Michael J. McConnell

This study assesses somatic mosaicism in human frontal cortex using multi-platform sequencing, showing improved variant detection with haplotype-resolved assemblies and single-neuron sequencing.

The paper shows that PV-INs have unique metabolic specializations lost after TBI, which can be rescued by 2-deoxyglucose, and identifies PGC-1α and lncRNAs as key factors in this dysfunction.

The paper identifies and validates copy number variants in single human neurons using a new method, revealing nonrandom CNV locations and complex karyotypes in a subset of neurons.

The paper evaluates brain somatic mosaicism in the adult human to identify rules governing cellular distribution during embryogenesis.

This paper develops a single cell sequencing pipeline for Plasmodium falciparum, improving genome amplification and copy number variation detection in single cells.

The paper investigates CNV neuron frequency in aged human neocortex, finding that it varies widely among individuals and is anti-correlated with age.