Diane D. Shao

The paper investigates somatic copy number variants (CNVs) in human neurons across development, finding that perinatal elimination of neurons with aberrant genomes reduces CNV prevalence and targets dosage-sensitive genes.

The paper identifies a shared TOP1-mediated mutagenic mechanism in ALS, FTD, and AD through single-cell genomic analysis and experimental validation.

This study benchmarks six duplex sequencing technologies to evaluate their performance in detecting somatic mutations across different genomic contexts and tissue types.

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.

HiScanner detects high-resolution copy number alterations in single cells, outperforming existing methods and revealing distinct CNA patterns in neurons and oligodendrocytes.

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 uses spatial single-cell analysis to uncover molecular and structural development of human fetal cortex, revealing early layer and area specification.

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.