A new era in the discovery of de novo mutations underlying human genetic disease.
作者信息
Ku Chee-Seng, Vasiliou Vasilis, Cooper David N
出版信息
Hum Genomics. 2012 Dec 12;6(1):27. doi: 10.1186/1479-7364-6-27.
Abstract
摘要
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Revising the human mutation rate: implications for understanding human evolution.修订人类突变率：对理解人类进化的启示。
Nat Rev Genet. 2012 Oct;13(10):745-53. doi: 10.1038/nrg3295. Epub 2012 Sep 11.
2
Rate of de novo mutations and the importance of father's age to disease risk.新突变率和父亲年龄对疾病风险的重要性。
Nature. 2012 Aug 23;488(7412):471-5. doi: 10.1038/nature11396.
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Patterns and rates of exonic de novo mutations in autism spectrum disorders.自闭症谱系障碍中基因外显子新生突变的模式和速率。
Nature. 2012 Apr 4;485(7397):242-5. doi: 10.1038/nature11011.
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Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.散发性自闭症外显子组揭示了从头突变的高度相互关联的蛋白质网络。
Nature. 2012 Apr 4;485(7397):246-50. doi: 10.1038/nature10989.
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De novo mutations revealed by whole-exome sequencing are strongly associated with autism.全外显子组测序揭示的新生突变与自闭症强烈相关。
Nature. 2012 Apr 4;485(7397):237-41. doi: 10.1038/nature10945.
6
CNVs: harbingers of a rare variant revolution in psychiatric genetics.CNVs：精神遗传学中罕见变异革命的先兆。
Cell. 2012 Mar 16;148(6):1223-41. doi: 10.1016/j.cell.2012.02.039.
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De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.肌动蛋白基因 ACTB 和 ACTG1 中的新生突变导致 Baraitser-Winter 综合征。
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Am J Hum Genet. 2012 Jan 13;90(1):110-8. doi: 10.1016/j.ajhg.2011.11.018. Epub 2011 Dec 15.
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De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia.从头 CNV 分析提示突触后信号复合物的特定异常与精神分裂症的发病机制有关。
Mol Psychiatry. 2012 Feb;17(2):142-53. doi: 10.1038/mp.2011.154. Epub 2011 Nov 15.
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