Katherine S. Ruth

This study examines genotype-treatment interactions in endocrine therapy for breast cancer using UK Biobank data and finds no significant associations between genomic variants and adverse drug effects.

This paper develops a polygenic risk score model to predict colorectal cancer risk in symptomatic patients using UK Biobank data, achieving high predictive accuracy.

This study identifies 31 plasma proteins and expands genetic loci associated with PCOS, highlighting metabolic and hormonal influences and polygenic risk effects on cardio-metabolic outcomes.

The paper examines how family history affects cancer penetrance in individuals with pathogenic variants, finding higher risks with family history for BRCA1/2 and Lynch syndrome.

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 conducts a genome-wide association meta-analysis of childhood aggression across multiple raters, instruments, and ages, identifying genetic correlations with various traits but no genome-wide significant SNPs.

This study evaluates SNP-chip accuracy for detecting rare pathogenic variants and finds low precision for very rare variants, highlighting risks for DTC genetic testing.

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

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.