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Page 1
Genetic Variants Associated With Corneal Biomechanical Properties and Potentially Conferring Susceptibility to Keratoconus in a Genome-Wide Association Study.
Khawaja AP, Rojas Lopez KE, Hardcastle AJ, Hammond CJ, Liskova P, Davidson AE, Gore DM, Hafford Tear NJ, Pontikos N, Hayat S, Wareham N, Khaw KT, Tuft SJ, Foster PJ, Hysi PG. Khawaja AP, et al. Among authors: davidson ae. JAMA Ophthalmol. 2019 Sep 1;137(9):1005-1012. doi: 10.1001/jamaophthalmol.2019.2058. JAMA Ophthalmol. 2019. PMID: 31246245 Free PMC article.
Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).
Webb TR, Parfitt DA, Gardner JC, Martinez A, Bevilacqua D, Davidson AE, Zito I, Thiselton DL, Ressa JH, Apergi M, Schwarz N, Kanuga N, Michaelides M, Cheetham ME, Gorin MB, Hardcastle AJ. Webb TR, et al. Among authors: davidson ae. Hum Mol Genet. 2012 Aug 15;21(16):3647-54. doi: 10.1093/hmg/dds194. Epub 2012 May 22. Hum Mol Genet. 2012. PMID: 22619378 Free PMC article.
The clinical effect of homozygous ABCA4 alleles in 18 patients.
Fujinami K, Sergouniotis PI, Davidson AE, Mackay DS, Tsunoda K, Tsubota K, Robson AG, Holder GE, Moore AT, Michaelides M, Webster AR. Fujinami K, et al. Among authors: davidson ae. Ophthalmology. 2013 Nov;120(11):2324-31. doi: 10.1016/j.ophtha.2013.04.016. Epub 2013 Jun 12. Ophthalmology. 2013. PMID: 23769331
Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa.
Davidson AE, Schwarz N, Zelinger L, Stern-Schneider G, Shoemark A, Spitzbarth B, Gross M, Laxer U, Sosna J, Sergouniotis PI, Waseem NH, Wilson R, Kahn RA, Plagnol V, Wolfrum U, Banin E, Hardcastle AJ, Cheetham ME, Sharon D, Webster AR. Davidson AE, et al. Am J Hum Genet. 2013 Aug 8;93(2):321-9. doi: 10.1016/j.ajhg.2013.06.003. Epub 2013 Jul 11. Am J Hum Genet. 2013. PMID: 23849777 Free PMC article.
The pathogenesis of keratoconus.
Davidson AE, Hayes S, Hardcastle AJ, Tuft SJ. Davidson AE, et al. Eye (Lond). 2014 Feb;28(2):189-95. doi: 10.1038/eye.2013.278. Epub 2013 Dec 20. Eye (Lond). 2014. PMID: 24357835 Free PMC article. Review.
Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness.
Davidson AE, Cheong SS, Hysi PG, Venturini C, Plagnol V, Ruddle JB, Ali H, Carnt N, Gardner JC, Hassan H, Gade E, Kearns L, Jelsig AM, Restori M, Webb TR, Laws D, Cosgrove M, Hertz JM, Russell-Eggitt I, Pilz DT, Hammond CJ, Tuft SJ, Hardcastle AJ. Davidson AE, et al. PLoS One. 2014 Aug 5;9(8):e104163. doi: 10.1371/journal.pone.0104163. eCollection 2014. PLoS One. 2014. PMID: 25093588 Free PMC article.
Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variants.
Gardner JC, Liew G, Quan YH, Ermetal B, Ueyama H, Davidson AE, Schwarz N, Kanuga N, Chana R, Maher ER, Webster AR, Holder GE, Robson AG, Cheetham ME, Liebelt J, Ruddle JB, Moore AT, Michaelides M, Hardcastle AJ. Gardner JC, et al. Among authors: davidson ae. Hum Mutat. 2014 Nov;35(11):1354-62. doi: 10.1002/humu.22679. Hum Mutat. 2014. PMID: 25168334 Free PMC article.
98 results