O'Roak, BJ et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature (2012).doi:10.1038/nature10989

Krumm N, Sudmant PH, Ko A, O'Roak BJ, Malig M, Coe BP, NHLBI Exome Sequencing Project, Quinlan AR, Nickerson DA and Eichler EE, 2012. Copy number variation detection and genotyping from exome sequence data. Genome Research, doi:10.1101/gr.138115.112