De novo mutations revealed by whole-exome sequencing are strongly associated with autism-Reference-Cited by-同舟云学术

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

Published:2012-04-04 Issue:7397 Volume:485 Page:237-241
ISSN:0028-0836
Container-title:Nature
language:en
Short-container-title:Nature

Author:

Sanders Stephan J.,Murtha Michael T.,Gupta Abha R.,Murdoch John D.,Raubeson Melanie J.,Willsey A. Jeremy,Ercan-Sencicek A. Gulhan,DiLullo Nicholas M.,Parikshak Neelroop N.,Stein Jason L.,Walker Michael F.,Ober Gordon T.,Teran Nicole A.,Song Youeun,El-Fishawy Paul,Murtha Ryan C.,Choi Murim,Overton John D.,Bjornson Robert D.,Carriero Nicholas J.,Meyer Kyle A.,Bilguvar Kaya,Mane Shrikant M.,Šestan Nenad,Lifton Richard P.,Günel Murat,Roeder Kathryn,Geschwind Daniel H.,Devlin Bernie,State Matthew W.

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/nature10945.pdf

Reference24 articles.

1. Sebat, J. et al. Strong association of de novo copy number mutations with autism. Science 316, 445–449 (2007)

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

3. Sanders, S. J. et al. Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron 70, 863–885 (2011)

4. O'Roak, B. J. et al. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nature Genet. 43, 585–589 (2011)

5. Fischbach, G. D. & Lord, C. The Simons Simplex Collection: a resource for identification of autism genetic risk factors. Neuron 68, 192–195 (2010)

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