ArticleNature communications2020
Mutations associated with neuropsychiatric conditions delineate functional brain connectivity dimensions contributing to autism and schizophrenia.
Article in Nature communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 1 of them a synthesis that pooled it.
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Who cites it
40 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Genetic and phenotypic similarity across major psychiatric disorders: a systematic review and quantitative assessment.Translational psychiatry · 2024Pooled it
- Shared genetic architecture of schizophrenia and Alzheimer's disease and related dementias implicates 16p11.2 and lifespan brain vulnerability.Molecular psychiatry · 2026Article
- Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing.medRxiv : the preprint server for health sciences · 2026Article
- Heterogeneity-Aware, Multiscale Annotation of Shared and Specific Neurobiological Signatures among Major Neurodevelopmental Disorders.Research (Washington, D.C.) · 2026Article
- Penetrance of Neurodevelopmental Copy Number Variants Is Associated With Variations in Cortical Morphology.Biological psychiatry. Cognitive neuroscience and neuroimaging · 2025Article
- An ace in the hole? Opportunities and limits of using mice to understand schizophrenia neurobiology.Molecular psychiatry · 2025Review
- 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
- Exploring dopamine as the master regulator of brain circuitry and mental health genome.Gene & protein in disease · 2025Article
- Genetic modulation of brain dynamics in neurodevelopmental disorders: the impact of copy number variations on resting-state EEG.Translational psychiatry · 2025Article
- Synaptic-dependent developmental dysconnectivity in 22q11.2 deletion syndrome.Science advances · 2025Article
- Differential links in 16p11.2 deletion carriers reveal aberrant connections between large-scale networks.Cerebral cortex (New York, N.Y. : 1991) · 2025Article
- High-precision machine learning identifies a reproducible functional connectivity signature of autism spectrum diagnosis in a subset of individuals.GigaScience · 2025Article
- 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
- The pleiotropic spectrum of proximal 16p11.2 CNVs.American journal of human genetics · 2024Review
- Relationship between Circadian System Status, Child-Pugh Score, and Clinical Outcome in Cirrhotic Patients on Waiting Lists for Liver Transplantation.Journal of clinical medicine · 2024Article
- Synaptic-dependent developmental dysconnectivity in 22q11.2 deletion syndrome.bioRxiv : the preprint server for biology · 2024Article
- Using rare genetic mutations to revisit structural brain asymmetry.Nature communications · 2024Article
- Pervasive alterations of intra-axonal volume and network organization in young children with a 16p11.2 deletion.Translational psychiatry · 2024Article
- The Variegation of Human Brain Vulnerability to Rare Genetic Disorders and Convergence With Behaviorally Defined Disorders.Biological psychiatry · 2024Article
- Delineating a Pathway for the Discovery of Functional Connectome Biomarkers of Autism.Advances in neurobiology · 2024Review
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22 authors.
Funding
Abstract
16p11.2 and 22q11.2 Copy Number Variants (CNVs) confer high risk for Autism Spectrum Disorder (ASD), schizophrenia (SZ), and Attention-Deficit-Hyperactivity-Disorder (ADHD), but their impact on functional connectivity (FC) remains unclear. Here we report an analysis of resting-state FC using magnetic resonance imaging data from 101 CNV carriers, 755 individuals with idiopathic ASD, SZ, or ADHD and 1,072 controls. We characterize CNV FC-signatures and use them to identify dimensions contributing to complex idiopathic conditions. CNVs have large mirror effects on FC at the global and regional level. Thalamus, somatomotor, and posterior insula regions play a critical role in dysconnectivity shared across deletions, duplications, idiopathic ASD, SZ but not ADHD. Individuals with higher similarity to deletion FC-signatures exhibit worse cognitive and behavioral symptoms. Deletion similarities identified at the connectivity level could be related to the redundant associations observed genome-wide between gene expression spatial patterns and FC-signatures. Results may explain why many CNVs affect a similar range of neuropsychiatric symptoms.
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