Gabriel S. Variation in the human genome and the inherited basis of common disease. Semin Oncol. 2006;33(6 Suppl 11):S46-9. doi:10.1053/j.seminoncol.2006.11.001
Kuntzen T, Timm J, Berical A, et al. Naturally occurring dominant resistance mutations to hepatitis C virus protease and polymerase inhibitors in treatment-naïve patients. Hepatology. 2008;48(6):1769-78. doi:10.1002/hep.22549
Neale BM, Kou Y, Liu L, et al. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature. 2012;485(7397):242-5. doi:10.1038/nature11011
Imielinski M, Berger AH, Hammerman PS, et al. Mapping the hallmarks of lung adenocarcinoma with massively parallel sequencing. Cell. 2012;150(6):1107-20. doi:10.1016/j.cell.2012.08.029
Van Allen EM, Wagle N, Levy MA. Clinical analysis and interpretation of cancer genome data. J Clin Oncol. 2013;31(15):1825-33. doi:10.1200/JCO.2013.48.7215
Tamborero D, Gonzalez-Perez A, Perez-Llamas C, et al. Comprehensive identification of mutational cancer driver genes across 12 tumor types. Sci Rep. 2013;3:2650. doi:10.1038/srep02650
Berger AH, Imielinski M, Duke F, et al. Oncogenic RIT1 mutations in lung adenocarcinoma. Oncogene. 2014;33(35):4418-23. doi:10.1038/onc.2013.581
Wang L, Shalek AK, Lawrence M, et al. Somatic mutation as a mechanism of Wnt/β-catenin pathway activation in CLL. Blood. 2014;124(7):1089-98. doi:10.1182/blood-2014-01-552067
Ahola S, Isohanni P, Euro L, et al. Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy. Neurology. 2014;83(8):743-51. doi:10.1212/WNL.0000000000000716
Crompton BD, Stewart C, Taylor-Weiner A, et al. The genomic landscape of pediatric Ewing sarcoma. Cancer Discov. 2014;4(11):1326-41. doi:10.1158/2159-8290.CD-13-1037