Sophie Hambleton

The paper identifies associations between macrophage enhancers and cardiovascular disease variants using epigenomic data from immune cells.

The paper reanalyzes exome sequencing data from rare disease cases to identify previously undetected copy number variants, resulting in diagnoses for 51 families and partial explanations for 34 individuals.

The paper identifies 88 novel rare disease-gene associations using a burden analysis framework on whole genome sequencing data from the 100,000 Genomes Project, with potential clinical impact for undiagnosed cases.

This study identifies TMEM63B variants in patients with developmental and epileptic encephalopathy and neurodegeneration, showing altered cation currents and hematological abnormalities.

The paper identifies H3K4me3 broad domains formed by super-enhancer translocations in B-cell and T-cell malignancies, linking them to oncogene activation.