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Updated: Jun 7, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
The Simons Simplex Collection: a resource for identification of autism genetic risk factors
Gerald D Fischbach1, Catherine Lord
1Simons Foundation Autism Research Initiative, New York, NY 10010, USA. gf@simonsfoundation.org
Abstract:
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.
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