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Biallelic mutation of BEST1 causes a distinct retinopathy in humans.
Burgess R, Millar ID, Leroy BP, Urquhart JE, Fearon IM, De Baere E, Brown PD, Robson AG, Wright GA, Kestelyn P, Holder GE, Webster AR, Manson FD, Black GC. Burgess R, et al. Among authors: wright ga. Am J Hum Genet. 2008 Jan;82(1):19-31. doi: 10.1016/j.ajhg.2007.08.004. Am J Hum Genet. 2008. PMID: 18179881 Free PMC article.
Clinicopathological case series of four patients with inherited macular disease.
Wickham L, Chen FK, Lewis GP, Uppal GS, Neveu MM, Wright GA, Robson AG, Webster AR, Grierson I, Hiscott P, Coffey PJ, Holder GE, Fisher SK, Da Cruz L. Wickham L, et al. Among authors: wright ga. Invest Ophthalmol Vis Sci. 2009 Aug;50(8):3553-61. doi: 10.1167/iovs.08-2715. Epub 2009 Mar 11. Invest Ophthalmol Vis Sci. 2009. PMID: 19279306
X-linked cone dystrophy caused by mutation of the red and green cone opsins.
Gardner JC, Webb TR, Kanuga N, Robson AG, Holder GE, Stockman A, Ripamonti C, Ebenezer ND, Ogun O, Devery S, Wright GA, Maher ER, Cheetham ME, Moore AT, Michaelides M, Hardcastle AJ. Gardner JC, et al. Among authors: wright ga. Am J Hum Genet. 2010 Jul 9;87(1):26-39. doi: 10.1016/j.ajhg.2010.05.019. Epub 2010 Jun 24. Am J Hum Genet. 2010. PMID: 20579627 Free PMC article.
Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus).
Sergouniotis PI, Sohn EH, Li Z, McBain VA, Wright GA, Moore AT, Robson AG, Holder GE, Webster AR. Sergouniotis PI, et al. Among authors: wright ga. Ophthalmology. 2011 Aug;118(8):1661-70. doi: 10.1016/j.ophtha.2010.12.031. Epub 2011 Apr 29. Ophthalmology. 2011. PMID: 21529959
RDH12 retinopathy: novel mutations and phenotypic description.
Mackay DS, Dev Borman A, Moradi P, Henderson RH, Li Z, Wright GA, Waseem N, Gandra M, Thompson DA, Bhattacharya SS, Holder GE, Webster AR, Moore AT. Mackay DS, et al. Mol Vis. 2011;17:2706-16. Epub 2011 Oct 19. Mol Vis. 2011. PMID: 22065924 Free PMC article.
3,105 results