It’s no easy feat to whittle down the list of the most influential autism papers to a mere 10. So please consider this but a taste of the burgeoning field, presented in chronological order and based on suggestions from many researchers. SFARI director Louis Reichardt elaborates on the list in his year-end column, noting that it is “dominated by genetic studies” that will transform autism research.
Three massive sequencing studies in the field of schizophrenia offer clues about autism and highlight the need for large study samples when searching for rare mutations and common variants.
Fromer M. et al. Nature 506, 179-184 (2014) PubMed
Purcell S.M. et al. Nature 506, 185-190 (2014) PubMed
Schizophrenia Working Group of the Psychiatric Genomics Consortium. Nature511,421-427 (2014) PubMed
A string of studies published earlier this year suggest that the causes and manifestations of autism differ in girls and boys.
Jacquemont S. et al. Am. J. Hum. Genet. 94, 415-425 (2014) PubMed
Frazier T.W. et al. J. Am. Acad. Child Adolesc. Psychiatry53, 329-340 (2014) PubMed
Small swaths of what look like immature neurons bespeckle the brains of some children with autism, according to a study of postmortem brains.
Stoner R. et al. N. Engl. J. Med.370, 1209-1219 (2014) PubMed
Autism-linked mutations are six times more likely to fall in genetic regions that are critical for brain function than elsewhere in the genome.
Uddin M. et al. Nat. Genet. 46,742-747 (2014) PubMed
A gene that regulates the structure of DNA, called CHD8, may be the closest thing to an autism gene so far.
Bernier R. et al. Cell 158, 263-276 (2014) PubMed
Mutations that are present in 5 percent or more of the population may add up to trigger autism.
Gaugler T. et al. Nat. Genet.46, 881-885 (2014) PubMed
The pruning process that eliminates unnecessary brain connections in the first years of life may go awry in autism.
Tang G. et al. Neuron 83, 1131-1143 (2014) PubMed
The interaction-based therapy, which is delivered by parents at home, improved behavior and language skills in a small pilot study.
Rogers S.J. et al. J. Autism Dev. Disord. 44,2981-2995 (2014) PubMed
Having a serious infection during pregnancy raises the risk of having a child with autism by 37 percent, according to a study of more than 2.3 million people.
Lee B.K. et al. Brain Behav. Immun. Epub ahead of print (2014) PubMed
A mammoth effort to analyze the sequences of more than 20,000 people unearthed the longest and most robust list of autism genes yet.
Iossifov I. et al. Nature515, 216-221 (2014) PubMed
De Rubeis S. et al. Nature515, 209-215 (2014) PubMed