Dan Mason

This pilot study identifies British South Asians at high risk of cholestatic liver disease through genetic and phenotypic recall, finding 66.7% of participants had undetected liver disease.

This study estimates that ~6% of insulin-treated diabetic individuals with ambiguous features in British Pakistanis and Bangladeshis have T1D, highlighting the need for autoantibody and C-peptide testing.

This study uses longitudinal meta-regression to examine how DNA methylation effects on child health outcomes vary by timing, finding larger effects in childhood but noisier associations and time-specific signals.

This study conducts a genome-wide association analysis of blood mercury levels in pregnant women and children, identifying suggestive genetic variants but lacking replication across populations.

The paper identifies PIK3R3 as a candidate regulator of platelet count in Bangladeshi ancestry individuals through GWAS and functional analysis.

This paper identifies 39,749 autosomal cis-eQTMs in children's blood using HELIX data, showing most are near genes and many have genetic variants associated with methylation and expression.

metaboprep provides an R package for standardized pre-analysis processing and reporting of metabolomics data, enabling quality assessment and sample/metabolite selection.

This study examines the population structure and demographic history of British Pakistanis, revealing strong recent structure and low effective population sizes due to endogamy and consanguinity.

The paper examines the effect of fetal genetic predispositions to metabolically favourable adult adiposity and BMI on birth weight and other anthropometric traits, finding stronger associations with birth weight for the adiposity alleles.

This study uses Mendelian Randomisation to show that maternal metabolically favourable adiposity is associated with lower offspring birth weight compared to general adiposity indexed by BMI.

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 identifies 137 genome-wide significant loci associated with DNA methylation biomarkers of ageing using DNAm and SNP data from over 41,000 individuals.

The paper identifies a healthy individual with complete HAO1 knockout, showing normal oxalate levels but elevated glycolate, supporting the safety of HAO1 inhibition for PH1 therapy.

The paper analyzes genetic variants at the PCSK9 locus to assess their phenotypic effects on lipid levels and disease outcomes, finding concordance with PCSK9 inhibitor trials for myocardial infarction but discordance for type 2 diabetes.

The paper estimates the human mutation rate using autozygous segments from 3,222 British-Pakistani individuals, finding a lower mutation rate than previous estimates and population-specific mutational patterns.

The paper estimates the health effects of rare gene knockouts in adults by analyzing exome sequencing data and health records, finding no significant disease associations.