Carter SL, Cibulskis K, Helman E, et al. Absolute quantification of somatic DNA alterations in human cancer. Nat Biotechnol. 2012;30(5):413-21. doi:10.1038/nbt.2203
Lawrence MS, Stojanov P, Mermel CH, et al. Discovery and saturation analysis of cancer genes across 21 tumour types. Nature. 2014;505(7484):495-501. doi:10.1038/nature12912
Stachler MD, Taylor-Weiner A, Peng S, et al. Paired exome analysis of Barrett’s esophagus and adenocarcinoma. Nat Genet. 2015;47(9):1047-55. doi:10.1038/ng.3343
Bartoloni L, Blouin JL, Maiti AK, et al. Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia. Genomics. 2001;72(1):21-33. doi:10.1006/geno.2000.6462
Wagle N, Berger MF, Davis MJ, et al. High-throughput detection of actionable genomic alterations in clinical tumor samples by targeted, massively parallel sequencing. Cancer Discov. 2012;2(1):82-93. doi:10.1158/2159-8290.CD-11-0184
Ojesina AI, Lichtenstein L, Freeman SS, et al. Landscape of genomic alterations in cervical carcinomas. Nature. 2014;506(7488):371-5. doi:10.1038/nature12881
Chan K, Roberts SA, Klimczak LJ, et al. An APOBEC3A hypermutation signature is distinguishable from the signature of background mutagenesis by APOBEC3B in human cancers. Nat Genet. 2015;47(9):1067-72. doi:10.1038/ng.3378
Bulman MP, Kusumi K, Frayling TM, et al. Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis. Nat Genet. 2000;24(4):438-41. doi:10.1038/74307
Berger MF, Hodis E, Heffernan TP, et al. Melanoma genome sequencing reveals frequent PREX2 mutations. Nature. 2012;485(7399):502-6. doi:10.1038/nature11071
Macedo DB, Abreu AP, Reis ACS, et al. Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3. J Clin Endocrinol Metab. 2014;99(6):E1097-103. doi:10.1210/jc.2013-3126