A common recessive NDD caused by RNU2-2 mutations disrupts brain development and opens paths for diagnosis and therapy.

Individuals that share the same deletion of a portion of chromosome 16 are at risk of developing neurodevelopmental disorders ...

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 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 identified a previously unknown neurodevelopmental disorder influenced by genetics – a discovery that promises new diagnoses for thousands of children and families worldwide. The ...

A major genetic study has uncovered a surprisingly common recessive cause of neurodevelopmental disorder, revealing how hidden changes in a small RNA gene can disrupt brain development and open new ...

Parents of kids with neurodevelopmental disorders were more likely to be diagnosed with cardiovascular disease. The hazard ratio was 1.27 for mothers and 1.20 for fathers. Risk rose with the number of ...

Pathologic changes of the X-chromosome gene for dystrophin give rise to Duchenne muscular dystrophy (DMD), and dystrophin -- which minimizes muscle fiber loss due to sarcolemma contraction damage when ...

Scientists at St. Jude Children's Research Hospital have found they can reverse the effects of HNRNPH2-related ...