The role of de novo mutations in the genetics of autism spectrum disorders

@article{Ronemus2014TheRO,
  title={The role of de novo mutations in the genetics of autism spectrum disorders},
  author={Michael Ronemus and Ivan Iossifov and Dan Levy and Michael Wigler},
  journal={Nature Reviews Genetics},
  year={2014},
  volume={15},
  pages={133-141}
}
The identification of the genetic components of autism spectrum disorders (ASDs) has advanced rapidly in recent years, particularly with the demonstration of de novo mutations as an important source of causality. We review these developments in light of genetic models for ASDs. We consider the number of genetic loci that underlie ASDs and the relative contributions from different mutational classes, and we discuss possible mechanisms by which these mutations might lead to dysfunction. We update… 
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