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CC2D1A regulates human intellectual and social function as well as NF-κB signaling homeostasis.

Manzini C, Xiong L, Shaheen R, et al. CC2D1A regulates human intellectual and social function as well as NF-κB signaling homeostasis. Cell Rep. 2014;8(3):647-55. doi:10.1016/j.celrep.2014.06.039

Describing the genetic architecture of epilepsy through heritability analysis.

Speed D, O’Brien TJ, Palotie A, et al. Describing the genetic architecture of epilepsy through heritability analysis. Brain. 2014;137(Pt 10):2680-9. doi:10.1093/brain/awu206

Autism spectrum disorder severity reflects the average contribution of de novo and familial influences.

Robinson EB, Samocha KE, Kosmicki JA, et al. Autism spectrum disorder severity reflects the average contribution of de novo and familial influences. Proc Natl Acad Sci U S A. 2014;111(42):15161-5. doi:10.1073/pnas.1409204111

Letm1, the mitochondrial Ca2+/H+ antiporter, is essential for normal glucose metabolism and alters brain function in Wolf-Hirschhorn syndrome.

Jiang D, Zhao L, Clish CB, Clapham DE. Letm1, the mitochondrial Ca2+/H+ antiporter, is essential for normal glucose metabolism and alters brain function in Wolf-Hirschhorn syndrome. Proc Natl Acad Sci U S A. 2013;110(24):E2249-54. doi:10.1073/pnas.1308558110

Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR.

Tai DJC, Ragavendran A, Manavalan P, et al. Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR. Nat Neurosci. 2016;19(3):517-22. doi:10.1038/nn.4235