Article
The Simons Simplex Collection: a resource for identification of autism genetic risk factors.
Neuron - 21 Oct 2010
Fischbach Gerald D, Lord Catherine
Abstract excerpt
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....
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