Felix R. Day

The paper identifies rare genetic variants associated with birth weight, highlighting genes involved in adipose tissue regulation, placental function, and insulin-like growth factor signaling.

This study examines how ancestry and environmental factors influence de novo mutation rates and spectra in a large whole-genome sequenced cohort, finding ancestry-related effects and a link between tobacco smoke exposure and increased mutation rates.

This study identifies damaging LXRα mutations linked to reduced triglycerides but increased liver enzyme levels and hepatotoxicity, suggesting LXR's role in liver health and cautioning against its inhibition for MASLD treatment.

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 identifies protein-truncating variants in BSN associated with severe adult-onset obesity, type 2 diabetes, and fatty liver disease, with no effect on childhood adiposity.

This study identifies 43 genomic loci associated with reproductive success in 785,604 individuals, showing ongoing natural selection at the FADS locus.

The paper estimates SNP heritability of de novo mutations in offspring using the 100k Genomes Project cohort, finding paternal but not maternal genetic contributions.

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

The paper uses genetic variation to assess the causal impact of food choices on health outcomes, identifying robust associations between eating patterns and several diseases.

This study identifies rare loss of function variants in four genes associated with beneficial changes in body fat distribution using genome-wide and exome-sequence data from UK Biobank.

The paper identifies genetic variants influencing DNA methylation in blood and shows their associations with complex traits and diseases, but finds limited direct causality.

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.

The paper identifies sex-differential participation bias in genetic studies by performing GWAS on sex in 3.3 million individuals, finding 158 loci associated with sex and highlighting traits like BMI that may influence participation.

This study identifies 370 genetic loci associated with age at first sex and birth, linking them to externalising behaviour and reproductive biology.

This paper identifies novel genetic variants associated with PCOS using EHR-based GWAS and validates them in independent cohorts.

This study develops a polygenic and phenotypic risk score for PCOS using EHR data, showing improved detection and identifying shared metabolic and endocrine comorbidities.

This study identifies genetic effects on birth weight and their impact on cardio-metabolic traits, distinguishing fetal and maternal contributions.

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

This study performs a large-scale genome-wide meta-analysis of PCOS cases and identifies genetic loci associated with PCOS and related traits, showing shared genetic architecture across different diagnostic criteria.

This study identifies 78 genetic signals for male puberty timing using a large sample of men, revealing links to hair color and health outcomes.

This study identifies rare variant associations with fat distribution and cardio-metabolic risk, implicating intracellular lipolysis genes in these traits.

This study identifies 26 genetic loci associated with reproductive ageing in a Japanese population, highlighting differences in allele frequencies and effect estimates compared to European populations.

This study identifies 4 new risk loci for cannabis use through GWAS, finds genetic overlap with mental health, and shows a causal link between schizophrenia and cannabis use.

This study replicates and extends findings of CADM2 and MSRA gene associations with personality traits using data from 23andMe.

This study identifies genetic variants associated with epigenetic age acceleration and shows TERT's role in regulating the DNA methylation clock.