Common genetic variants contribute to risk of rare severe neurodevelopmental disorders-Reference-Cited by-同舟云学术

Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

Published:2018-09-26 Issue:7726 Volume:562 Page:268-271
ISSN:0028-0836
Container-title:Nature
language:en
Short-container-title:Nature

Author:

Niemi Mari E. K.,Martin Hilary C.,Rice Daniel L.,Gallone Giuseppe,Gordon Scott,Kelemen Martin,McAloney Kerrie,McRae Jeremy,Radford Elizabeth J.,Yu Sui,Gecz Jozef,Martin Nicholas G.,Wright Caroline F.,Fitzpatrick David R.,Firth Helen V.,Hurles Matthew E.,Barrett Jeffrey C.

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/s41586-018-0566-4.pdf

Reference46 articles.

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3. Singh, T. et al. Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders. Nat. Neurosci. 19, 571–577 (2016).

4. Balasubramanian, M. et al. Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature. J. Med. Genet. 54, 537–543 (2017).

5. Minikel, E. V. et al. Quantifying prion disease penetrance using large population control cohorts. Sci. Transl. Med. 8, 322ra9 (2016).

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