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

By G. Fischbach, Catherine Lord. Neuron, 2010

738 citations recorded by the source corpus.

Subfields: Cognitive Neuroscience, Genetics

View Paper: https://www.semanticscholar.org/paper/02ba7f97b712677213205a7d2970e6bcb78ca1fd

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Citations in the corpus

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands (2017, neutral): “Written informed consent for all participants was provided by the Simons Foundation Autism Research Initiative 45 .”
Disruptive CHD8 mutations define a subtype of autism early in development (2014, methodology): “CHD8 has been associated with rare cases in childhood disorders; two sporadic truncating mutations in autism patients were identified by O’Roak et al. (2012b) from exome sequencing of 209 proband-parent trios from the Simons Simplex Collection (SSC; Fischbach and Lord, 2010).”
De Novo Gene Disruptions in Children on the Autistic Spectrum (2012, methodology): “Families with single probands, usually with unaffected siblings, were preferentially recruited, and families with two probands were specifically excluded (Fischbach and Lord, 2010).”
Rare de novo and transmitted copy-number variation in autistic spectrum disorders. (2011, neutral): “Families with single high-functioning probands, usually with unaffected siblings, are preferentially recruited, and families with two probands are specifically excluded (Fischbach and Lord, 2010).”
Big data approaches to decomposing heterogeneity across the autism spectrum (2018, methodology): “There are some current resources that are immediately available to meet such needs (e.g., the ABIDE datasets76, the National Database for Autism Research (NDAR)77, the Simons Simplex Collection78, SPARK79, the Healthy Brain Network80, and see81, 82) and we would expect much more in the coming years.”
Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism (2013, neutral): “…Lu,13 Xuming Xu,3,4 Ying Zhu,3,4 Shrikant M. Mane,14 Ed S. Lein,8 Liping Wei,5,15 James P. Noonan,1,4 Kathryn Roeder,11,13 Bernie Devlin,12,* Nenad Sestan,3,4,* and Matthew W. State1,2,6,9,16,* 1Department of Genetics, Yale School of Medicine, New Haven, CT 06510, USA 2Department of Psychiatry,…”
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci (2015, background): “The Simons Simplex Collection (SSC), a cohort of simplex ASD families designed to facilitate the discovery de novo variation (Fischbach and Lord, 2010), has played a central role in this progress.”
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. (2011, methodology): “Our data shows that large de novo CNVs confer substantial risk for ASD in the SSC, but they are only modestly correlated with lower IQ and largely independent of ASD severity.”