期刊
NATURE NEUROSCIENCE
卷 19, 期 9, 页码 1194-1196出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/nn.4352
关键词
-
资金
- Netherlands Organization for Scientific Research [912-12-109, 916-14-043, SH-271-13, 907-00-365]
- European Research Council (ERC Starting Grant) [DENOVO 281964]
To identify candidate genes for intellectual disability, we performed a meta-analysis on 2,637 de novo mutations, identified from the exomes of 2,104 patient-parent trios. Statistical analyses identified 10 new candidate ID genes: DLG4, PPM1D, RAC1, SMAD6, SON, SOX5, SYNCRIP, TCF20, TLK2 and TRIP12. In addition, we show that these genes are intolerant to nonsynonymous variation and that mutations in these genes are associated with specific clinical ID phenotypes.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据