2008

The 1999 Rett syndrome paper
Huda Zoghbi and her colleagues painstakingly sequenced the candidate genes for Rett syndrome, culminating in the 1999 Nature Genetics report that pinpointed six de novo mutations in the MeCP2 gene as the cause of the disorder.
1977 paper on the first autism twin study
Autism is caused by poor parenting, particularly by 'frigid' mothers who reject their children. Such a statement would seem bizarre today. But 30 years ago parents, especially mothers, were blamed for their childrenʼs autism. But then in 1977, one study, published in the Journal of Child Psychology and Psychiatry, single-handedly turned the field around to recognize the importance of genetics.
1985 paper on the theory of mind
In 1985, Simon Baron-Cohen, Alan Leslie and Uta Frith reported for the first time that children with autism systematically fail the false belief task.
Papers that defined diagnostic tools for autism research
It took 50 years for scientists to develop instruments reliable enough to be considered the gold standards for diagnosing autism. Autism has always been around, but it was not until the mid-1940s that Leo Kanner in the United States and Hans Asperger in Austria, both physicians, independently described children with what we now recognize as autism.