Fischback & Lord – The Simons Simplex Collection – Neuron Paper – Oct. 2010

Neuron. 2010 Oct 21;68(2):192-5.

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

Fischbach GD, Lord C.

Source

Simons 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.

Copyright © 2010 Elsevier Inc. All rights reserved.

PMID: 20955926 [PubMed – indexed for MEDLINE]

Neuron (2010)_Fischbach & Lord

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