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Page 1
Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls.
Soemedi R, Topf A, Wilson IJ, Darlay R, Rahman T, Glen E, Hall D, Huang N, Bentham J, Bhattacharya S, Cosgrove C, Brook JD, Granados-Riveron J, Setchfield K, Bu'lock F, Thornborough C, Devriendt K, Breckpot J, Hofbeck M, Lathrop M, Rauch A, Blue GM, Winlaw DS, Hurles M, Santibanez-Koref M, Cordell HJ, Goodship JA, Keavney BD. Soemedi R, et al. Among authors: hurles m. Hum Mol Genet. 2012 Apr 1;21(7):1513-20. doi: 10.1093/hmg/ddr589. Epub 2011 Dec 22. Hum Mol Genet. 2012. PMID: 22199024 Free PMC article.
Evidence for widespread reticulate evolution within human duplicons.
Jackson MS, Oliver K, Loveland J, Humphray S, Dunham I, Rocchi M, Viggiano L, Park JP, Hurles ME, Santibanez-Koref M. Jackson MS, et al. Among authors: hurles me. Am J Hum Genet. 2005 Nov;77(5):824-40. doi: 10.1086/497704. Epub 2005 Sep 30. Am J Hum Genet. 2005. PMID: 16252241 Free PMC article.
Structural variation on the short arm of the human Y chromosome: recurrent multigene deletions encompassing Amelogenin Y.
Jobling MA, Lo IC, Turner DJ, Bowden GR, Lee AC, Xue Y, Carvalho-Silva D, Hurles ME, Adams SM, Chang YM, Kraaijenbrink T, Henke J, Guanti G, McKeown B, van Oorschot RA, Mitchell RJ, de Knijff P, Tyler-Smith C, Parkin EJ. Jobling MA, et al. Among authors: hurles me. Hum Mol Genet. 2007 Feb 1;16(3):307-16. doi: 10.1093/hmg/ddl465. Epub 2006 Dec 22. Hum Mol Genet. 2007. PMID: 17189292 Free PMC article.
Adaptive evolution of UGT2B17 copy-number variation.
Xue Y, Sun D, Daly A, Yang F, Zhou X, Zhao M, Huang N, Zerjal T, Lee C, Carter NP, Hurles ME, Tyler-Smith C. Xue Y, et al. Among authors: hurles me. Am J Hum Genet. 2008 Sep;83(3):337-46. doi: 10.1016/j.ajhg.2008.08.004. Epub 2008 Aug 28. Am J Hum Genet. 2008. PMID: 18760392 Free PMC article.
Large, rare chromosomal deletions associated with severe early-onset obesity.
Bochukova EG, Huang N, Keogh J, Henning E, Purmann C, Blaszczyk K, Saeed S, Hamilton-Shield J, Clayton-Smith J, O'Rahilly S, Hurles ME, Farooqi IS. Bochukova EG, et al. Nature. 2010 Feb 4;463(7281):666-70. doi: 10.1038/nature08689. Epub 2009 Dec 6. Nature. 2010. PMID: 19966786 Free PMC article.
Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease.
Prescott NJ, Dominy KM, Kubo M, Lewis CM, Fisher SA, Redon R, Huang N, Stranger BE, Blaszczyk K, Hudspith B, Parkes G, Hosono N, Yamazaki K, Onnie CM, Forbes A, Dermitzakis ET, Nakamura Y, Mansfield JC, Sanderson J, Hurles ME, Roberts RG, Mathew CG. Prescott NJ, et al. Among authors: hurles me. Hum Mol Genet. 2010 May 1;19(9):1828-39. doi: 10.1093/hmg/ddq041. Epub 2010 Jan 27. Hum Mol Genet. 2010. PMID: 20106866 Free PMC article.
Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry.
Olbrich H, Schmidts M, Werner C, Onoufriadis A, Loges NT, Raidt J, Banki NF, Shoemark A, Burgoyne T, Al Turki S, Hurles ME; UK10K Consortium; Köhler G, Schroeder J, Nürnberg G, Nürnberg P, Chung EM, Reinhardt R, Marthin JK, Nielsen KG, Mitchison HM, Omran H. Olbrich H, et al. Among authors: hurles me. Am J Hum Genet. 2012 Oct 5;91(4):672-84. doi: 10.1016/j.ajhg.2012.08.016. Epub 2012 Sep 27. Am J Hum Genet. 2012. PMID: 23022101 Free PMC article.
283 results