With the recent burst of technological developments in genomics, and the clinical
implementation of genome-wide assays, our understanding of the molecular basis of …

Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with
unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders …

Autism is a heterogeneous neurodevelopmental disorder of unknown aetiology that affects 1
in 100–150 individuals. Diagnosis is based on three categories of behavioural criteria …

There is increasing evidence that autism spectrum disorders (ASDs) can arise from rare
highly penetrant mutations and genomic imbalances. The rare nature of these variants, and …

During the last quarter of the twentieth century, our knowledge about human genetic
variation was limited mainly to the heterochromatin polymorphisms, large enough to be …

Copy number variation (CNV) is a source of genetic diversity in humans. Numerous CNVs
are being identified with various genome analysis platforms, including array comparative …

Autism is a heterogeneous syndrome defined by impairments in three core domains: social
interaction, language and range of interests. Recent work has led to the identification of …

Autism is an etiologically and clinically heterogeneous group of disorders, diagnosed solely
by the complex behavioral phenotype. On the basis of the high-heritability index, geneticists …

Syndromic autism spectrum disorders represent a group of childhood neurological
conditions, typically associated with chromosomal abnormalities or mutations in a single …

Background Autism spectrum disorder is a heritable developmental disorder in which
chromosomal abnormalities are thought to play a role. Methods As a first component of a …