ArticleNature communications2025
Copy number variants and the tangential expansion of the cerebral cortex.
Article in Nature communications, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed.
- Early‑life head circumference is causally associated with adult executive function through cortical surface area expansion.Developmental cognitive neuroscience · 2026Article
- The tangential growth of the human visual cortex and maternal smoking during pregnancy.Cerebral cortex (New York, N.Y. : 1991) · 2026Article
- Copy number variants reveal divergent genetic and diagnostic cortical signatures across psychiatric disorders.Research square · 2026Article
- Genetic insights on the mechanisms of human cortical folding.bioRxiv : the preprint server for biology · 2026Article
- Penetrance of Neurodevelopmental Copy Number Variants Is Associated With Variations in Cortical Morphology.Biological psychiatry. Cognitive neuroscience and neuroimaging · 2025Article
- Cortical differences across psychiatric disorders and associated common and rare genetic variants.medRxiv : the preprint server for health sciences · 2025Article
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Authors and funding
13 authors.
Funding
Abstract
The tangential expansion of the human cerebral cortex, indexed by its surface area (SA), occurs mainly during prenatal and early postnatal periods, and is influenced by genetic factors. Here we investigate the role of rare copy number variants (CNVs) in shaping SA, and the underlying mechanisms, by aggregating CNVs across the genome in community-based cohorts (N = 39,015). We reveal that genome-wide CNV deletions and duplications are associated with smaller SA. Subsequent analyses with gene expression in fetal cortex suggest that CNVs influence SA by interrupting the proliferation of neural progenitor cells during fetal development. Notably, the deletion of genes with strong (but not weak) coexpression with neural progenitor genes is associated with smaller SA. Follow up analyses reveal similar mechanisms at play in three clinical CNVs, 1q21.1, 16p11.2 and 22q11.2. Together, this study of rare CNVs expands our knowledge about genetic architecture of human cerebral cortex.
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