ArticleTranslational psychiatry2021
Effects of eight neuropsychiatric copy number variants on human brain structure.
Article in Translational psychiatry, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed, 45 citations in OpenAlex.
- 5q31 duplications encompassing PURA are associated with a neurodevelopmental disorder.European journal of human genetics : EJHG · 2026Article
- Convergent and Divergent Cerebellar Alterations in 22q11.2 Copy Number Variants.Biological psychiatry global open science · 2026Article
- Review
- Copy number variants reveal divergent genetic and diagnostic cortical signatures across psychiatric disorders.Research square · 2026Article
- White matter microstructure differences between 15q11.2 copy number variation carriers and non-carriers in mid-to-late life.Translational psychiatry · 2026Article
- Genetic insights on the mechanisms of human cortical folding.bioRxiv : the preprint server for biology · 2026Article
- A pattern-learning algorithm associates copy number variations with brain structure and behavioural variables in an adolescent population cohort.Nature biomedical engineering · 2026Article
- Penetrance of Neurodevelopmental Copy Number Variants Is Associated With Variations in Cortical Morphology.Biological psychiatry. Cognitive neuroscience and neuroimaging · 2025Article
- Assessment of Brain Morphological Abnormalities and Neurodevelopmental Risk Copy Number Variants in Individuals from the UK Biobank.International journal of molecular sciences · 2025Article
- Psychiatric disorders converge on common pathways but diverge in cellular context, spatial distribution, and directionality of genetic effects.medRxiv : the preprint server for health sciences · 2025Article
- Developmental milestones and cognitive trajectories in school-aged children with 16p11.2 deletion.Journal of neurodevelopmental disorders · 2025Article
- Mapping Cerebellar Morphology in 15q11.2 CNV Carriers Using Normative Modeling.medRxiv : the preprint server for health sciences · 2025Article
- Cortical differences across psychiatric disorders and associated common and rare genetic variants.medRxiv : the preprint server for health sciences · 2025Article
- Reciprocal and non-reciprocal effects of clinically relevant SETBP1 protein dosage changes.Human molecular genetics · 2025Article
- Copy number variants and the tangential expansion of the cerebral cortex.Nature communications · 2025Article
- Molecular signatures of cortical expansion in the human foetal brain.Nature communications · 2024Article
- Language Profiles of School-Age Children With 16p11.2 Copy Number Variants in a Clinically Ascertained Cohort.Journal of speech, language, and hearing research : JSLHR · 2024Article
- Structural deviations of the posterior fossa and the cerebellum and their cognitive links in a neurodevelopmental deletion syndrome.Molecular psychiatry · 2024Article
- Motor difficulties in 16p11.2 copy number variation.Autism research : official journal of the International Society for Autism Research · 2024Article
- Using rare genetic mutations to revisit structural brain asymmetry.Nature communications · 2024Article
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Authors and funding
34 authors at 20 institutions in 10 countries.
Funding
Abstract
Many copy number variants (CNVs) confer risk for the same range of neurodevelopmental symptoms and psychiatric conditions including autism and schizophrenia. Yet, to date neuroimaging studies have typically been carried out one mutation at a time, showing that CNVs have large effects on brain anatomy. Here, we aimed to characterize and quantify the distinct brain morphometry effects and latent dimensions across 8 neuropsychiatric CNVs. We analyzed T1-weighted MRI data from clinically and non-clinically ascertained CNV carriers (deletion/duplication) at the 1q21.1 (n = 39/28), 16p11.2 (n = 87/78), 22q11.2 (n = 75/30), and 15q11.2 (n = 72/76) loci as well as 1296 non-carriers (controls). Case-control contrasts of all examined genomic loci demonstrated effects on brain anatomy, with deletions and duplications showing mirror effects at the global and regional levels. Although CNVs mainly showed distinct brain patterns, principal component analysis (PCA) loaded subsets of CNVs on two latent brain dimensions, which explained 32 and 29% of the variance of the 8 Cohen's d maps. The cingulate gyrus, insula, supplementary motor cortex, and cerebellum were identified by PCA and multi-view pattern learning as top regions contributing to latent dimension shared across subsets of CNVs. The large proportion of distinct CNV effects on brain morphology may explain the small neuroimaging effect sizes reported in polygenic psychiatric conditions. Nevertheless, latent gene brain morphology dimensions will help subgroup the rapidly expanding landscape of neuropsychiatric variants and dissect the heterogeneity of idiopathic conditions.
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