Duncan Sproul

This study examines how mutations in the PWWP domain of DNMT3A affect chromatin recruitment through different mechanisms, leading to distinct disease phenotypes.

This study shows that DNMT1 loss causes hypomethylation in late replicating domains but also leads to hypermethylation in some domains due to DNMT3A activity, altering chromatin states.

The paper functionally characterizes PRKN variants using a pooled assay, reclassifies variants of uncertain significance, and predicts Parkinson's disease age at onset.

This study shows that DNMT3B PWWP mutations cause hypermethylation of heterochromatin marked by H3K9me3, disrupting DNA methylation homeostasis and contributing to ICF syndrome, cancer, and aging.

The paper uses single-molecule long-read DNA methylation data to show that bulk-level metrics underestimate heterogeneity in the methylome, particularly in heterochromatic regions.

The paper shows that local CpG density influences age-related DNA methylation changes in humans by analyzing longitudinal methylation data and SNP data from 600 individuals.

This paper shows that a cluster mean-field model accurately predicts statistical properties of large-scale DNA methylation patterns and can infer model parameters from data.

The paper shows de novo DNA methyltransferases in colorectal cancer target H3K36me3-marked CpG islands, similar to normal tissues, rather than sequence-specific CpG islands.

This paper introduces DNAm GrimAge, an epigenetic clock that predicts mortality and is associated with multiple brain health measures in older adults.

The paper shows that age-related clonal haemopoiesis is linked to accelerated epigenetic age.