Anna Murray

The paper combines genetic risk scores with PSA test results and age to improve prostate cancer prediction, showing better performance than using either method alone.

This study uses whole-genome sequencing in 672,976 individuals to show rare and common variants converge in genetic associations for anthropometric traits, with ultra-rare variants explaining less than 10% of heritability.

This study identifies a variant in PARP1 associated with earlier menopause by affecting primordial germ cell fate through altered DNA binding and transcriptional regulation.

The paper uses whole-genome sequencing data from UK Biobank participants to identify rare non-coding variants and regions associated with circulating protein levels.

The paper identifies genetic variants linked to ovarian ageing and shows they increase offspring de novo mutation rates, demonstrating heritability of female mutation rate.

This paper identifies a genetic association between NK3R (TACR3) and menopausal vasomotor symptoms (VMS) using GWAS, while finding no link between rare NK3R variants and VMS despite the efficacy of NK3R antagonists.

This study identifies a genetic variant associated with AMH levels in pre-menopausal women and links AMH to reproductive lifespan.

The paper identifies genetic determinants of mosaic Y chromosome loss in blood and links it to genomic instability and non-haematological cancer risk.

A GWAS of erectile dysfunction identifies a new locus at 6q16.3, implicating hypothalamic neurobiology and diabetes in its etiology.

This study identifies 47 genetic associations with sleep traits using accelerometer data from 85,670 individuals, including novel variants for sleep quality and duration.

This study identifies 351 new genetic loci associated with chronotype using data from 697,828 individuals and links them to circadian biology and disease.

This study examines X chromosome aneuploidy in an adult population, finding reduced phenotypic penetrance in mosaic 45,X/46,XX cases compared to clinically ascertained cases.

This study identifies maternal genetic variants associated with offspring birth weight using GWAS and SEM, showing independent effects from fetal genetics.

A common FGF21 allele is associated with lower body fat in the lower body, higher blood pressure, and increased carbohydrate intake in a large human cohort.

This study identifies genetic variants associated with red blood cell distribution width (RDW) in 166,666 UK Biobank volunteers, linking RDW to aging-related pathways and health outcomes.

This study quantifies index event bias in large genetic association studies and finds it can explain some associations between disease risk alleles and BMI.

This study identifies genetic variants associated with parental longevity using GWAS on 75,000 UK Biobank participants, finding multiple protective factors linked to longer lifespan.

The paper identifies recessive genetic effects at FTO and CDKAL1 loci for obesity and type 2 diabetes using dominance deviation models in large cohorts.

This study identifies a genetic variant lowering FSH levels that is associated with longer menstrual cycles, later menopause, and reduced endometriosis risk, but not with PCOS or male infertility.