Publications

Gene-level analysis of rare variants in 363,977 whole exome sequences reveals an association of GIGYF1 loss of function with diabetes » FULL ARTICLE
Insights into breast cancer susceptibility genes from analysis of 300k UK Biobank exomes » FULL ARTICLE
Cases of acute hepatic porphyria in the UK Biobank: insights from exome sequencing » FULL ARTICLE
Phenome-wide association study of predicted loss of function variants and 34 biomarkers in 255,873 UK Biobank whole exome sequences » FULL ARTICLE
Gene-level analysis of loss of function variants in 246,731 whole exome sequences reveals a novel association with diabetes » FULL ARTICLE
Association of missense variants in the transthyretin gene with hereditary transthyretin mediated amyloidosis in 302,330 UK Biobank whole exome sequences » FULL ARTICLE
Genome-wide association study of circulating liver enzymes reveals an expanded role for manganese transporter SLC30A10 in liver health » FULL ARTICLE
Transthyretin-stabilizing mutation T119M is not associated with protection against vascular disease or death in the UK Biobank » FULL ARTICLE
The V122I Mutation in Hereditary Transthyretin-Mediated Amyloidosis is Significantly Associated with Polyneuropathy » FULL ARTICLE
Components of genetic associations across 2,138 phenotypes in the UK Biobank highlight adipocyte biology » FULL ARTICLE
Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study » FULL ARTICLE
Bayesian model comparison for rare variant association studies of multiple phenotypes » FULL ARTICLE