Despite evidence that deleterious variants in the same genes are implicated across multiple
neurodevelopmental and neuropsychiatric disorders, there has been considerable interest …

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

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 …

CHD8, a major autism gene, functions in chromatin remodelling and has various roles
involving several biological pathways. Therefore, unsurprisingly, previous studies have …

Understanding rare genetic brain disorders with overlapping neurological and psychiatric
phenotypes is of increasing importance given the potential for developing disease models …

Epileptic encephalopathies (EE) are severe epilepsy syndromes characterized by multiple
seizure types, developmental delay and even regression. This class of disorders are …

Individuals with mutations in CHD8 present with gastrointestinal complaints, yet the
underlying mechanisms are understudied. Here, using a stable constitutive chd8 mutant …

CHD8 has been reported as an autism susceptibility/intellectual disability gene but
emerging evidence suggests that it additionally causes an overgrowth phenotype. This study …

Speech and language development are complex neurodevelopmental processes that are
incompletely understood, yet current evidence suggests that speech and language …

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition that affects
social interaction and behavior. Mutations in the gene encoding chromodomain helicase …