Altered synaptic structure and function is a major hallmark of fragile X syndrome (FXS),
autism spectrum disorders (ASDs), and other intellectual disabilities (IDs), which are …

Copy number variations (CNVs) of the human 16p11. 2 genetic locus are associated with a
range of neurodevelopmental disorders, including autism spectrum disorder, intellectual …

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by
heterogeneous cognitive, behavioral and communication impairments. Disruption of the gut …

Autism is traditionally diagnosed behaviorally but has a strong genetic basis. A genetics-first
approach could transform understanding and treatment of autism. However, isolating the …

Reciprocal deletion and duplication of the 16p11. 2 region is the most common copy number
variation (CNV) associated with autism spectrum disorders. We generated cortical organoids …

The 16p11. 2 BP4 and BP5 region, is a recurrent∼ 600 kb copy number variant (CNV), and
deletions are one of the most frequent etiologies of neurodevelopmental disorders and …

Background Using mouse genetic studies and systematic assessments of brain
neuroanatomical phenotypes, we set out to identify which of the 30 genes causes brain …

Neuroimaging genomic studies of autism spectrum disorder and schizophrenia have mainly
adopted a 'top-down'approach, beginning with the behavioural diagnosis, and moving down …

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 …

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 …