Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models
Recurrent and reciprocal copy number variations (CNVs) pose a substantial risk for neurodevelopmental and neuropsychiatric disorders. One example of such CNVs is recurrent deletion and duplication of an ~ 743 kb genomic segment of chromosome 16p11.2, which consists of an ~ 593 kb unique segment encompassing 27 protein-coding genes and an ~ 150 kb flanking [...]