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Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen.
Taylor RL, Poulter JA, Downes SM, McKibbin M, Khan KN, Inglehearn CF, Webster AR, Hardcastle AJ, Michaelides M, Bishop PN, Clark SJ, Black GC; United Kingdom Inherited Retinal Dystrophy Consortium. Taylor RL, et al. Among authors: downes sm. Ophthalmology. 2019 Oct;126(10):1410-1421. doi: 10.1016/j.ophtha.2019.03.013. Epub 2019 Mar 21. Ophthalmology. 2019. PMID: 30905644 Free PMC article.
Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa.
Davidson AE, Millar ID, Urquhart JE, Burgess-Mullan R, Shweikh Y, Parry N, O'Sullivan J, Maher GJ, McKibbin M, Downes SM, Lotery AJ, Jacobson SG, Brown PD, Black GC, Manson FD. Davidson AE, et al. Among authors: downes sm. Am J Hum Genet. 2009 Nov;85(5):581-92. doi: 10.1016/j.ajhg.2009.09.015. Epub 2009 Oct 22. Am J Hum Genet. 2009. PMID: 19853238 Free PMC article.
Understanding the impact of genetic testing for inherited retinal dystrophy.
Combs R, McAllister M, Payne K, Lowndes J, Devery S, Webster AR, Downes SM, Moore AT, Ramsden S, Black G, Hall G. Combs R, et al. Among authors: downes sm. Eur J Hum Genet. 2013 Nov;21(11):1209-13. doi: 10.1038/ejhg.2013.19. Epub 2013 Feb 13. Eur J Hum Genet. 2013. PMID: 23403902 Free PMC article.
Understanding the expectations of patients with inherited retinal dystrophies.
Combs R, Hall G, Payne K, Lowndes J, Devery S, Downes SM, Moore AT, Ramsden S, Black GC, McAllister M. Combs R, et al. Among authors: downes sm. Br J Ophthalmol. 2013 Aug;97(8):1057-61. doi: 10.1136/bjophthalmol-2012-302911. Epub 2013 Jun 5. Br J Ophthalmol. 2013. PMID: 23740962
Pharmacogenetic associations with vascular endothelial growth factor inhibition in participants with neovascular age-related macular degeneration in the IVAN Study.
Lotery AJ, Gibson J, Cree AJ, Downes SM, Harding SP, Rogers CA, Reeves BC, Ennis S, Chakravarthy U; Alternative Treatments to Inhibit VEGF in Patients with Age-Related Choroidal Neovascularisation (IVAN) Study Group. Lotery AJ, et al. Among authors: downes sm. Ophthalmology. 2013 Dec;120(12):2637-2643. doi: 10.1016/j.ophtha.2013.07.046. Epub 2013 Sep 23. Ophthalmology. 2013. PMID: 24070809 Clinical Trial.
167 results