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
Sugathan A, Biagioli M, Golzio C, et al. CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors. Proc Natl Acad Sci U S A. 2014;111(42):E4468-77. doi:10.1073/pnas.1405266111
De Rubeis S, He X, Goldberg AP, et al. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature. 2014;515(7526):209-15. doi:10.1038/nature13772
Migliavacca E, Golzio C, Männik K, et al. A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology. Am J Hum Genet. 2015;96(5):784-96. doi:10.1016/j.ajhg.2015.04.002
Brand H, Collins RL, Hanscom C, et al. Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation. Am J Hum Genet. 2015;97(1):170-6. doi:10.1016/j.ajhg.2015.05.012