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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.
Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia.
Harlalka GV, McEntagart ME, Gupta N, Skrzypiec AE, Mucha MW, Chioza BA, Simpson MA, Sreekantan-Nair A, Pereira A, Günther S, Jahic A, Modarres H, Moore-Barton H, Trembath RC, Kabra M, Baple EL, Thakur S, Patton MA, Beetz C, Pawlak R, Crosby AH. Harlalka GV, et al. Among authors: simpson ma. Hum Mutat. 2016 Nov;37(11):1157-1161. doi: 10.1002/humu.23060. Epub 2016 Aug 30. Hum Mutat. 2016. PMID: 27492651
Cross-phenotype association mapping of the MHC identifies genetic variants that differentiate psoriatic arthritis from psoriasis.
Bowes J, Ashcroft J, Dand N, Jalali-Najafabadi F, Bellou E, Ho P, Marzo-Ortega H, Helliwell PS, Feletar M, Ryan AW, Kane DJ, Korendowych E, Simpson MA, Packham J, McManus R, Brown MA, Smith CH, Barker JN, McHugh N, FitzGerald O, Warren RB, Barton A. Bowes J, et al. Among authors: simpson ma. Ann Rheum Dis. 2017 Oct;76(10):1774-1779. doi: 10.1136/annrheumdis-2017-211414. Epub 2017 Aug 18. Ann Rheum Dis. 2017. PMID: 28821532 Free PMC article.
Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling.
Dand N, Mucha S, Tsoi LC, Mahil SK, Stuart PE, Arnold A, Baurecht H, Burden AD, Callis Duffin K, Chandran V, Curtis CJ, Das S, Ellinghaus D, Ellinghaus E, Enerback C, Esko T, Gladman DD, Griffiths CEM, Gudjonsson JE, Hoffman P, Homuth G, Hüffmeier U, Krueger GG, Laudes M, Lee SH, Lieb W, Lim HW, Löhr S, Mrowietz U, Müller-Nurayid M, Nöthen M, Peters A, Rahman P, Reis A, Reynolds NJ, Rodriguez E, Schmidt CO, Spain SL, Strauch K, Tejasvi T, Voorhees JJ, Warren RB, Weichenthal M, Weidinger S, Zawistowski M, Nair RP, Capon F, Smith CH, Trembath RC, Abecasis GR, Elder JT, Franke A, Simpson MA, Barker JN. Dand N, et al. Among authors: simpson ma. Hum Mol Genet. 2017 Nov 1;26(21):4301-4313. doi: 10.1093/hmg/ddx328. Hum Mol Genet. 2017. PMID: 28973304 Free PMC article.
De novo mutations implicate novel genes in systemic lupus erythematosus.
Pullabhatla V, Roberts AL, Lewis MJ, Mauro D, Morris DL, Odhams CA, Tombleson P, Liljedahl U, Vyse S, Simpson MA, Sauer S, de Rinaldis E, Syvänen AC, Vyse TJ. Pullabhatla V, et al. Among authors: simpson ma. Hum Mol Genet. 2018 Feb 1;27(3):421-429. doi: 10.1093/hmg/ddx407. Hum Mol Genet. 2018. PMID: 29177435 Free PMC article.
Genome-wide meta-analysis implicates mediators of hair follicle development and morphogenesis in risk for severe acne.
Petridis C, Navarini AA, Dand N, Saklatvala J, Baudry D, Duckworth M, Allen MH, Curtis CJ, Lee SH, Burden AD, Layton A, Bataille V, Pink AE; Acne Genetic Study Group; Carlavan I, Voegel JJ, Spector TD, Trembath RC, McGrath JA, Smith CH, Barker JN, Simpson MA. Petridis C, et al. Among authors: simpson ma. Nat Commun. 2018 Dec 12;9(1):5075. doi: 10.1038/s41467-018-07459-5. Nat Commun. 2018. PMID: 30542056 Free PMC article.
HLA-C*06:02 genotype is a predictive biomarker of biologic treatment response in psoriasis.
Dand N, Duckworth M, Baudry D, Russell A, Curtis CJ, Lee SH, Evans I, Mason KJ, Alsharqi A, Becher G, Burden AD, Goodwin RG, McKenna K, Murphy R, Perera GK, Rotarescu R, Wahie S, Wright A, Reynolds NJ, Warren RB, Griffiths CEM, Smith CH, Simpson MA, Barker JN; BADBIR Study Group; BSTOP Study Group; PSORT Consortium. Dand N, et al. Among authors: simpson ma. J Allergy Clin Immunol. 2019 Jun;143(6):2120-2130. doi: 10.1016/j.jaci.2018.11.038. Epub 2018 Dec 20. J Allergy Clin Immunol. 2019. PMID: 30578879 Free article.
Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02.
Tziotzios C, Petridis C, Dand N, Ainali C, Saklatvala JR, Pullabhatla V, Onoufriadis A, Pramanik R, Baudry D, Lee SH, Wood K, Liu L, Seegobin S, Michelotti GA, Lwin SM, Christou EAA, Curtis CJ, de Rinaldis E, Saxena A, Holmes S, Harries M, Palamaras I, Cunningham F, Parkins G, Kaur M, Farrant P, McDonagh A, Messenger A, Jones J, Jolliffe V, Ali I, Ardern-Jones M, Mitchell C, Burrows N, Atkar R, Banfield C, Alexandroff A, Champagne C, Cooper HL, Vañó-Galván S, Molina-Ruiz AM, Perez NO, Patel GK, Macbeth A, Page M, Bryden A, Mowbray M, Wahie S, Armstrong K, Cooke N, Goodfield M, Man I, de Berker D, Dunnill G, Takwale A, Rao A, Siah TW, Sinclair R, Wade MS, Dlova NC, Setterfield J, Lewis F, Bhargava K, Kirkpatrick N, Estivill X, Stefanato CM, Flohr C, Spector T, Watt FM, Smith CH, Barker JN, Fenton DA, Simpson MA, McGrath JA. Tziotzios C, et al. Among authors: simpson ma. Nat Commun. 2019 Mar 8;10(1):1150. doi: 10.1038/s41467-019-09117-w. Nat Commun. 2019. PMID: 30850646 Free PMC article.
397 results