As treatments for some autism-linked genetic conditions inch closer to the clinic, researchers are talking more urgently about screening all newborns for such conditions.

Mosaic mutations, which affect only some of the body’s cells, play a small but meaningful role in autism. Though they are difficult to study, researchers are working to master their complexity.

The more scientists dig into DNA, the more intricate its contribution to autism seems to be. Here, we unravel the complex genetics of autism.

A novel method to evaluate the strength of the evidence linking autism to specific genes could reveal which ones are most useful to screen for.

People with fragile X syndrome in Colombia are diagnosed at age 27, on average, according to the first study to assess diagnosis in the country. By comparison, the average age of fragile X diagnosis in the United States is younger than 4.

People with mutations in distant chromosomal regions often share a range of autism traits, even if they do not meet the diagnostic threshold for autism.

Mutations in genes that encode a histone, which gives structure to chromosomes, can lead to developmental delay and congenital anomalies.

A new technique for masking portions of raw genomic data increases shareability without sacrificing privacy.

Gene therapies and the factors influencing autism traits top Spectrum’s list of the 10 most notable research findings we covered in 2020.

Genetic sequences from nearly 53,000 people with autism, developmental delay or intellectual disability reveal strong ties to 98 genes.