The Simons Simplex Collection: a resource for identification of autism genetic risk factors

Neuron. 2010 Oct 21;68(2):192-5. doi: 10.1016/j.neuron.2010.10.006.


In an effort to identify de novo genetic variants that contribute to the overall risk of autism, the Simons Foundation Autism Research Initiative (SFARI) has gathered a unique sample called the Simons Simplex Collection (SSC). More than 2000 families have been evaluated to date. On average, probands in the current sample exhibit moderate to severe autistic symptoms with relatively little intellectual disability. An interactive database has been created to facilitate correlations between clinical, genetic, and neurobiological data.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Autistic Disorder / etiology*
  • Autistic Disorder / genetics*
  • Autistic Disorder / physiopathology
  • Data Collection*
  • Family Health
  • Female
  • Humans
  • Information Dissemination*
  • Male
  • Phenotype
  • Reproducibility of Results
  • Risk Factors