Toka O, Tank J, Schächterle C, et al. Clinical effects of phosphodiesterase 3A mutations in inherited hypertension with brachydactyly. Hypertension. 2015;66(4):800-8. doi:10.1161/HYPERTENSIONAHA.115.06000
Conrad DF, Keebler JEM, DePristo MA, et al. Variation in genome-wide mutation rates within and between human families. Nat Genet. 2011;43(7):712-4. doi:10.1038/ng.862
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
Ordulu Z, Wong KE, Currall BB, et al. Describing sequencing results of structural chromosome rearrangements with a suggested next-generation cytogenetic nomenclature. Am J Hum Genet. 2014;94(5):695-709. doi:10.1016/j.ajhg.2014.03.020
Ilkovski B, Pagnamenta AT, O’Grady GL, et al. Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies. Hum Mol Genet. 2015;24(21):6146-59. doi:10.1093/hmg/ddv331
Lohr JG, Stojanov P, Lawrence MS, et al. Discovery and prioritization of somatic mutations in diffuse large B-cell lymphoma (DLBCL) by whole-exome sequencing. Proc Natl Acad Sci U S A. 2012;109(10):3879-84. doi:10.1073/pnas.1121343109
Banerji S, Cibulskis K, Rangel-Escareño C, et al. Sequence analysis of mutations and translocations across breast cancer subtypes. Nature. 2012;486(7403):405-9. doi:10.1038/nature11154
Wilkerson MD, Cabanski CR, Sun W, et al. Integrated RNA and DNA sequencing improves mutation detection in low purity tumors. Nucleic Acids Res. 2014;42(13):e107. doi:10.1093/nar/gku489
Van Allen EM, Miao D, Schilling B, et al. Genomic correlates of response to CTLA-4 blockade in metastatic melanoma. Science. 2015;350(6257):207-11. doi:10.1126/science.aad0095
Musunuru K, Pirruccello JP, Do R, et al. Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia. N Engl J Med. 2010;363(23):2220-7. doi:10.1056/NEJMoa1002926