Autism spectrum disorder (ASD) is often grouped with other brain-related phenotypes into a
broader category of neurodevelopmental disorders (NDDs). In clinical practice, providers …

DNA sequencing-based studies of neurodevelopmental disorders (NDDs) have identified a
wide range of genetic determinants. However, a comprehensive analysis of these data, in …

Chromodomain-helicase-DNA-binding protein 8 (CHD8) has been identified as one of the
genes with the strongest association with autism. The CHD8 protein is a transcriptional …

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with a male-to-
female prevalence of 4: 1. However, the genetic mechanisms underlying this gender …

The SLC25 carrier family consists of 53 transporters that shuttle nutrients and co-factors
across mitochondrial membranes. The family is highly redundant and their transport …

With expanding applications of next-generation sequencing in medical genetics, increasing
computational methods are being developed to predict the pathogenicity of missense …

A growing number of genomic tools and databases were developed to facilitate the
interpretation of genomic variants, particularly in coding regions. However, these tools are …

Genetic investigations of people with impaired development of spoken language provide
windows into key aspects of human biology. Over 15 years after FOXP2 was identified, most …

With the socioeconomic development and the acceleration of the ageing process of the
population, the incidence rates of mental disorders and psycho-behavioural problems have …

Synaptic cytoskeleton dysfunction represents a common pathogenesis in
neurodevelopmental disorders, such as autism spectrum disorder (ASD). The …