This year’s list of top papers highlights new dimensions in our understanding of autism genetics and hints at novel treatments.
Rare or common, inherited or spontaneous, mutations form the core of autism risk.
Carriers of fragile X premutations in Ricaurte, Colombia, have more medical problems than carriers living elsewhere — and discovering why might yield treatments for the syndrome.
The largest genetic analysis of postmortem brain tissue to date has yielded maps of when and where genes related to autism are turned on and off throughout life.
Whole-genome scans of nearly 8,000 people link autism to spontaneous mutations in the stretches of DNA that regulate genes.
Nearly one in four men who have a daughter with Rett syndrome carry mutations linked to the condition in some of their sperm.
Watch the complete replay of Patricia Braga describing studies of autism involving stem cells.
Some mutations that contribute to autism and arise spontaneously may be mistaken for inherited mutations.
A new resource details the protein-coding portions of the genomes of 36 popular mouse strains.
The autism gene TBR1 controls the expression of several other candidate genes that govern the architecture of the brain’s outer section.
A software tool finds possible functions for long RNA molecules that aren’t transcribed into proteins.