ArticleNature human behaviour2023
Rare CNVs and phenome-wide profiling highlight brain structural divergence and phenotypical convergence.
Article in Nature human behaviour, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 27 citations in OpenAlex.
- Genetic and phenotypic similarity across major psychiatric disorders: a systematic review and quantitative assessment.Translational psychiatry · 2024Pooled it
- What makes a lonely child: environmental, health, and multimodal neuroimaging correlates of prospective loneliness in the ABCD study.Journal of child psychology and psychiatry, and allied disciplines · 2026Article
- Parent-of-origin effects in Alzheimer's liability dissociate neurocognitive and cardiovascular traits in at-risk individuals.Cell reports. Medicine · 2026Article
- Genetically informed dissection of multimodal brain aging and ten major psychiatric disorders.Molecular psychiatry · 2026Article
- Individual-Level Associations of Cognition and Personality With Adolescent Mental Health Vary Across Brain and Environmental Profiles.bioRxiv : the preprint server for biology · 2026Article
- Comprehensive large-scale analyses reveal association between brain structure and cognitive ability during adolescence.Communications 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
- Latent brain subtypes of chronotype reveal unique behavioral and health profiles across population cohorts.Nature communications · 2025Article
- Association between Brain Structure and Cognitive Ability during Adolescence: Insights from a Comprehensive Large-Scale Analysis of 9 to 15 Year-Olds.bioRxiv : the preprint server for biology · 2025Article
- Assessment of Brain Morphological Abnormalities and Neurodevelopmental Risk Copy Number Variants in Individuals from the UK Biobank.International journal of molecular sciences · 2025Article
- Multimodal population study reveals the neurobiological underpinnings of chronotype.Nature human behaviour · 2025Article
- Cortical differences across psychiatric disorders and associated common and rare genetic variants.medRxiv : the preprint server for health sciences · 2025Article
- Copy number variants and the tangential expansion of the cerebral cortex.Nature communications · 2025Article
- The pleiotropic spectrum of proximal 16p11.2 CNVs.American journal of human genetics · 2024Review
- Using rare genetic mutations to revisit structural brain asymmetry.Nature communications · 2024Article
- Rare copy-number variants as modulators of common disease susceptibility.Genome medicine · 2024Article
- Article
Corrections and comments
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Authors and funding
32 authors at 10 institutions in 8 countries.
Funding
Abstract
Copy number variations (CNVs) are rare genomic deletions and duplications that can affect brain and behaviour. Previous reports of CNV pleiotropy imply that they converge on shared mechanisms at some level of pathway cascades, from genes to large-scale neural circuits to the phenome. However, existing studies have primarily examined single CNV loci in small clinical cohorts. It remains unknown, for example, how distinct CNVs escalate vulnerability for the same developmental and psychiatric disorders. Here we quantitatively dissect the associations between brain organization and behavioural differentiation across 8 key CNVs. In 534 CNV carriers, we explored CNV-specific brain morphology patterns. CNVs were characteristic of disparate morphological changes involving multiple large-scale networks. We extensively annotated these CNV-associated patterns with ~1,000 lifestyle indicators through the UK Biobank resource. The resulting phenotypic profiles largely overlap and have body-wide implications, including the cardiovascular, endocrine, skeletal and nervous systems. Our population-level investigation established brain structural divergences and phenotypical convergences of CNVs, with direct relevance to major brain disorders.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.