The genetic architecture of autism spectrum disorder (ASD) is itself a diverse allelic
spectrum that consists of rare de novo or inherited variants in hundreds of genes and …

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

Several molecular and phenotypic algorithms exist that establish genotype–phenotype
correlations, including facial recognition tools. However, no unified framework that …

Intellectual disability (ID) is the leading socio-economic problem of health care, but
compared to autism and schizophrenia, it has received very little public attention. Important …

Copy number variations have been frequently associated with developmental delay,
intellectual disability and autism spectrum disorders. MECP2 duplication syndrome is one of …

Two severe, progressive neurological disorders characterized by intellectual disability,
autism, and developmental regression, Rett syndrome and MECP2 duplication syndrome …

In this review, we detail the history, molecular diagnosis, epidemiology, and clinical features
of the MECP2 duplication syndrome, including considerations for the care of patients with …

Neurodevelopmental disorders (NDDs) are characterized by aberrant and delayed early-life
development of the brain, leading to deficits in language, cognition, motor behaviour and …

Twin and family studies in autistic disorders (AD) have elucidated a high heritability of AD. In
this literature review, we will present an overview on molecular genetic studies in AD and …

Abstract Methyl CpG binding protein-2 (MeCP2) is an essential epigenetic regulator in
human brain development. Rett syndrome, the primary disorder caused by mutations in the …