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260 results

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Page 1
High-resolution functional mapping of RAD51C by saturation genome editing.
Olvera-León R, Zhang F, Offord V, Zhao Y, Tan HK, Gupta P, Pal T, Robles-Espinoza CD, Arriaga-González FG, Matsuyama LSAS, Delage E, Dicks E, Ezquina S, Rowlands CF, Turnbull C, Pharoah P, Perry JRB, Jasin M, Waters AJ, Adams DJ. Olvera-León R, et al. Among authors: perry jrb. Cell. 2024 Oct 3;187(20):5719-5734.e19. doi: 10.1016/j.cell.2024.08.039. Epub 2024 Sep 18. Cell. 2024. PMID: 39299233 Free article.
Genetic Variants Associated With Preeclampsia and Maternal Serum sFLT1 Levels.
Mack JA, Sovio U, Day FR, Gaccioli F, Cook E, Bayzid N, Cotic M, Dunton N, Madhan G, Motsinger-Reif A, Perry JRB, Charnock-Jones DS, Smith GCS. Mack JA, et al. Among authors: perry jrb. Hypertension. 2024 Dec 26. doi: 10.1161/HYPERTENSIONAHA.124.23400. Online ahead of print. Hypertension. 2024. PMID: 39723542
Author Correction: 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: perry jrb. Nature. 2024 Dec;636(8043):E7. doi: 10.1038/s41586-024-08215-0. Nature. 2024. PMID: 39627447 No abstract available.
Population-Based Study of Rare Coding Variants in NR5A1/SF-1.
Kouri C, Jia RY, Kentistou KA, Gardner EJ, Perry JRB, Flück CE, Ong KK. Kouri C, et al. Among authors: perry jrb. J Endocr Soc. 2024 Oct 23;8(12):bvae178. doi: 10.1210/jendso/bvae178. eCollection 2024 Oct 29. J Endocr Soc. 2024. PMID: 39479520 Free PMC article.
Damaging mutations in liver X receptor-α are hepatotoxic and implicate cholesterol sensing in liver health.
Lockhart SM, Muso M, Zvetkova I, Lam BYH, Ferrari A, Schoenmakers E, Duckett K, Leslie J, Collins A, Romartínez-Alonso B, Tadross JA, Jia R, Gardner EJ, Kentistou K, Zhao Y, Day F, Mörseburg A, Rainbow K, Rimmington D, Mastantuoni M, Harrison J, Nus M, Guma'a K, Sherratt-Mayhew S, Jiang X, Smith KR, Paul DS, Jenkins B, Koulman A, Pietzner M, Langenberg C, Wareham N, Yeo GS, Chatterjee K, Schwabe J, Oakley F, Mann DA, Tontonoz P, Coll AP, Ong K, Perry JRB, O'Rahilly S. Lockhart SM, et al. Among authors: perry jrb. Nat Metab. 2024 Oct;6(10):1922-1938. doi: 10.1038/s42255-024-01126-4. Epub 2024 Sep 25. Nat Metab. 2024. PMID: 39322746 Free PMC article.
Genetic links between ovarian ageing, cancer risk and de novo mutation rates.
Stankovic S, Shekari S, Huang QQ, Gardner EJ, Ivarsdottir EV, Owens NDL, Mavaddat N, Azad A, Hawkes G, Kentistou KA, Beaumont RN, Day FR, Zhao Y, Jonsson H, Rafnar T, Tragante V, Sveinbjornsson G, Oddsson A, Styrkarsdottir U, Gudmundsson J, Stacey SN, Gudbjartsson DF; Breast Cancer Association Consortium; Kennedy K, Wood AR, Weedon MN, Ong KK, Wright CF, Hoffmann ER, Sulem P, Hurles ME, Ruth KS, Martin HC, Stefansson K, Perry JRB, Murray A. Stankovic S, et al. Among authors: perry jrb. Nature. 2024 Sep;633(8030):608-614. doi: 10.1038/s41586-024-07931-x. Epub 2024 Sep 11. Nature. 2024. PMID: 39261734 Free PMC article.
260 results