Polak P, Kim J, Braunstein LZ, et al. A mutational signature reveals alterations underlying deficient homologous recombination repair in breast cancer. Nat Genet. 2017;49(10):1476-1486. doi:10.1038/ng.3934.
AlDubayan SH, Giannakis M, Moore ND, et al. Inherited DNA-Repair Defects in Colorectal Cancer. Am J Hum Genet. 2018;102(3):401-414. doi:10.1016/j.ajhg.2018.01.018.
Lessel D, Gehbauer C, Bramswig NC, et al. BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells. Brain. 2018;141(8):2299-2311. doi:10.1093/brain/awy173.
Yurgelun MB, Chittenden AB, Morales-Oyarvide V, et al. Germline cancer susceptibility gene variants, somatic second hits, and survival outcomes in patients with resected pancreatic cancer. Genet Med. 2019;21(1):213-223. doi:10.1038/s41436-018-0009-5.
Artomov M, Stratigos AJ, Kim I, et al. Rare Variant, Gene-Based Association Study of Hereditary Melanoma Using Whole-Exome Sequencing. J Natl Cancer Inst. 2017;109(12). doi:10.1093/jnci/djx083.
Waszak SM, Northcott PA, Buchhalter I, et al. Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort. Lancet Oncol. 2018;19(6):785-798. doi:10.1016/S1470-2045(18)30242-0.