Researchers have developed an artificial intelligence (AI) approach that accelerates the identification of genes that contribute to neurodevelopmental conditions such as autism spectrum disorder, ...

Researchers identified biallelic variants in RNU2-2 as the cause of a recessive neurodevelopmental disorder marked by ...

A seminal study has uncovered a new genetic cause of neurodevelopmental disorders (NDDs). The discovery offers both closure and hope to potentially thousands of families worldwide who have long been ...

Researchers at the Icahn School of Medicine at Mount Sinai in New York have identified and described a previously unknown ...

Mutations in the CASK gene, which encodes a multidomain scaffolding protein critical for neuronal development and synaptic organisation, have been increasingly implicated in a broad spectrum of ...

Researchers from Children's Hospital of Philadelphia (CHOP) have identified a novel gene associated with neurodevelopmental disorders and epilepsy. The study, published in the American Journal of ...

Rett syndrome is a neurodevelopmental disorder that primarily affects girls, most of whom have mutations in the transcription regulatory gene MECP2. However, mutations in MECP2 also have been ...