Cory D. Dunn

The paper examines how mutational bias, not selection, primarily determines the population frequency of mitochondrial DNA variants, including synonymous substitutions.

This study uses phylogenetic analysis and machine learning to predict the pathogenicity of human mtDNA variants, finding many previously uncharacterized variants are likely deleterious.

The paper identifies NEUROD2's role in terminal neuron localization during cortical development and reveals its regulation of the Reln gene.