Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders

@article{Levy2011RareDN,
  title={Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders},
  author={Dan Levy and Michael Ronemus and Boris Yamrom and Yoon-ha Lee and Anthony Leotta and Jude Kendall and Steven Marks and B. Lakshmi and Deepa Pai and Kenny Q. Ye and Andreas Buja and Abba M. Krieger and Seungtai Yoon and Jennifer Troge and Linda Rodgers and Ivan Iossifov and Michael Wigler},
  journal={Neuron},
  year={2011},
  volume={70},
  pages={886-897}
}
To explore the genetic contribution to autistic spectrum disorders (ASDs), we have studied genomic copy-number variation in a large cohort of families with a single affected child and at least one unaffected sibling. We confirm a major contribution from de novo deletions and duplications but also find evidence of a role for inherited "ultrarare" duplications. Our results show that, relative to males, females have greater resistance to autism from genetic causes, which raises the question of the… 
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