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Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility.
Parkes M, Barrett JC, Prescott NJ, Tremelling M, Anderson CA, Fisher SA, Roberts RG, Nimmo ER, Cummings FR, Soars D, Drummond H, Lees CW, Khawaja SA, Bagnall R, Burke DA, Todhunter CE, Ahmad T, Onnie CM, McArdle W, Strachan D, Bethel G, Bryan C, Lewis CM, Deloukas P, Forbes A, Sanderson J, Jewell DP, Satsangi J, Mansfield JC; Wellcome Trust Case Control Consortium; Cardon L, Mathew CG. Parkes M, et al. Among authors: roberts rg. Nat Genet. 2007 Jul;39(7):830-2. doi: 10.1038/ng2061. Epub 2007 Jun 6. Nat Genet. 2007. PMID: 17554261 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: roberts rg. 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.
Novel isoforms of the CARD8 (TUCAN) gene evade a nonsense mutation.
Bagnall RD, Roberts RG, Mirza MM, Torigoe T, Prescott NJ, Mathew CG. Bagnall RD, et al. Among authors: roberts rg. Eur J Hum Genet. 2008 May;16(5):619-25. doi: 10.1038/sj.ejhg.5201996. Epub 2008 Jan 23. Eur J Hum Genet. 2008. PMID: 18212821 Free article.
Mutation of the RAD51C gene in a Fanconi anemia-like disorder.
Vaz F, Hanenberg H, Schuster B, Barker K, Wiek C, Erven V, Neveling K, Endt D, Kesterton I, Autore F, Fraternali F, Freund M, Hartmann L, Grimwade D, Roberts RG, Schaal H, Mohammed S, Rahman N, Schindler D, Mathew CG. Vaz F, et al. Among authors: roberts rg. Nat Genet. 2010 May;42(5):406-9. doi: 10.1038/ng.570. Epub 2010 Apr 18. Nat Genet. 2010. PMID: 20400963
293 results