Norrie disease is an extremely rare, inherited genetic disorder that causes vision loss and was first described in Denmark in ...

Scientists have identified novel genetic interactions that may contribute to congenital heart disease (CHD), a common birth defect.

Medically reviewed by Smita Patel, DO Duchenne muscular dystrophy (DMD) is a rare neurological condition that causes severe muscle weakness and intellectual disability. DMD is an inherited (passed ...

Roche's innovative sequencing by expansion (SBX) technology represents a leap forward in next-generation sequencing (NGS), ...