Brian H. Chhouk

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.

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.

This study uses snRNA-seq and a new method called GO-TEN to analyze mosaic genetic variants in focal cortical dysplasia, revealing cell-autonomous and non-cell-autonomous transcriptional changes associated with epilepsy.

The paper identifies somatic driver mutations in microglia of Alzheimer's disease brains, showing increased clonal expansion and inflammatory signatures.

The paper identifies rare somatic mutations in sporadic ALS and FTD cases, suggesting they contribute to disease and widespread neurodegeneration.

The paper uses somatic mutations to analyze lineage divergence in human cortical regions, finding late divergence of neuronal cell types and regional inhomogeneities in progenitor proliferation.