Convergence and divergence of rare genetic disorders on brain phenotypes: a review
Importance Rare genetic disorders modulating gene expression—as exemplified by gene
dosage disorders (GDDs)—represent a collectively common set of high-risk factors for …
dosage disorders (GDDs)—represent a collectively common set of high-risk factors for …
[HTML][HTML] Lessons learned from neuroimaging studies of copy number variants: a systematic review
Pathogenic copy number variants (CNVs) and aneuploidies alter gene dosage and are
associated with neurodevelopmental psychiatric disorders such as autism spectrum disorder …
associated with neurodevelopmental psychiatric disorders such as autism spectrum disorder …
Rare CNVs and phenome-wide profiling highlight brain structural divergence and phenotypical convergence
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 …
brain and behaviour. Previous reports of CNV pleiotropy imply that they converge on shared …
Pervasive alterations of intra-axonal volume and network organization in young children with a 16p11. 2 deletion
Abstract Reciprocal Copy Number Variants (CNVs) at the 16p11. 2 locus confer high risk for
autism spectrum disorder (ASD) and other neurodevelopmental disorders (NDDs) …
autism spectrum disorder (ASD) and other neurodevelopmental disorders (NDDs) …
Subcortical brain alterations in carriers of genomic copy number variants
Objective: Copy number variants (CNVs) are well-known genetic pleiotropic risk factors for
multiple neurodevelopmental and psychiatric disorders (NPDs), including autism (ASD) and …
multiple neurodevelopmental and psychiatric disorders (NPDs), including autism (ASD) and …
Genetic heterogeneity shapes brain connectivity in psychiatry
Background Polygenicity and genetic heterogeneity pose great challenges for studying
psychiatric conditions. Genetically informed approaches have been implemented in …
psychiatric conditions. Genetically informed approaches have been implemented in …
Language profiles of school-aged children with 22q11. 2 copy number variants
J Verbesselt, CB Solot, E Van Den Heuvel, TB Crowley… - Genes, 2023 - mdpi.com
Although it is known that copy number variants (CNVs) on chromosome 22, such as 22q11.
2 deletion (22q11. 2DS) and 22q11. 2 duplication (22q11. 2Dup) syndromes, are associated …
2 deletion (22q11. 2DS) and 22q11. 2 duplication (22q11. 2Dup) syndromes, are associated …
Increased prevalence of rare copy number variants in treatment-resistant psychosis
Background It remains unknown why~ 30% of patients with psychotic disorders fail to
respond to treatment. Previous genomic investigations of treatment-resistant psychosis have …
respond to treatment. Previous genomic investigations of treatment-resistant psychosis have …
[HTML][HTML] Neuroimaging findings in neurodevelopmental copy number variants: identifying molecular pathways to convergent phenotypes
Genomic copy number variants (CNVs) are associated with a high risk of
neurodevelopmental disorders. A growing body of genetic studies suggests that these high …
neurodevelopmental disorders. A growing body of genetic studies suggests that these high …
Unraveling the link between CNVs, cognition and individual neuroimaging deviation scores from a population-based reference cohort
Copy number variations (CNVs) are genetic variants that can have a substantial influence
on neurodevelopment, neuropsychiatric traits and morphometric brain changes, yet their …
on neurodevelopment, neuropsychiatric traits and morphometric brain changes, yet their …