Despite evidence that deleterious variants in the same genes are implicated across multiple
neurodevelopmental and neuropsychiatric disorders, there has been considerable interest …

Copy number variants (CNVs) are deletions and duplications of DNA sequence. The most
frequently studied CNVs, which are described in this review, are recurrent CNVs that occur …

Rare copy-number variants (rCNVs) include deletions and duplications that occur
infrequently in the global human population and can confer substantial risk for disease. In …

The evolution of autism diagnosis, from its discovery to its current delineation using
standardized instruments, has been paralleled by a steady increase in its prevalence and …

Importance Recurrent copy number variants (rCNVs) have been associated with increased
risk of psychiatric disorders in case-control studies, but their population-level impact is …

Diagnostic criteria used in autism research have undergone a shift towards the inclusion of a
larger population, paralleled by increasing, but variable, estimates of autism prevalence …

Genomic copy number variants (CNVs) are routinely identified and reported back to patients
with neuropsychiatric disorders, but their quantitative effects on essential traits such as …

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

We assessed the relationship of gene copy number variation (CNV) in mental health/
neurodevelopmental traits and diagnoses, physical health and cognition in a community …

The current “autism spectrum” DSM 5 diagnostic criteria and autism standardized diagnostic
instruments promote considerable heterogeneity or clinical indecision and may be …