Daniel A. Snellings

The paper identifies pervasive somatic NF1 mutations in oligodendrocyte precursors in NF-1 patients, showing clonal selection and spatial bias, and links CDKN2A loss to tumor progression.

The paper introduces Duplex-Multiome, a method to identify cell-type-specific somatic mutations in brain tissue, revealing age-related mutation patterns and developmental lineage relationships.

The paper identifies PIK3CA mutations in developmental venous anomalies (DVA) and CCM, showing DVA act as a genetic primer for CCM through shared mutations.

The paper identifies biallelic loss of ENG or ACVRL1 through somatic mutations in HHT-related telangiectasia, supporting a two-hit mechanism over haploinsufficiency.

The paper visualizes clonal expansion of mutant endothelial cells in cerebral cavernous malformations using a mouse model and fluorescent reporter.