Robert Lesurf

This study identifies rare tandem repeat expansions (TREs) in TOF patients, showing their enrichment in regulatory regions and association with DNA methylation and transcriptional changes.

This study maps epigenomic heterogeneity in prostate cancer by analyzing 3,001 methylomes and identifies four subtypes with distinct clinical and molecular features.

The paper develops a heart-specific model to predict splice-disrupting variants in childhood heart disease, identifying variants missed by existing tools and showing higher accuracy in cardiac genes.

This study identifies genetic differences between pediatric and adult cardiomyopathy, finding more constrained variants in childhood cases and female patients.

This study uses whole-genome sequencing to identify regulatory and novel genic variants contributing to childhood cardiomyopathy.

This study examines telomere length in prostate cancer, finding associations with genomic instability and clinical outcomes.

This study introduces a machine learning method to infer mutation signatures from both single nucleotide and structural variations in DNA repair deficient cancers, identifying new age-related and HRD-associated signatures in breast and ovarian cancers.