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PRF1 mutation alters immune system activation, inflammation, and risk of autoimmunity.
Sidore C, Orrù V, Cocco E, Steri M, Inshaw JR, Pitzalis M, Mulas A, McGurnaghan S, Frau J, Porcu E, Busonero F, Dei M, Lai S, Sole G, Virdis F, Serra V, Poddie F, Delitala A, Marongiu M, Deidda F, Pala M, Floris M, Masala M, Onengut-Gumuscu S, Robertson CC, Leoni L, Frongia A, Ricciardi MR, Chessa M, Olla N, Lovicu M, Loizedda A, Maschio A, Mereu L, Ferrigno P, Curreli N, Balaci L, Loi F, Ferreli LA, Pilia MG, Pani A, Marrosu MG, Abecasis GR, Rich SS, Colhoun H, Todd JA, Schlessinger D, Fiorillo E, Cucca F, Zoledziewska M. Sidore C, et al. Among authors: todd ja. Mult Scler. 2021 Aug;27(9):1332-1340. doi: 10.1177/1352458520963937. Epub 2020 Oct 14. Mult Scler. 2021. PMID: 33566725 Free PMC article.
Functional IL6R 358Ala allele impairs classical IL-6 receptor signaling and influences risk of diverse inflammatory diseases.
Ferreira RC, Freitag DF, Cutler AJ, Howson JM, Rainbow DB, Smyth DJ, Kaptoge S, Clarke P, Boreham C, Coulson RM, Pekalski ML, Chen WM, Onengut-Gumuscu S, Rich SS, Butterworth AS, Malarstig A, Danesh J, Todd JA. Ferreira RC, et al. Among authors: todd ja. PLoS Genet. 2013 Apr;9(4):e1003444. doi: 10.1371/journal.pgen.1003444. Epub 2013 Apr 4. PLoS Genet. 2013. PMID: 23593036 Free PMC article.
A hybrid qPCR/SNP array approach allows cost efficient assessment of KIR gene copy numbers in large samples.
Pontikos N, Smyth DJ, Schuilenburg H, Howson JM, Walker NM, Burren OS, Guo H, Onengut-Gumuscu S, Chen WM, Concannon P, Rich SS, Jayaraman J, Jiang W, Traherne JA, Trowsdale J, Todd JA, Wallace C. Pontikos N, et al. Among authors: todd ja. BMC Genomics. 2014 Apr 11;15:274. doi: 10.1186/1471-2164-15-274. BMC Genomics. 2014. PMID: 24720548 Free PMC article.
A method for gene-based pathway analysis using genomewide association study summary statistics reveals nine new type 1 diabetes associations.
Evangelou M, Smyth DJ, Fortune MD, Burren OS, Walker NM, Guo H, Onengut-Gumuscu S, Chen WM, Concannon P, Rich SS, Todd JA, Wallace C. Evangelou M, et al. Among authors: todd ja. Genet Epidemiol. 2014 Dec;38(8):661-70. doi: 10.1002/gepi.21853. Epub 2014 Nov 4. Genet Epidemiol. 2014. PMID: 25371288 Free PMC article.
Dissection of a Complex Disease Susceptibility Region Using a Bayesian Stochastic Search Approach to Fine Mapping.
Wallace C, Cutler AJ, Pontikos N, Pekalski ML, Burren OS, Cooper JD, García AR, Ferreira RC, Guo H, Walker NM, Smyth DJ, Rich SS, Onengut-Gumuscu S, Sawcer SJ, Ban M, Richardson S, Todd JA, Wicker LS. Wallace C, et al. Among authors: todd ja. PLoS Genet. 2015 Jun 24;11(6):e1005272. doi: 10.1371/journal.pgen.1005272. eCollection 2015 Jun. PLoS Genet. 2015. PMID: 26106896 Free PMC article.
536 results