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Protein-truncating variants in BSN are associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease.
Zhao Y, Chukanova M, Kentistou KA, Fairhurst-Hunter Z, Siegert AM, Jia RY, Dowsett GKC, Gardner EJ, Lawler K, Day FR, Kaisinger LR, Tung YL, Lam BYH, Chen HC, Wang Q, Berumen-Campos J, Kuri-Morales P, Tapia-Conyer R, Alegre-Diaz J, Barroso I, Emberson J, Torres JM, Collins R, Saleheen D, Smith KR, Paul DS, Merkle F, Farooqi IS, Wareham NJ, Petrovski S, O'Rahilly S, Ong KK, Yeo GSH, Perry JRB. Zhao Y, et al. Among authors: wang q. Nat Genet. 2024 Apr;56(4):579-584. doi: 10.1038/s41588-024-01694-x. Epub 2024 Apr 4. Nat Genet. 2024. PMID: 38575728 Free PMC article.
Annotating pathogenic non-coding variants in genic regions.
Gelfman S, Wang Q, McSweeney KM, Ren Z, La Carpia F, Halvorsen M, Schoch K, Ratzon F, Heinzen EL, Boland MJ, Petrovski S, Goldstein DB. Gelfman S, et al. Among authors: wang q. Nat Commun. 2017 Aug 9;8(1):236. doi: 10.1038/s41467-017-00141-2. Nat Commun. 2017. PMID: 28794409 Free PMC article.
Assessing the Role of Rare Genetic Variation in Patients With Heart Failure.
Povysil G, Chazara O, Carss KJ, Deevi SVV, Wang Q, Armisen J, Paul DS, Granger CB, Kjekshus J, Aggarwal V, Haefliger C, Goldstein DB. Povysil G, et al. Among authors: wang q. JAMA Cardiol. 2021 Apr 1;6(4):379-386. doi: 10.1001/jamacardio.2020.6500. JAMA Cardiol. 2021. PMID: 33326012 Free PMC article.
Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank.
Szustakowski JD, Balasubramanian S, Kvikstad E, Khalid S, Bronson PG, Sasson A, Wong E, Liu D, Wade Davis J, Haefliger C, Katrina Loomis A, Mikkilineni R, Noh HJ, Wadhawan S, Bai X, Hawes A, Krasheninina O, Ulloa R, Lopez AE, Smith EN, Waring JF, Whelan CD, Tsai EA, Overton JD, Salerno WJ, Jacob H, Szalma S, Runz H, Hinkle G, Nioi P, Petrovski S, Miller MR, Baras A, Mitnaul LJ, Reid JG; UKB-ESC Research Team. Szustakowski JD, et al. Nat Genet. 2021 Jul;53(7):942-948. doi: 10.1038/s41588-021-00885-0. Epub 2021 Jun 28. Nat Genet. 2021. PMID: 34183854 Review.
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. 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.
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