Paez G, Jänne PA, Lee JC, et al. EGFR mutations in lung cancer: correlation with clinical response to gefitinib therapy. Science. 2004;304(5676):1497-500. doi:10.1126/science.1099314
Tabebordbar M, Zhu K, Cheng JKW, et al. In vivo gene editing in dystrophic mouse muscle and muscle stem cells. Science. 2016;351(6271):407-11. doi:10.1126/science.aad5177
Sankaran VG, Ghazvinian R, Do R, et al. Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. J Clin Invest. 2012;122(7):2439-43. doi:10.1172/JCI63597
Nelson CE, Hakim CH, Ousterout DG, et al. In vivo genome editing improves muscle function in a mouse model of Duchenne muscular dystrophy. Science. 2016;351(6271):403-7. doi:10.1126/science.aad5143
Ruderfer DM, Chambert K, Moran J, et al. Mosaic copy number variation in schizophrenia. Eur J Hum Genet. 2013;21(9):1007-11. doi:10.1038/ejhg.2012.287
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
Kiezun A, Pulit SL, Francioli LC, et al. Deleterious alleles in the human genome are on average younger than neutral alleles of the same frequency. PLoS Genet. 2013;9(2):e1003301. doi:10.1371/journal.pgen.1003301
Boettger LM, Salem RM, Handsaker RE, et al. Recurring exon deletions in the HP (haptoglobin) gene contribute to lower blood cholesterol levels. Nat Genet. 2016;48(4):359-66. doi:10.1038/ng.3510
Alexandrov LB, Nik-Zainal S, Wedge DC, et al. Signatures of mutational processes in human cancer. Nature. 2013;500(7463):415-21. doi:10.1038/nature12477
Wala J, Beroukhim R. CANCER. The oncogene makes its escape. Science. 2016;351(6280):1398-9. doi:10.1126/science.aaf5542