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Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2.
Davidson AE, Liskova P, Evans CJ, Dudakova L, Nosková L, Pontikos N, Hartmannová H, Hodaňová K, Stránecký V, Kozmík Z, Levis HJ, Idigo N, Sasai N, Maher GJ, Bellingham J, Veli N, Ebenezer ND, Cheetham ME, Daniels JT, Thaung CM, Jirsova K, Plagnol V, Filipec M, Kmoch S, Tuft SJ, Hardcastle AJ. Davidson AE, et al. Am J Hum Genet. 2016 Jan 7;98(1):75-89. doi: 10.1016/j.ajhg.2015.11.018. Epub 2015 Dec 31. Am J Hum Genet. 2016. PMID: 26749309 Free PMC article.
Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina.
Sergouniotis PI, Davidson AE, Mackay DS, Lenassi E, Li Z, Robson AG, Yang X, Kam JH, Isaacs TW, Holder GE, Jeffery G, Beck JA, Moore AT, Plagnol V, Webster AR. Sergouniotis PI, et al. Among authors: davidson ae. Am J Hum Genet. 2011 Dec 9;89(6):782-91. doi: 10.1016/j.ajhg.2011.11.004. Epub 2011 Dec 1. Am J Hum Genet. 2011. PMID: 22137173 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.
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.
A homozygous mutation in the TUB gene associated with retinal dystrophy and obesity.
Borman AD, Pearce LR, Mackay DS, Nagel-Wolfrum K, Davidson AE, Henderson R, Garg S, Waseem NH, Webster AR, Plagnol V, Wolfrum U, Farooqi IS, Moore AT. Borman AD, et al. Among authors: davidson ae. Hum Mutat. 2014 Mar;35(3):289-93. doi: 10.1002/humu.22482. Epub 2013 Dec 20. Hum Mutat. 2014. PMID: 24375934 Free PMC article.
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