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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.
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
Zebrafish and inherited photoreceptor disease: Models and insights.
Noel NCL, Allison WT, MacDonald IM, Hocking JC. Noel NCL, et al. Among authors: macdonald im. Prog Retin Eye Res. 2022 Nov;91:101096. doi: 10.1016/j.preteyeres.2022.101096. Epub 2022 Jul 8. Prog Retin Eye Res. 2022. PMID: 35811244 Free article. Review.
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.
Genetics of age-related macular degeneration.
Ting AY, Lee TK, MacDonald IM. Ting AY, et al. Among authors: macdonald im. Curr Opin Ophthalmol. 2009 Sep;20(5):369-76. doi: 10.1097/ICU.0b013e32832f8016. Curr Opin Ophthalmol. 2009. PMID: 19587596 Review.
195 results