Familial dilated cardiomyopathy is being increasingly recognized, but affected individuals <10 y are rarely identified. We describe the natural history of dilated cardiomyopathy and evaluate the mode ...

Researchers assessed the role of recessive genetic variants in developmental disorders, suggesting reanalysis of genetic data could improve understanding and diagnosis of conditions for millions of ...

Huntington’s disease is horrible. It is also odd. Illnesses caused by inherited aberrant genes are mostly what geneticists call “recessive”, meaning someone must receive defective versions of the gene ...

Recessive hearing loss can be treated with cochlear implants to bypass the problematic area in the ear, but the implants can’t correct the underlying biological cause of deafness. A team co-led by ...