Global developmental delay and intellectual disability are relatively common pediatric
conditions. This report describes the recommended clinical genetics diagnostic approach …

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 childhood neurodevelopmental disorder with a strong genetic component, yet
the identification of autism susceptibility loci remains elusive. We investigated 180 autism …

Intellectual disability (ID), also referred to as mental retardation (MR), is frequently the result
of genetic mutation. Where ID is present together with additional clinical symptoms or …

BACKGROUND: Multiple lines of evidence indicate a strong genetic contribution to autism
spectrum disorders (ASDs). Current guidelines for clinical genetic testing recommend a G …

Evidence Report: Genetic and metabolic testing on children with global developmental delay
[RETIRED] Page 1 Evidence Report: Genetic and metabolic testing on children with global …

Array-based comparative genomic hybridization is being increasingly used in patients with
learning disability (mental retardation) and congenital anomalies. In this article, we update …

Anomalies of chromosome number and structure are considered to be the most frequent
cause of unexplained, non-syndromic developmental delay and mental retardation …

Copy‐number variations (CNV s) are a common cause of intellectual disability and/or
multiple congenital anomalies (ID/MCA). However, the clinical interpretation of CNV s …

Quantitative differences in gene expression emerge as a significant source of variation in
natural populations, representing an important substrate for evolution and accounting for a …