Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families.
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This study examined how having an extra or missing copy of the 16p11.2 region changes the activity of genes in the brain and blood cells, finding that the affected genes connect to well-known autism-related pathways like brain cell communication and brain development, which may help families understand why 16p11.2 changes can lead to autism and other related conditions.