Of the thousands of DNA variants linked to autism, those that evolved later are the most likely to be harmful, according to a study published 28 November in Nature.

SFARI director Gerald Fischbach comments on the year’s most notable papers.

New work suggests that the skin, a common source for deriving induced pluripotent stem cells, is a genetic mosaic. What does this mean for stem cell research? Are there implications for the human brain?

Chromosomal microarray is more sensitive than the current gold-standard method for detecting genetic abnormalities in a fetus. But the technology isn’t yet ready for use in all pregnant women.

Researchers are digging into the myriad causes of autism to refine its definition and find elusive biological signatures.

Some of the genetic variability seen in stem cells derived from skin arises from differences in the skin cells themselves, according to a study published 18 November in Nature. The findings have implications for both stem cell research and our understanding of human biology.

Watch the complete replay of Stephan Sanders’ webinar on exome sequencing and autism risk genes. Submit your own follow-up questions.

A new candidate gene for autism, CHD8, may account for up to 0.4 percent of cases of the disorder, according to research published today in Science. CHD8 is one of six genes identified that together may contribute to one percent of autism cases.

Contradicting a popular hypothesis in autism, a new study from Australia has found no connection between autism and bacteria in the gut. The analysis, published 20 September in the journal Autism Research, reports that the gastrointestinal systems of children with autism harbor the same bacteria as those of their typically developing siblings.

A genetic panel intended to predict the risk of developing autism debuted for clinical use in April, while another is in commercial development and a third was published in Molecular Psychiatry in September. But some experts are concerned, saying the tests are based on preliminary scientific evidence.