Hamish S. Scott

The paper evaluates incomplete penetrance in 4,325 rare disease families, finding 1.6% of diagnosed cases involve inherited variants from unaffected parents and showing divergent transcriptional effects in CHD8-related cases.

This study shows that circular RNAs accumulate in aged human placental tissue and in stillbirth cases, causing DNA damage and cellular senescence, and suggests they could be used for stillbirth risk screening.

The paper develops an automated tool for reanalyzing genomic data in rare disease cohorts, showing improved diagnostic yields through iterative reanalysis.

The paper develops and validates SMA Finder, a tool to diagnose spinal muscular atrophy in genome, exome, and panel sequencing data, identifying known and novel cases with high accuracy.

This study examines clonal hematopoiesis risk in individuals with germline ANKRD26 or ETV6 mutations, finding that ANKRD26 carriers have elevated risk while ETV6 carriers do not.