Malcolm G. Dunlop

This study shows that germline MUTYH haploinsufficiency increases mutational signature SBS18 and CRC risk, but not other cancers, due to oxidative DNA damage in the colorectum.

This study identifies 16 new genetic loci associated with plasma N-glycosylation in 10,000 individuals and links them to liver disease and inflammatory proteins.

This study identifies rs3087967 as the causal variant at 11q23.1 that increases colorectal cancer risk by dysregulating POU2AF2, a key activator of tuft cell transcription.

The paper analyzes gene expression in normal colorectal mucosa to assess associations with BMI and sex, finding no significant associations after replication.

This study identifies demographic and sampling factors affecting gene expression in normal colorectal mucosa, with age, gender, and sample site showing significant associations.

The paper investigates the relationship between 11q23.1 eQTL targets and tuft cell abundance using scRNA-seq data, finding a correlation between gene expression and cluster-specific tuft cell markers.

This study shows oral vitamin D supplementation changes rectal mucosa gene expression patterns linked to anti-tumor effects, with blood biomarkers HIPK2 and PPP1CC identifying responders.

The paper evaluates normalization methods for glycomics data by assessing how well they enable accurate reconstruction of known glycosylation pathway reactions using Gaussian Graphical Models.

VEP-G2P filters genomic variants for diagnostic purposes, showing higher sensitivity but lower precision for de novo and inherited variants, with significant background noise in controls.

This study identifies twelve genetic loci associated with human blood plasma N-glycome composition through genome-wide association analysis, revealing both direct and indirect genetic influences on glycosylation.

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