A genetic diagnosis of primary cardiomyopathies can be a long-unmet need in patients with
complex phenotypes. We investigated a three-generation family with cardiomyopathy and …

Clinical diagnosis of syndromes benefits strongly from objective facial phenotyping. This
study investigates facial dysmorphism of genetic syndromes by building and investigating a …

Facial recognition technology (FRT) has been adopted as a precision medicine tool. The
medical genetics field highlights both the clinical potential and privacy risks of this …

Skin is the calling card of humanity—the body's first line of defense against external threats
and a major part of a person's identity. Diseases of the skin are common and a leading …

The RASopathies are a group of syndromes caused by mutations in genes encoding
proteins in the RAS/mitogen-activated protein kinase (MAPK) signaling pathway that affect …