Cell-specific expression biases in human cortex of genes associated with neurodevelopmental disorders.

Subjects with pathogenic variants in excitatory neuron-enriched genes demonstrate two distinct neurodevelopmental phenotypes Given the highly significant and reproducible expression bias of genes associated with speech/cognitive delay and seizures in excitatory cortical neurons in both snRNAseq datasets (Fig. 1 ), we next investigated the relationship between these genesets, and observed two subsets of genes: (1) those associated with speech/cognitive delay and seizures, versus (2) those associated only with speech/cognitive delay without seizures.

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