Defects in genetic and developmental processes are thought to contribute susceptibility to
autism and schizophrenia. Presumably, owing to etiological complexity identifying …

Anatomical structures and mechanisms linking genes to neuropsychiatric disorders are not
deciphered. Reciprocal copy number variants at the 16p11. 2 BP4-BP5 locus offer a unique …

Objectives The frequency of abnormalities of 15q11-q13 and other possibly causal medical
disorders including karyotypic abnormalities was investigated in an unselected series of …

Recently discovered genome-wide rare copy number variants (CNVs) have unprecedented
levels of statistical association with many developmental neuropsychiatric disorders …

Autism is a pervasive developmental disorder with a strong genetic component. While
candidate regions of the genome have been identified, location of genes conferring …

BACKGROUND: Copy number variants (CNVs) associated with neuropsychiatric disorders
are increasingly being identified. While the initial reports were relatively specific, ie …

Recently, increasing numbers of rare pathogenic genetic variants have been identified that
are associated with variably elevated risks of a range of neurodevelopmental outcomes …

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 …

Evidence is rapidly accumulating that rare, recurrent copy number variants represent large
effect risk factors for neuropsychiatric disorders. 22q11. 2 deletion syndrome (22q11DS) …

Autism is a highly heritable neurodevelopmental disorder, and known genetic variants,
mostly rare, account only for a small proportion of cases. Here we report a genome-wide …