Shared functional defect in IP3R-mediated calcium signaling in diverse monogenic autism syndromes

Author:

Schmunk G,Boubion B J,Smith I F,Parker I,Gargus J J

Publisher

Springer Science and Business Media LLC

Subject

Biological Psychiatry,Cellular and Molecular Neuroscience,Psychiatry and Mental health

Reference75 articles.

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2. Girirajan S, Rosenfeld Ja, Coe BP, Parikh S, Friedman N, Goldstein A et al. Phenotypic heterogeneity of genomic disorders and rare copy-number variants. N Engl J Med 2012; 367: 1321–1331.

3. Betancur C . Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting. Brain Res 2011; 1380: 42–77.

4. Hallmayer J, Cleveland S, Torres A, Phillips J, Cohen B, Torigoe T et al. Genetic heritability and shared environmental factors among twin pairs with autism. Arch Gen Psychiatry 2011; 68: 1095–1102.

5. Cross-Disorder Group of the Psychiatric Genomics Consortium. Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. Lancet 2013; 6736: 1–9.

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