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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.
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.
Exome Sequencing and Rare Variant Analysis Reveals Multiple Filaggrin Mutations in Bangladeshi Families with Atopic Eczema and Additional Risk Genes.
Pigors M, Common JEA, Wong XFCC, Malik S, Scott CA, Tabarra N, Liany H, Liu J, Limviphuvadh V, Maurer-Stroh S, Tang MBY, Lench N, Margolis DJ, van Heel DA, Mein CA, Novak N, Baurecht H, Weidinger S, McLean WHI, Irvine AD, O'Toole EA, Simpson MA, Kelsell DP. Pigors M, et al. Among authors: simpson ma. J Invest Dermatol. 2018 Dec;138(12):2674-2677. doi: 10.1016/j.jid.2018.05.013. Epub 2018 May 30. J Invest Dermatol. 2018. PMID: 29857066 Free article. No abstract available.
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.
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Rayner-Matthews PJ, Gilmour KC, Samarghitean C, Seneviratne SL, Sansom DM, Lynch AG, Megy K, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Herwadkar A, Cooper N, Grigoriadou S, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F; Primary Immunodeficiency Consortium for the NIHR Bioresource; Lyons PA, Hurles ME, Savic S, Burns SO, Kuijpers TW, Turro E, Ouwehand WH, Thrasher AJ, Smith KGC. Thaventhiran JED, et al. Nature. 2020 Jul;583(7814):90-95. doi: 10.1038/s41586-020-2265-1. Epub 2020 May 6. Nature. 2020. PMID: 32499645 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.
Exome Sequencing and Genotyping Identify a Rare Variant in NLRP7 Gene Associated With Ulcerative Colitis.
Onoufriadis A, Stone K, Katsiamides A, Amar A, Omar Y, de Lange KM, Taylor K, Barrett JC, Pollok R, Hayee B, Mansfield JC, Sanderson JD, Simpson MA, Mathew CG, Prescott NJ. Onoufriadis A, et al. Among authors: simpson ma. J Crohns Colitis. 2018 Feb 28;12(3):321-326. doi: 10.1093/ecco-jcc/jjx157. J Crohns Colitis. 2018. PMID: 29211899 Free PMC article.
Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype.
Ostergaard P, Simpson MA, Brice G, Mansour S, Connell FC, Onoufriadis A, Child AH, Hwang J, Kalidas K, Mortimer PS, Trembath R, Jeffery S. Ostergaard P, et al. Among authors: simpson ma. J Med Genet. 2011 Apr;48(4):251-5. doi: 10.1136/jmg.2010.085563. Epub 2011 Jan 25. J Med Genet. 2011. PMID: 21266381
396 results