Phenome-wide association study of predicted loss of function variants and 34 biomarkers in 255,873 UK Biobank whole exome sequences

Gene-level analysis of loss of function variants in 246,731 whole exome sequences reveals a novel association with diabetes

Association of missense variants in the transthyretin gene with hereditary transthyretin mediated amyloidosis in 302,330 UK Biobank whole exome sequences