• Menachem Fromer, Jennifer L. Moran, Kimberly Chambert, Eric Banks, Sarah E. Bergen, Douglas M. Ruderfer, Robert E. Handsaker, Steven A. McCarroll, Michael C. O'Donovan, Michael J. Owen, George Kirov, Patrick F. Sullivan, Christina M. Hultman, Pamela Sklar, and Shaun M. Purcell. Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth. American Journal of Human Genetics, 91:597-607, Oct 2012.


• Christopher S. Poultney, Arthur P. Goldberg, Elodie Drapeau, Yan Kou, Hala Harony-Nicolas, Yuji Kajiwara, Silvia De Rubeis, Simon Durand, Christine Stevens, Karola Rehnstrom, Aarno Palotie, Mark J. Daly, Avi Ma'ayan, Menachem Fromer, and Joseph D. Buxbaum. Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder. American Journal of Human Genetics, 93(4):607-619, 2013.


• Menachem Fromer and Shaun M. Purcell. Using XHMM software to detect copy number variation in whole-exome sequencing data. In Current Protocols in Human Genetics. John Wiley and Sons, Inc., 2014.