Harmful spontaneous mutations may account for up to half the cases of non-inherited schizophrenia.

By comparing the DNA of thousands of children who have developmental disabilities to that of controls, researchers have identified numerous mutations likely to contribute to disease.

The first study to sequence more than 100 genes on the X chromosome in people with autism or schizophrenia has turned up some promising leads.

Sequencing an individual’s entire genome may be the key to tailoring treatments for heterogeneous disorders, suggests a study published 15 June in Science Translational Medicine.

Researchers have upended a central tenet of biology by showing that there are more than 10,000 sites in the human genome where RNA sequences do not match the DNA sequences from which they are transcribed. The findings were published 19 May in Science.

Similarities between us and our closest ape relatives — chimpanzees and bonobos — have shaped our understanding of what it means to be human. The latest surprise is Teco, a young bonobo who shows behaviors that look suspiciously similar to those associated with autism.

Rare mutations with strong effects play a key role in autism and schizophrenia, according to a study published in February in PLoS Genetics. The study identifies rare harmful mutations in three candidate genes that are more common in individuals with one of the disorders than in controls.

Researchers have extracted and sequenced DNA from 52 postmortem brains from the Autism Tissue Program, providing a resource to study mutations and gene expression differences in the brains of people with the disorder.

Researchers have identified nearly 1,500 proteins present in the postsynaptic density — a complex collection of proteins that enables quick and flexible signaling across the brain. The results were published 14 January in Nature Neuroscience.

Rare mutations in TSGA14, a component of the centrosome — which is required for the generation of new neurons — may be associated with autism, according to a study published in January in the American Journal of Medical Genetics.