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Catastrophic visual loss in a patient with Friedreich ataxia.
Porter N, Downes SM, Fratter C, Anslow P, Németh AH. Porter N, et al. Among authors: downes sm. Arch Ophthalmol. 2007 Feb;125(2):273-4. doi: 10.1001/archopht.125.2.273. Arch Ophthalmol. 2007. PMID: 17296906 No abstract available.
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.
Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.
Shanks ME, Downes SM, Copley RR, Lise S, Broxholme J, Hudspith KA, Kwasniewska A, Davies WI, Hankins MW, Packham ER, Clouston P, Seller A, Wilkie AO, Taylor JC, Ragoussis J, Németh AH. Shanks ME, et al. Among authors: downes sm. Eur J Hum Genet. 2013 Mar;21(3):274-80. doi: 10.1038/ejhg.2012.172. Epub 2012 Sep 12. Eur J Hum Genet. 2013. PMID: 22968130 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.
Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial.
MacLaren RE, Groppe M, Barnard AR, Cottriall CL, Tolmachova T, Seymour L, Clark KR, During MJ, Cremers FP, Black GC, Lotery AJ, Downes SM, Webster AR, Seabra MC. MacLaren RE, et al. Among authors: downes sm. Lancet. 2014 Mar 29;383(9923):1129-37. doi: 10.1016/S0140-6736(13)62117-0. Epub 2014 Jan 16. Lancet. 2014. PMID: 24439297 Free PMC article. Clinical Trial.
167 results