Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder-Reference-Cited by-同舟云学术

Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder

Published:2014-05-25 Issue:7 Volume:46 Page:742-747
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Uddin Mohammed,Tammimies Kristiina,Pellecchia Giovanna,Alipanahi Babak,Hu Pingzhao,Wang Zhuozhi,Pinto Dalila,Lau Lynette,Nalpathamkalam Thomas,Marshall Christian R,Blencowe Benjamin J,Frey Brendan J,Merico Daniele,Yuen Ryan K C,Scherer Stephen W

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.2980.pdf

Reference38 articles.

1. Devlin, B. & Scherer, S.W. Genetic architecture in autism spectrum disorder. Curr. Opin. Genet. Dev. 22, 229–237 (2012).

2. Neale, B.M. et al. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature 485, 242–245 (2012).

3. Pinto, D. et al. Functional impact of global rare copy number variation in autism spectrum disorders. Nature 466, 368–372 (2010).

4. Sanders, S.J. et al. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature 485, 237–241 (2012).

5. Betancur, C. Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting. Brain Res. 1380, 42–77 (2011).

Cited by 148 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Application of multiple mosaic callers improves post-zygotic mutation detection from exome sequencing data;Genetics in Medicine;2024-10

2. AIDA-1/ANKS1B Binds to the SynGAP Family RasGAPs with High Affinity and Specificity;Journal of Molecular Biology;2024-06

3. Horizon: CNV interpretation through rapid automated ACMG-aligned pathogenicity analysis;2024-06-01

4. Expanding deep phenotypic spectrum associated with atypical pathogenic structural variations overlapping 15q11–q13 imprinting region;Brain and Behavior;2024-04

5. Genetic Alterations in a Large Population of Italian Patients Affected by Neurodevelopmental Disorders;Genes;2024-03-28