 32360662 Free article. Review.
Visual Field Progression in Retinitis Pigmentosa.
Xu M, Zhai Y, MacDonald IM. Xu M, et al. Among authors: macdonald im. Invest Ophthalmol Vis Sci. 2020 Jun 3;61(6):56. doi: 10.1167/iovs.61.6.56. Invest Ophthalmol Vis Sci. 2020. PMID: 32589198 Free PMC article.
A homozygous POC1B variant causes recessive cone-rod dystrophy.
Peturson AC, Noel NCL, MacDonald IM. Peturson AC, et al. Among authors: macdonald im. Ophthalmic Genet. 2021 Jun;42(3):349-353. doi: 10.1080/13816810.2021.1894460. Epub 2021 Mar 4. Ophthalmic Genet. 2021. PMID: 33657974
194 results