Sort   by:  
 Page size 
UnknownA neurogenetic model for the study of schizophrenia spectrum disorders: the International 22q11.2 Deletion Syndrome Brain Behavior Consortium.
Rare copy number variants contribute significantly to the risk for schizophrenia, with the 22q11.2 locus consistently implicated. Individuals with the 22q11.2 deletion syndrome (22q11DS) have an estimated 25-fold increased risk for schizophrenia spectrum disorders, compared to individuals in the gen...
S-EPMC5935262 | biostudies-literature
UnknownGene copy number variation and pediatric mental health/neurodevelopment in a general population.
We assessed the relationship of gene copy number variation (CNV) in mental health/neurodevelopmental traits and diagnoses, physical health and cognition in a community sample of 7100 unrelated children and youth of European or East Asian ancestry (Spit for Science). Clinically significant or suscept...
S-EPMC10360394 | biostudies-literature
UnknownVariance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects.
The 22q11.2 deletion syndrome is caused by non-allelic homologous recombination events during meiosis between low copy repeats (LCR22) termed A, B, C, and D. Most patients have a typical LCR22A-D (AD) deletion of 3 million base pairs (Mb). In this report, we evaluated IQ scores in 1,478 subjects wit...
S-EPMC6209529 | biostudies-literature
UnknownAttention deficit hyperactivity disorder symptoms as antecedents of later psychotic outcomes in 22q11.2 deletion syndrome.
Individuals with 22q11.2 Deletion Syndrome (22q11.2DS) are at substantially heightened risk for psychosis. Thus, prevention and early intervention strategies that target the antecedents of psychosis in this high-risk group are a clinical priority. Attention Deficit Hyperactivity Disorder (ADHD) is o...
S-EPMC6406019 | biostudies-literature
UnknownClinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels.

Purpose

Neurodevelopmental disorders (NDDs), such as intellectual disability (ID) and autism spectrum disorder (ASD), exhibit genetic and phenotypic heterogeneity, making them difficult to differentiate without a molecular diagnosis. The Clinical Genome Resource Intellectual Disability/Autis...
S-EPMC10200330 | biostudies-literature
UnknownAltered white matter microstructure in 22q11.2 deletion syndrome: a multisite diffusion tensor imaging study.
22q11.2 deletion syndrome (22q11DS)-a neurodevelopmental condition caused by a hemizygous deletion on chromosome 22-is associated with an elevated risk of psychosis and other developmental brain disorders. Prior single-site diffusion magnetic resonance imaging (dMRI) studies have reported altered wh...
S-EPMC6986984 | biostudies-literature
UnknownA large data resource of genomic copy number variation across neurodevelopmental disorders.
Copy number variations (CNVs) are implicated across many neurodevelopmental disorders (NDDs) and contribute to their shared genetic etiology. Multiple studies have attempted to identify shared etiology among NDDs, but this is the first genome-wide CNV analysis across autism spectrum disorder (ASD), ...
S-EPMC6779875 | biostudies-literature
UnknownChromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS.
Congenital heart disease (CHD) affecting the conotruncal region of the heart, occurs in 40-50% of patients with 22q11.2 deletion syndrome (22q11.2DS). This syndrome is a rare disorder with relative genetic homogeneity that can facilitate identification of genetic modifiers. Haploinsufficiency of TBX...
S-EPMC10354062 | biostudies-literature
UnknownPolygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders.
Autism spectrum disorder (ASD) risk is influenced by common polygenic and de novo variation. We aimed to clarify the influence of polygenic risk for ASD and to identify subgroups of ASD cases, including those with strongly acting de novo variants, in which polygenic risk is relevant. Using a novel a...
S-EPMC5552240 | biostudies-literature
UnknownGenetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion.
Schizophrenia occurs in about one in four individuals with 22q11.2 deletion syndrome (22q11.2DS). The aim of this International Brain and Behavior 22q11.2DS Consortium (IBBC) study was to identify genetic factors that contribute to schizophrenia, in addition to the ~20-fold increased risk conveyed b...
S-EPMC7396297 | biostudies-literature
Sort   by:  
 Page size