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Page 1
Pooled sequencing of 531 genes in inflammatory bowel disease identifies an associated rare variant in BTNL2 and implicates other immune related genes.
Prescott NJ, Lehne B, Stone K, Lee JC, Taylor K, Knight J, Papouli E, Mirza MM, Simpson MA, Spain SL, Lu G, Fraternali F, Bumpstead SJ, Gray E, Amar A, Bye H, Green P, Chung-Faye G, Hayee B, Pollok R, Satsangi J, Parkes M, Barrett JC, Mansfield JC, Sanderson J, Lewis CM, Weale ME, Schlitt T, Mathew CG; UK IBD Genetics Consortium. Prescott NJ, et al. Among authors: simpson ma. PLoS Genet. 2015 Feb 11;11(2):e1004955. doi: 10.1371/journal.pgen.1004955. eCollection 2015 Feb. PLoS Genet. 2015. PMID: 25671699 Free PMC article.
Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis.
Onoufriadis A, Simpson MA, Pink AE, Di Meglio P, Smith CH, Pullabhatla V, Knight J, Spain SL, Nestle FO, Burden AD, Capon F, Trembath RC, Barker JN. Onoufriadis A, et al. Among authors: simpson ma. Am J Hum Genet. 2011 Sep 9;89(3):432-7. doi: 10.1016/j.ajhg.2011.07.022. Epub 2011 Aug 11. Am J Hum Genet. 2011. PMID: 21839423 Free PMC article.
Negligible impact of rare autoimmune-locus coding-region variants on missing heritability.
Hunt KA, Mistry V, Bockett NA, Ahmad T, Ban M, Barker JN, Barrett JC, Blackburn H, Brand O, Burren O, Capon F, Compston A, Gough SC, Jostins L, Kong Y, Lee JC, Lek M, MacArthur DG, Mansfield JC, Mathew CG, Mein CA, Mirza M, Nutland S, Onengut-Gumuscu S, Papouli E, Parkes M, Rich SS, Sawcer S, Satsangi J, Simmonds MJ, Trembath RC, Walker NM, Wozniak E, Todd JA, Simpson MA, Plagnol V, van Heel DA. Hunt KA, et al. Among authors: simpson ma. Nature. 2013 Jun 13;498(7453):232-5. doi: 10.1038/nature12170. Epub 2013 May 22. Nature. 2013. PMID: 23698362 Free PMC article.
Next generation diagnostics of heritable connective tissue disorders.
Salam A, Simpson MA, Stone KL, Takeichi T, Nanda A, Akiyama M, McGrath JA. Salam A, et al. Among authors: simpson ma. Matrix Biol. 2014 Jan;33:35-40. doi: 10.1016/j.matbio.2013.06.004. Epub 2013 Jul 26. Matrix Biol. 2014. PMID: 23896220 Free article. Review.
An in-depth characterization of the major psoriasis susceptibility locus identifies candidate susceptibility alleles within an HLA-C enhancer element.
Clop A, Bertoni A, Spain SL, Simpson MA, Pullabhatla V, Tonda R, Hundhausen C, Di Meglio P, De Jong P, Hayday AC, Nestle FO, Barker JN, Bell RJ, Capon F, Trembath RC. Clop A, et al. Among authors: simpson ma. PLoS One. 2013 Aug 19;8(8):e71690. doi: 10.1371/journal.pone.0071690. eCollection 2013. PLoS One. 2013. PMID: 23990973 Free PMC article.
408 results