Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder-Reference-Cited by-同舟云学术

Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder

Published:2017-07-17 Issue:9 Volume:20 Page:1217-1224
ISSN:1097-6256
Container-title:Nature Neuroscience
language:en
Short-container-title:Nat Neurosci

Author:

Lim Elaine T^ORCID, ,Uddin Mohammed,De Rubeis Silvia,Chan Yingleong,Kamumbu Anne S,Zhang Xiaochang,D'Gama Alissa M,Kim Sonia N,Hill Robert Sean,Goldberg Arthur P,Poultney Christopher,Minshew Nancy J,Kushima Itaru,Aleksic Branko^ORCID,Ozaki Norio,Parellada Mara,Arango Celso,Penzol Maria J,Carracedo Angel,Kolevzon Alexander,Hultman Christina M,Weiss Lauren A,Fromer Menachem,Chiocchetti Andreas G,Freitag Christine M,Church George M,Scherer Stephen W,Buxbaum Joseph D,Walsh Christopher A^ORCID

Publisher

Springer Science and Business Media LLC

Subject

General Neuroscience

Link

http://www.nature.com/articles/nn.4598.pdf

Reference50 articles.

1. Gaugler, T. et al. Most genetic risk for autism resides with common variation. Nat. Genet. 46, 881–885 (2014).

2. Sanders, S.J. et al. Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci. Neuron 87, 1215–1233 (2015).

3. Pinto, D. et al. Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Am. J. Hum. Genet. 94, 677–694 (2014).

4. De Rubeis, S. et al. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature 515, 209–215 (2014).

5. Iossifov, I. et al. The contribution of de novo coding mutations to autism spectrum disorder. Nature 515, 216–221 (2014).

Cited by 224 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. CC2D1A causes ciliopathy, intellectual disability, heterotaxy, renal dysplasia, and abnormal CSF flow;Life Science Alliance;2024-08-21

3. Low-level brain somatic mutations in exonic regions are collectively implicated in autism with germline mutations in autism risk genes;Experimental & Molecular Medicine;2024-08-01

4. A rare genetic Schuurs-Hoeijmakers syndrome (PACS1 syndrome);Epilepsy and paroxysmal conditions;2024-06-30

5. Ring finger protein 216 loss‐of‐function induces white matter hyperintensities by inhibiting oligodendroglia proliferation;Cell Biochemistry and Function;2024-06