Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Effects of gene dosage and development on subcortical nuclei volumes in individuals with 22q11.2 copy number variations

2 Mar 2024

Abstract excerpt

The 22q11.2 locus contains genes critical for brain development. Reciprocal Copy Number Variations (CNVs) at this locus impact risk for neurodevelopmental and psychiatric disorders. Both 22q11.2 deletions (22qDel) and duplications (22qDup) are associated with autism, but 22qDel uniquely elevates schizophrenia risk. Understanding brain phenotypes associated with these highly penetrant CNVs can provide insights...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Congenital heart defects research
Share to Congenital Heart Disease Studies
Share to Coronary Artery Anomalies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 38431758
DOI: 10.1038/s41386-024-01832-3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Effects of gene dosage and development on subcortical nuclei volumes in individuals with 22q11.2 copy number variationsPMID 38431758Read ↗

Effects of Gene Dosage and Development on Subcortical Nuclei Volumes in Individuals with 22q11.2 Copy Number VariationsSemantic proximity Read ↗

Mapping 22q11.2 Gene Dosage Effects on Brain MorphometrySemantic proximity Read ↗

Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA Working Groups on CNVsSemantic proximity Read ↗

Longitudinal trajectories of cortical development in 22q11.2 copy number variants and typically developing controlsSemantic proximity Read ↗

Subcortical brain alterations in carriers of genomic copy number variantsSemantic proximity Read ↗

Genetic Architecture of Subcortical Brain Structures in Over 40,000 Individuals WorldwideSemantic proximity Read ↗

Convergent and Divergent Cerebellar Alterations in 22q11.2 Copy Number VariantsSemantic proximity Read ↗

Large-scale mapping of cortical alterations in 22q11.2 deletion syndrome: Convergence with idiopathic psychosis and effects of deletion sizeSemantic proximity Read ↗

1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humansSemantic proximity Read ↗

Assessment of Brain Morphological Abnormalities and Neuro-Developmental Risk Copy Number Variants in Individuals from the UK BiobankSemantic proximity Read ↗

Neuropsychiatric copy number variants exert shared effects on human brain structureSemantic proximity Read ↗

The genetic architecture of human amygdala volumes and their overlap with common brain disorders.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.