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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: dhindsa rs. 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. Commun Biol. 2021 Mar 23;4(1):392. doi: 10.1038/s42003-021-01910-y. Commun Biol. 2021. PMID: 33758299 Free PMC article.
Human genetics uncovers MAP3K15 as an obesity-independent therapeutic target for diabetes.
Nag A, Dhindsa RS, Mitchell J, Vasavda C, Harper AR, Vitsios D, Ahnmark A, Bilican B, Madeyski-Bengtson K, Zarrouki B, Zoghbi AW, Wang Q, Smith KR, Alegre-Díaz J, Kuri-Morales P, Berumen J, Tapia-Conyer R, Emberson J, Torres JM, Collins R, Smith DM, Challis B, Paul DS, Bohlooly-Y M, Snowden M, Baker D, Fritsche-Danielson R, Pangalos MN, Petrovski S. Nag A, et al. Among authors: dhindsa rs. Sci Adv. 2022 Nov 18;8(46):eadd5430. doi: 10.1126/sciadv.add5430. Epub 2022 Nov 16. Sci Adv. 2022. PMID: 36383675 Free PMC article.
A minimal role for synonymous variation in human disease.
Dhindsa RS, Wang Q, Vitsios D, Burren OS, Hu F, DiCarlo JE, Kruglyak L, MacArthur DG, Hurles ME, Petrovski S. Dhindsa RS, et al. Am J Hum Genet. 2022 Dec 1;109(12):2105-2109. doi: 10.1016/j.ajhg.2022.10.016. Am J Hum Genet. 2022. PMID: 36459978 Free PMC article.
Effects of protein-coding variants on blood metabolite measurements and clinical biomarkers in the UK Biobank.
Nag A, Dhindsa RS, Middleton L, Jiang X, Vitsios D, Wigmore E, Allman EL, Reznichenko A, Carss K, Smith KR, Wang Q, Challis B, Paul DS, Harper AR, Petrovski S. Nag A, et al. Among authors: dhindsa rs. Am J Hum Genet. 2023 Mar 2;110(3):487-498. doi: 10.1016/j.ajhg.2023.02.002. Epub 2023 Feb 20. Am J Hum Genet. 2023. PMID: 36809768 Free PMC article.
73 results