ScholarPeer’s latest research news and reporting from American Journal of Human Genetics. American Journal of Human Genetics is a peer-reviewed journal of the American Society of Human Genetics that publishes research across human genetics and genomics. Its studies investigate genetic variation, inherited disease, population genetics, genome biology, statistical and computational genetics, and gene regulation, advancing understanding of how genetic factors shape human biology, health, disease, and evolution.
Six children with developmental delay or autism carry the same rare change in a signaling gene. Expressed in fruit flies, the human variant switched on cell signaling without its usual trigger and disrupted neural development.