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436 results

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Page 1
Penetrance of pathogenic genetic variants associated with premature ovarian insufficiency.
Shekari S, Stankovic S, Gardner EJ, Hawkes G, Kentistou KA, Beaumont RN, Mörseburg A, Wood AR, Prague JK, Mishra GD, Day FR, Baptista J, Wright CF, Weedon MN, Hoffmann ER, Ruth KS, Ong KK, Perry JRB, Murray A. Shekari S, et al. Among authors: ong kk. Nat Med. 2023 Jul;29(7):1692-1699. doi: 10.1038/s41591-023-02405-5. Epub 2023 Jun 22. Nat Med. 2023. PMID: 37349538
Evidence for three genetic loci involved in both anorexia nervosa risk and variation of body mass index.
Hinney A, Kesselmeier M, Jall S, Volckmar AL, Föcker M, Antel J; GCAN; WTCCC3; Heid IM, Winkler TW; GIANT; Grant SF; EGG; Guo Y, Bergen AW, Kaye W, Berrettini W, Hakonarson H; Price Foundation Collaborative Group; Children’s Hospital of Philadelphia/Price Foundation; Herpertz-Dahlmann B, de Zwaan M, Herzog W, Ehrlich S, Zipfel S, Egberts KM, Adan R, Brandys M, van Elburg A, Boraska Perica V, Franklin CS, Tschöp MH, Zeggini E, Bulik CM, Collier D, Scherag A, Müller TD, Hebebrand J. Hinney A, et al. Mol Psychiatry. 2017 Feb;22(2):192-201. doi: 10.1038/mp.2016.71. Epub 2016 May 17. Mol Psychiatry. 2017. PMID: 27184124 Free PMC 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: ong kk. 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.
Body mass index stratified meta-analysis of genome-wide association studies of polycystic ovary syndrome in women of European ancestry.
Burns K, Mullin BH, Moolhuijsen LME, Laisk T, Tyrmi JS, Cui J, Actkins KV, Louwers YV; Estonian Biobank Research Team; Davis LK, Dudbridge F, Azziz R, Goodarzi MO, Laivuori H, Mägi R, Visser JA, Laven JSE, Wilson SG; FinnGen; International PCOS Consortium; Day FR, Stuckey BGA. Burns K, et al. BMC Genomics. 2024 Feb 26;25(1):208. doi: 10.1186/s12864-024-09990-w. BMC Genomics. 2024. PMID: 38408933 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: ong kk. medRxiv [Preprint]. 2024 Apr 3:2024.04.03.24305248. doi: 10.1101/2024.04.03.24305248. medRxiv. 2024. PMID: 38633783 Free PMC article. Preprint.
Genome-wide association study meta-analysis of dizygotic twinning illuminates genetic regulation of female fecundity.
Mbarek H, Gordon SD, Duffy DL, Hubers N, Mortlock S, Beck JJ, Hottenga JJ, Pool R, Dolan CV, Actkins KV, Gerring ZF, Van Dongen J, Ehli EA, Iacono WG, Mcgue M, Chasman DI, Gallagher CS, Schilit SLP, Morton CC, Paré G, Willemsen G, Whiteman DC, Olsen CM, Derom C, Vlietinck R, Gudbjartsson D, Cannon-Albright L, Krapohl E, Plomin R, Magnusson PKE, Pedersen NL, Hysi P, Mangino M, Spector TD, Palviainen T, Milaneschi Y, Penninnx BW, Campos AI, Ong KK, Perry JRB, Lambalk CB, Kaprio J, Ólafsson Í, Duroure K, Revenu C, Rentería ME, Yengo L, Davis L, Derks EM, Medland SE, Stefansson H, Stefansson K, Del Bene F, Reversade B, Montgomery GW, Boomsma DI, Martin NG. Mbarek H, et al. Among authors: ong kk. Hum Reprod. 2024 Jan 5;39(1):240-257. doi: 10.1093/humrep/dead247. Hum Reprod. 2024. PMID: 38052102 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. Among authors: ong kk. 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.
436 results