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NMNAT1 mutations cause Leber congenital amaurosis.
Falk MJ, Zhang Q, Nakamaru-Ogiso E, Kannabiran C, Fonseca-Kelly Z, Chakarova C, Audo I, Mackay DS, Zeitz C, Borman AD, Staniszewska M, Shukla R, Palavalli L, Mohand-Said S, Waseem NH, Jalali S, Perin JC, Place E, Ostrovsky J, Xiao R, Bhattacharya SS, Consugar M, Webster AR, Sahel JA, Moore AT, Berson EL, Liu Q, Gai X, Pierce EA. Falk MJ, et al. Among authors: mackay ds. Nat Genet. 2012 Sep;44(9):1040-5. doi: 10.1038/ng.2361. Epub 2012 Jul 29. Nat Genet. 2012. PMID: 22842227 Free PMC article.
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.
Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy.
Tan MH, Mackay DS, Cowing J, Tran HV, Smith AJ, Wright GA, Dev-Borman A, Henderson RH, Moradi P, Russell-Eggitt I, MacLaren RE, Robson AG, Cheetham ME, Thompson DA, Webster AR, Michaelides M, Ali RR, Moore AT. Tan MH, et al. Among authors: mackay ds. PLoS One. 2012;7(3):e32330. doi: 10.1371/journal.pone.0032330. Epub 2012 Mar 6. PLoS One. 2012. PMID: 22412862 Free PMC article.
Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.
Mackay DS, Borman AD, Sui R, van den Born LI, Berson EL, Ocaka LA, Davidson AE, Heckenlively JR, Branham K, Ren H, Lopez I, Maria M, Azam M, Henkes A, Blokland E, Qamar R, Webster AR, Cremers FPM, Moore AT, Koenekoop RK; [LCA5 Study Group (see acknowledgements for Universities); Andreasson S, de Baere E, Bennett J, Chader GJ, Berger W, Golovleva I, Greenberg J, den Hollander AI, Klaver CCW, Klevering BJ, Lorenz B, Preising MN, Ramsear R, Roberts L, Roepman R, Rohrschneider K, Wissinger B. Mackay DS, et al. Hum Mutat. 2013 Nov;34(11):1537-1546. doi: 10.1002/humu.22398. Epub 2013 Sep 17. Hum Mutat. 2013. PMID: 23946133 Free PMC article.
Connexin46 mutations in autosomal dominant congenital cataract.
Mackay D, Ionides A, Kibar Z, Rouleau G, Berry V, Moore A, Shiels A, Bhattacharya S. Mackay D, et al. Am J Hum Genet. 1999 May;64(5):1357-64. doi: 10.1086/302383. Am J Hum Genet. 1999. PMID: 10205266 Free PMC article.
88 results