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Adventitious changes in long-range gene expression caused by polymorphic structural variation and promoter competition.
Lower KM, Hughes JR, De Gobbi M, Henderson S, Viprakasit V, Fisher C, Goriely A, Ayyub H, Sloane-Stanley J, Vernimmen D, Langford C, Garrick D, Gibbons RJ, Higgs DR. Lower KM, et al. Among authors: goriely a. Proc Natl Acad Sci U S A. 2009 Dec 22;106(51):21771-6. doi: 10.1073/pnas.0909331106. Epub 2009 Dec 3. Proc Natl Acad Sci U S A. 2009. PMID: 19959666 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: goriely a. 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.
The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males.
Twigg SR, Matsumoto K, Kidd AM, Goriely A, Taylor IB, Fisher RB, Hoogeboom AJ, Mathijssen IM, Lourenco MT, Morton JE, Sweeney E, Wilson LC, Brunner HG, Mulliken JB, Wall SA, Wilkie AO. Twigg SR, et al. Among authors: goriely a. Am J Hum Genet. 2006 Jun;78(6):999-1010. doi: 10.1086/504440. Epub 2006 Apr 28. Am J Hum Genet. 2006. PMID: 16685650 Free PMC article.
190 results