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Rare variant contribution to human disease in 281,104 UK Biobank exomes.
Wang Q, Dhindsa RS, Carss K, Harper AR, Nag A, Tachmazidou I, Vitsios D, Deevi SVV, Mackay A, Muthas D, Hühn M, Monkley S, Olsson H; AstraZeneca Genomics Initiative; Wasilewski S, Smith KR, March R, Platt A, Haefliger C, Petrovski S. Wang Q, et al. Among authors: monkley s. Nature. 2021 Sep;597(7877):527-532. doi: 10.1038/s41586-021-03855-y. Epub 2021 Aug 10. Nature. 2021. PMID: 34375979 Free PMC article.
Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis.
Dhindsa RS, Mattsson J, Nag A, Wang Q, Wain LV, Allen R, Wigmore EM, Ibanez K, Vitsios D, Deevi SVV, Wasilewski S, Karlsson M, Lassi G, Olsson H, Muthas D, Monkley S, Mackay A, Murray L, Young S, Haefliger C; FinnGen Consortium; Maher TM, Belvisi MG, Jenkins G, Molyneaux PL, Platt A, Petrovski S. Dhindsa RS, et al. Among authors: monkley s. Commun Biol. 2021 Mar 23;4(1):392. doi: 10.1038/s42003-021-01910-y. Commun Biol. 2021. PMID: 33758299 Free PMC article.
Sensitization of the UPR by loss of PPP1R15A promotes fibrosis and senescence in IPF.
Monkley S, Overed-Sayer C, Parfrey H, Rassl D, Crowther D, Escudero-Ibarz L, Davis N, Carruthers A, Berks R, Coetzee M, Kolosionek E, Karlsson M, Griffin LR, Clausen M, Belfield G, Hogaboam CM, Murray LA. Monkley S, et al. Sci Rep. 2021 Nov 3;11(1):21584. doi: 10.1038/s41598-021-00769-7. Sci Rep. 2021. PMID: 34732748 Free PMC article.
Allergic sensitization impairs lung resident memory CD8 T-cell response and virus clearance.
Agrawal K, Ong LC, Monkley S, Thörn K, Israelsson E, Baturcam E, Rist C, Schön K, Blake S, Magnusson B, Cartwright J, Mitra S, Ravi A, Zounemat-Kermani N, Krishnaswamy JK, Lycke NY, Gehrmann U, Mattsson J; U-BIOPRED Study Group. Agrawal K, et al. Among authors: monkley s. J Allergy Clin Immunol. 2022 Dec;150(6):1415-1426.e9. doi: 10.1016/j.jaci.2022.07.004. Epub 2022 Jul 30. J Allergy Clin Immunol. 2022. PMID: 35917932
46 results