Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.

By Stephan J Sanders, A. Ercan-Sencicek, Vanessa Hus, Rui Luo, M. Murtha, D. Moreno-De-Luca, S. Chu, M. Moreau, Abha R. Gupta, Susanne A. Thomson and 57 more. Neuron, 2011

1,286 citations recorded by the source corpus.

Subfields: Developmental Neuroscience, Genetics, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/22557421fba8b3e9878a9c6ec56205b5c0803079

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Citations in the corpus

Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism (2013, neutral): “…to reproducible results (State and Levitt, 2011), the identification of the important contribution of rare de novo mutations (Jamain et al., 2003; Sanders et al., 2011; Sebat et al., 2007) combined with high-throughput sequencing technology has recently led to the systematic discovery of de novo…”
De novo mutations revealed by whole-exome sequencing are strongly associated with autism (2012, background): “The rate of de novo SNVs is shown in 15 probands with large multigenic CNVs (≥16 RefSeq genes) and 179 probands without such CNVs (demonstrated previously by genotype).(6) In the probands with large multigenic CNVs a trend toward less non-synonymous de novo SNVs are seen compared to probands without”
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations (2012, methodology): “For each gene, we extracted (1) d = the number of differences between chimpanzee and human and (2) n = the number of bases aligned.”
Sex/Gender Differences and Autism: Setting the Scene for Future Research (2015, background): “On the other hand, studies of population genetics 21 and genomics 22-26 have revisited the sex/gender-differential liability hypotheses using well-powered datasets and advanced technology.”
De Novo Gene Disruptions in Children on the Autistic Spectrum (2012, background): “Adding the 6% differential for large-scale de novo copy number mutation previously observed (Levy et al., 2011; Sanders et al., 2011) to the 10% differential for LGDs, we reach a total differential of 16% between affected children and siblings.”