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Page 1
Identification of Rare Loss-of-Function Genetic Variation Regulating Body Fat Distribution.
Koprulu M, Zhao Y, Wheeler E, Dong L, Rocha N, Li C, Griffin JD, Patel S, Van de Streek M, Glastonbury CA, Stewart ID, Day FR, Luan J, Bowker N, Wittemans LBL, Kerrison ND, Cai L, Lucarelli DME, Barroso I, McCarthy MI, Scott RA, Saudek V, Small KS, Wareham NJ, Semple RK, Perry JRB, O'Rahilly S, Lotta LA, Langenberg C, Savage DB. Koprulu M, et al. Among authors: zhao y. J Clin Endocrinol Metab. 2022 Mar 24;107(4):1065-1077. doi: 10.1210/clinem/dgab877. J Clin Endocrinol Metab. 2022. PMID: 34875679 Free PMC article.
Detection and characterization of male sex chromosome abnormalities in the UK Biobank study.
Zhao Y, Gardner EJ, Tuke MA, Zhang H, Pietzner M, Koprulu M, Jia RY, Ruth KS, Wood AR, Beaumont RN, Tyrrell J, Jones SE, Lango Allen H, Day FR, Langenberg C, Frayling TM, Weedon MN, Perry JRB, Ong KK, Murray A. Zhao Y, et al. Genet Med. 2022 Sep;24(9):1909-1919. doi: 10.1016/j.gim.2022.05.011. Epub 2022 Jun 9. Genet Med. 2022. PMID: 35687092 Free article.
Population analyses of mosaic X chromosome loss identify genetic drivers and widespread signatures of cellular selection.
Liu A, Genovese G, Zhao Y, Pirinen M, Zekavat MM, Kentistou K, Yang Z, Yu K, Vlasschaert C, Liu X, Brown DW, Hudjashov G, Gorman B, Dennis J, Zhou W, Momozawa Y, Pyarajan S, Tuzov V, Pajuste FD, Aavikko M, Sipilä TP, Ghazal A, Huang WY, Freedman N, Song L, Gardner EJ, Sankaran VG, Palotie A, Ollila HM, Tukiainen T, Chanock SJ, Mägi R, Natarajan P, Daly MJ, Bick A, McCarroll SA, Terao C, Loh PR, Ganna A, Perry JRB, Machiela MJ. Liu A, et al. Among authors: zhao y. medRxiv [Preprint]. 2023 Jan 31:2023.01.28.23285140. doi: 10.1101/2023.01.28.23285140. medRxiv. 2023. PMID: 36778285 Free PMC article. Preprint.
Genome-wide analysis identifies genetic effects on reproductive success and ongoing natural selection at the FADS locus.
Mathieson I, Day FR, Barban N, Tropf FC, Brazel DM; eQTLGen Consortium; BIOS Consortium; Vaez A, van Zuydam N, Bitarello BD, Gardner EJ, Akimova ET, Azad A, Bergmann S, Bielak LF, Boomsma DI, Bosak K, Brumat M, Buring JE, Cesarini D, Chasman DI, Chavarro JE, Cocca M, Concas MP, Davey Smith G, Davies G, Deary IJ, Esko T, Faul JD; FinnGen Study; Franco O, Ganna A, Gaskins AJ, Gelemanovic A, de Geus EJC, Gieger C, Girotto G, Gopinath B, Grabe HJ, Gunderson EP, Hayward C, He C, van Heemst D, Hill WD, Hoffmann ER, Homuth G, Hottenga JJ, Huang H, Hyppӧnen E, Ikram MA, Jansen R, Johannesson M, Kamali Z, Kardia SLR, Kavousi M, Kifley A, Kiiskinen T, Kraft P, Kühnel B, Langenberg C, Liew G; Lifelines Cohort Study; Lind PA, Luan J, Mägi R, Magnusson PKE, Mahajan A, Martin NG, Mbarek H, McCarthy MI, McMahon G, Medland SE, Meitinger T, Metspalu A, Mihailov E, Milani L, Missmer SA, Mitchell P, Møllegaard S, Mook-Kanamori DO, Morgan A, van der Most PJ, de Mutsert R, Nauck M, Nolte IM, Noordam R, Penninx BWJH, Peters A, Peyser PA, Polašek O, Power C, Pribisalic A, Redmond P, Rich-Edwards JW, Ridker PM, Rietveld CA, Ring SM, Rose LM, Rueedi R, Shukla V, Smith JA, Stankovic S, Stefánsson K, Stöckl… See abstract for full author list ➔ Mathieson I, et al. Among authors: zhao y, zhao w, zhao jh. Nat Hum Behav. 2023 May;7(5):790-801. doi: 10.1038/s41562-023-01528-6. Epub 2023 Mar 2. Nat Hum Behav. 2023. PMID: 36864135 Free article.
Large-scale exome sequence analysis identifies sex- and age-specific determinants of obesity.
Kaisinger LR, Kentistou KA, Stankovic S, Gardner EJ, Day FR, Zhao Y, Mörseburg A, Carnie CJ, Zagnoli-Vieira G, Puddu F, Jackson SP, O'Rahilly S, Farooqi IS, Dearden L, Pantaleão LC, Ozanne SE, Ong KK, Perry JRB. Kaisinger LR, et al. Among authors: zhao y. Cell Genom. 2023 Aug 2;3(8):100362. doi: 10.1016/j.xgen.2023.100362. eCollection 2023 Aug 9. Cell Genom. 2023. PMID: 37601970 Free PMC article.
Shared and distinct genetic etiologies for different types of clonal hematopoiesis.
Brown DW, Cato LD, Zhao Y, Nandakumar SK, Bao EL, Gardner EJ, Hubbard AK, DePaulis A, Rehling T, Song L, Yu K, Chanock SJ, Perry JRB, Sankaran VG, Machiela MJ. Brown DW, et al. Among authors: zhao y. Nat Commun. 2023 Sep 8;14(1):5536. doi: 10.1038/s41467-023-41315-5. Nat Commun. 2023. PMID: 37684235 Free PMC article.
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. 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.
Rare variant associations with birth weight identify genes involved in adipose tissue regulation, placental function and insulin-like growth factor signalling.
Kentistou KA, Lim BEM, Kaisinger LR, Steinthorsdottir V, Sharp LN, Patel KA, Tragante V, Hawkes G, Gardner EJ, Olafsdottir T, Wood AR, Zhao Y, Thorleifsson G, Day FR, Ozanne SE, Hattersley AT, O'Rahilly S, Stefansson K, Ong KK, Beaumont RN, Perry JRB, Freathy RM. Kentistou KA, et al. Among authors: zhao y. medRxiv [Preprint]. 2024 Apr 3:2024.04.03.24305248. doi: 10.1101/2024.04.03.24305248. medRxiv. 2024. PMID: 38633783 Free PMC article. Preprint.
Genetic drivers and cellular selection of female mosaic X chromosome loss.
Liu A, Genovese G, Zhao Y, Pirinen M, Zekavat SM, Kentistou KA, Yang Z, Yu K, Vlasschaert C, Liu X, Brown DW, Hudjashov G, Gorman BR, Dennis J, Zhou W, Momozawa Y, Pyarajan S, Tuzov V, Pajuste FD, Aavikko M, Sipilä TP, Ghazal A, Huang WY, Freedman ND, Song L, Gardner EJ; FinnGen; Estonian Biobank Research Team; Breast Cancer Association Consortium; Million Veteran Program; Sankaran VG, Palotie A, Ollila HM, Tukiainen T, Chanock SJ, Mägi R, Natarajan P, Daly MJ, Bick A, McCarroll SA, Terao C, Loh PR, Ganna A, Perry JRB, Machiela MJ. Liu A, et al. Among authors: zhao y. Nature. 2024 Jul;631(8019):134-141. doi: 10.1038/s41586-024-07533-7. Epub 2024 Jun 12. Nature. 2024. PMID: 38867047
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