Large mosaic copy number variations confer autism risk
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Neuroscience
Link
http://www.nature.com/articles/s41593-020-00766-5.pdf
Reference65 articles.
1. Gaugler, T. et al. Most genetic risk for autism resides with common variation. Nat. Genet. 46, 881–885 (2014).
2. De Rubeis, S. et al. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature 515, 209–215 (2014).
3. Turner, T. N. et al. Genomic patterns of de novo mutation in simplex autism. Cell 171, 710–722 (2017).
4. Sebat, J. et al. Strong association of de novo copy number mutations with autism. Science 316, 445–449 (2007).
5. Sanders, S. J. et al. Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron 70, 863–885 (2011).
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