Researchers have identified mutations in the non-coding gene RNU2-2 as a cause of a newly defined neurodevelopmental disorder ...

Building on their landmark discovery of RNU4-2 / ReNU syndrome in 2024 ... and a voice for all those affected by rare ...

A team of researchers has used advanced DNA sequencing to develop the most comprehensive atlas yet of genetic change through generations, laying the foundations for new insights into the roots of ...

A seminal study from researchers at the Icahn School of Medicine at Mount Sinai and their collaborators in the United Kingdom ...

S cientists might have succeeded in sequencing the entire human genome, but that doesn’t mean they aren’t still learning new ...

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 ...

Innovative genetic testing methods are reshaping reproductive health, offering early detection of genetic conditions and ...

Rady study uses PacBio long-read sequencing for RFX3 variant in adolescent patient with autism, showcasing clinical genomics ...