Colleen E. D’Arcy

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.

Dysmorphic neuron density underlies intrinsic epileptogenicity of the centre of cortical tubers

This study shows that resecting only the center of cortical tubers in TSC patients eliminates seizures without functional deficits, as the center has higher dysmorphic neuron density.