Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Psychiatry and Mental health,Molecular Biology
Link
http://www.nature.com/articles/mp20155.pdf
Reference36 articles.
1. Lai MC, Lombardo MV, Baron-Cohen S . Autism. Lancet 2014; 383: 896–910.
2. Rosti RO, Sadek AA, Vaux KK, Gleeson JG . The genetic landscape of autism spectrum disorders. Dev Med Child Neurol 2014; 56: 12–18.
3. Bernier R, Golzio C, Xiong B, Stessman HA, Coe BP, Penn O et al. Disruptive CHD8 mutations define a subtype of autism early in development. Cell 2014; 158: 263–276.
4. Helsmoortel C, Vulto-van Silfhout AT, Coe BP, Vandeweyer G, Rooms L, van den Ende J et al. A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. Nat Genet 2014; 46: 380–384.
5. O'Roak BJ, Deriziotis P, Lee C, Vives L, Schwartz JJ, Girirajan S et al. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet 2011; 43: 585–589.
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