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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. Among authors: maher gj. 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.
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: maher gj. 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.
Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline.
Giannoulatou E, McVean G, Taylor IB, McGowan SJ, Maher GJ, Iqbal Z, Pfeifer SP, Turner I, Burkitt Wright EM, Shorto J, Itani A, Turner K, Gregory L, Buck D, Rajpert-De Meyts E, Looijenga LH, Kerr B, Wilkie AO, Goriely A. Giannoulatou E, et al. Among authors: maher gj. Proc Natl Acad Sci U S A. 2013 Dec 10;110(50):20152-7. doi: 10.1073/pnas.1311381110. Epub 2013 Nov 20. Proc Natl Acad Sci U S A. 2013. PMID: 24259709 Free PMC article.
29 results