Samuel Gooley

Droplet Digital PCR as a First-Line Detection Tool in the Genetic Diagnosis of Vascular Anomalies

The paper evaluates ddPCR as a primary diagnostic tool for vascular anomalies, finding it detects 51% of pathogenic variants in a cohort, with an overall diagnostic yield of 75% when combined with NGS.

Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasia

This study uses deep sequencing to identify genetic variants in focal cortical dysplasias, finding pathogenic variants in 71% of cases and highlighting the importance of somatic variants in FCDIIb.

Activating Ras-MAPK pathway variants drive hippocampal clonal competition in human epilepsy

This study identifies somatic Ras-MAPK pathway variants in hippocampal tissue from patients with drug-resistant epilepsy, showing their association with clonal competition and worse surgical outcomes.