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. 2020 Apr 27;10:7046. doi: 10.1038/s41598-020-63928-2

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© The Author(s) 2020

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Functions of the top 12 over-represented genes with damaging DNVs. Review of the published literature for the identified top 12 enriched genes achieving statistical significance after correction for multiple comparisons revealed that 11 contributed to neurogenesis and one, CHD4, contributed to dendritic plasticity and synaptogenesis. Of the 11 contributing to neurogenesis, four genes, ADNP, DYRKIA, NOTCH1 and PTPN11, also contributed to dendritic plasticity and synaptogenesis. One, SMAD2, also subserved dendritic plasticity, and a single gene, KMT2A contributed to both neurogenesis and synaptogenesis. Five of the top genes were chromatin modifiers.