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The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L, Collins J, Sims MC, Barrio-Hernandez I, Sun L, Burren OS, Perfetto L, Bender I, Callahan TJ, Fleming K, Guerrero JA, Hermjakob H, Martin MJ, Stephenson J, Paneerselvam K, Petrovski S, Porras P, Robinson PN, Wang Q, Watkins X, Frontini M, Laskowski RA, Beltrao P, Di Angelantonio E, Gomez K, Laffan M, Ouwehand WH, Mumford AD, Freson K, Carss K, Downes K, Gleadall N, Megy K, Bruford E, Vuckovic D. Stefanucci L, et al. Among authors: petrovski s. Blood. 2023 Dec 14;142(24):2055-2068. doi: 10.1182/blood.2023020118. Blood. 2023. PMID: 37647632 Free PMC article.
Spontaneous Coronary Artery Dissection: Insights on Rare Genetic Variation From Genome Sequencing.
Carss KJ, Baranowska AA, Armisen J, Webb TR, Hamby SE, Premawardhana D, Al-Hussaini A, Wood A, Wang Q, Deevi SVV, Vitsios D, Lewis SH, Kotecha D, Bouatia-Naji N, Hesselson S, Iismaa SE, Tarr I, McGrath-Cadell L, Muller DW, Dunwoodie SL, Fatkin D, Graham RM, Giannoulatou E, Samani NJ, Petrovski S, Haefliger C, Adlam D. Carss KJ, et al. Among authors: petrovski s. Circ Genom Precis Med. 2020 Dec;13(6):e003030. doi: 10.1161/CIRCGEN.120.003030. Epub 2020 Oct 30. Circ Genom Precis Med. 2020. PMID: 33125268 Free PMC article.
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: petrovski 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.
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. Among authors: petrovski s. 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: petrovski s. 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.
Rare variant associations with plasma protein levels in the UK Biobank.
Dhindsa RS, Burren OS, Sun BB, Prins BP, Matelska D, Wheeler E, Mitchell J, Oerton E, Hristova VA, Smith KR, Carss K, Wasilewski S, Harper AR, Paul DS, Fabre MA, Runz H, Viollet C, Challis B, Platt A; AstraZeneca Genomics Initiative; Vitsios D, Ashley EA, Whelan CD, Pangalos MN, Wang Q, Petrovski S. Dhindsa RS, et al. Among authors: petrovski s. Nature. 2023 Oct;622(7982):339-347. doi: 10.1038/s41586-023-06547-x. Epub 2023 Oct 4. Nature. 2023. PMID: 37794183 Free PMC article.
Phenome-wide identification of therapeutic genetic targets, leveraging knowledge graphs, graph neural networks, and UK Biobank data.
Middleton L, Melas I, Vasavda C, Raies A, Rozemberczki B, Dhindsa RS, Dhindsa JS, Weido B, Wang Q, Harper AR, Edwards G, Petrovski S, Vitsios D. Middleton L, et al. Among authors: petrovski s. Sci Adv. 2024 May 10;10(19):eadj1424. doi: 10.1126/sciadv.adj1424. Epub 2024 May 8. Sci Adv. 2024. PMID: 38718126 Free PMC article.
265 results