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

Adding genetic testing to the evaluation of pediatric patients with neurodevelopmental disorders (NDD) resulted in more individualized care, including changes in medication, referrals to clinical ...

Researchers at the Icahn School of Medicine at Mount Sinai in New York have identified and described a previously unknown recessive neurodevelopmental disorder (NDD) that appears to be the most ...

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

For decades, the study of genetic disease was focused on genes that code for protein. But scientists have now identified a novel neurodevelopmental disorder that is caused by mutations in a gene that ...

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 have found that motor delay and low muscle tone were common signs of an underlying genetic diagnosis in children with neurodevelopment disorders. In a new study, UCLA Health researchers ...

Including genetic testing in evaluations for children with autism, developmental delay and other neurodevelopmental disorders often leads to major changes in care, researchers say. In a study looking ...

CDKL5, one of the five members of the CDKL family of genes, is important for proper neurodevelopment and associated with seizures. However, the role the other four members of this family play in ...

A genetic diagnostic method using a small sample of skin from the upper arm could identify rare neurodevelopmental disorders in a non-invasive way, according to researchers. A genetic diagnostic ...

Three studies published in Nature Genetics look at the identification of a common recessive neurodevelopmental disorder (NDD).