Publications

Key publications from the Reproductive Genomics Group: 

Stankovic S, Shekari S, Huang QQ, Gardner EJ, Owens NDL, Azad A, Hawkes G, Kentistou KA, Beaumont RN, Day FR, et al (2024). Genetic links between ovarian ageing, cancer risk and de novo mutation rates. Nature, 633, 608–614. https://www.nature.com/articles/s41586-024-07931-x

Shekari S, Stankovic S, Gardner EJ, Hawkes G, Kentistou KA, Beaumont RN, Mörseburg A, Wood AR, Prague JK, Mishra GD, et al (2023). Penetrance of pathogenic genetic variants associated with premature ovarian insufficiency. Nat Med, 29(7), 1692-1699. PubMed

Prague JK. Neurokinin 3 receptor antagonists for menopausal vasomotor symptoms (2023). The Lancet, 401, 1055–8. https://doi.org/10.1016/S0140-6736(23)00353-7. 

Ruth KS, Beaumont RN, Locke JM, Tyrrell J, Crandall CJ, Hawkes G, et al (2023). Insights into the genetics of menopausal vasomotor symptoms: genome-wide analyses of routinely-collected primary care health records. BMC Medical Genomics, 16, 231. https://bmcmedgenomics.biomedcentral.com/articles/10.1186/s12920-023-01658-w

Zhao Y, Gardner EJ, Tuke MA, Zhang H, Pietzner M, Koprulu M, Jia RY, Ruth KS, Wood AR, Beaumont RN, et al (2022). Detection and characterization of male sex chromosome abnormalities in the UK Biobank study. Genet Med, 24(9), 1909-1919. PubMed

Ruth KS, Day FR, Hussain J, Martínez-Marchal A, Aiken CE, Azad A, Thompson DJ, Knoblochova L, Abe H, Tarry-Adkins JL, et al (2021). Genetic insights into biological mechanisms governing human ovarian ageing. Nature, 596(7872), 393-397. PubMed

Ruth KS, Day FR, Tyrrell J, Thompson DJ, Wood AR, Mahajan A, Beaumont RN, Wittemans L, Martin S, Busch AS, et al (2020). Using human genetics to understand the disease impacts of testosterone in men and women. Nature Medicine, 26(2), 252-258. PubMed

Ruth KS, Soares ALG, Borges M-C, Eliassen AH, Hankinson SE, Jones ME, Kraft P, Nichols HB, Sandler DP, Schoemaker MJ, et al (2019). Genome-wide association study of anti-Müllerian hormone levels in pre-menopausal women of late reproductive age and relationship with genetic determinants of reproductive lifespan. Hum Mol Genet, 28(8), 1392-1401. PubMed

Prague JK, Roberts RE, Comninos AN, Clarke S, Jayasena CN, Nash Z, et al (2017). Neurokinin 3 receptor antagonism as a novel treatment for menopausal hot flushes: a phase 2, randomised, double-blind, placebo-controlled trial. The Lancet, 389, 1809–20. PubMed