Samantha L. Kirkham

The paper identifies somatic genomic alterations in neurons from CTE patients, finding patterns similar to Alzheimer's disease and suggesting mechanisms beyond repetitive head impacts.

The paper examines somatic mutations in neurons across tau pathologic states in Alzheimer's disease and finds increased mutation burden and specific mutational signatures in AD neurons.

The paper detects and classifies copy number variants in exome data from 6,633 families, identifying causal CNVs in 173 families and improving classification standards.