NeurosciencebioRxivPreprint
Pathogenic variants associated with speech/cognitive delay and seizures affect genes with expression biases in excitatory neurons and microglia in developing human cortex
Jeffrey B. Russ, Alexa C. Stone, Kayli Maney…·Jennifer L. Cohen
The paper identifies cell-specific gene expression biases in excitatory neurons and microglia for pathogenic variants linked to speech/cognitive delay and seizures using single-nucleus RNA-seq data.