Autism genetics: opportunities and challenges for clinical translation-Reference-Cited by-同舟云学术

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Autism genetics: opportunities and challenges for clinical translation

Published:2017-03-06 Issue:6 Volume:18 Page:362-376
ISSN:1471-0056
Container-title:Nature Reviews Genetics
language:en
Short-container-title:Nat Rev Genet

Author:

Vorstman Jacob A. S.,Parr Jeremy R.,Moreno-De-Luca Daniel,Anney Richard J. L.,Nurnberger Jr John I.,Hallmayer Joachim F.

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

http://www.nature.com/articles/nrg.2017.4.pdf

Reference177 articles.

1. de la Torre-Ubieta, L., Won, H., Stein, J. L. & Geschwind, D. H. Advancing the understanding of autism disease mechanisms through genetics. Nat. Med. 22, 345–361 (2016). This state-of-the-art review of genetic findings in autism is integrated with results from mouse and human in vitro models. These findings indicate neurobiological mechanisms in ASDs, and in turn these provide plausible avenues for developing better treatment strategies.

2. D'Gama, A. M. et al. Targeted DNA sequencing from autism spectrum disorder brains implicates multiple genetic mechanisms. Neuron 88, 910–917 (2015).

3. Ronemus, M., Iossifov, I., Levy, D. & Wigler, M. The role of de novo mutations in the genetics of autism spectrum disorders. Nat. Rev. Genet. 15, 133–141 (2014).

4. Buxbaum, J. D. Multiple rare variants in the etiology of autism spectrum disorders. Dialogues Clin. Neurosci. 11, 35–43 (2009).

5. Sanders, S. J. et al. Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci. Neuron 87, 1215–1233 (2015). This paper combines information from both structural (CNV) and sequence (SNV) findings to increase the power to discover additional genes associated with ASDs.

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