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Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair.

Reynolds JJ, Walker AK, Gilmore EC, Walsh CA, Caldecott KW. Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair. Nucleic Acids Res. 2012;40(14):6608-19. doi:10.1093/nar/gks318

Genome engineering using the CRISPR-Cas9 system.

Ran A, Hsu PD, Wright J, Agarwala V, Scott DA, Zhang F. Genome engineering using the CRISPR-Cas9 system. Nat Protoc. 2013;8(11):2281-308. doi:10.1038/nprot.2013.143

Reduced local mutation density in regulatory DNA of cancer genomes is linked to DNA repair.

Polak P, Lawrence MS, Haugen E, et al. Reduced local mutation density in regulatory DNA of cancer genomes is linked to DNA repair. Nat Biotechnol. 2014;32(1):71-5. doi:10.1038/nbt.2778

Systematic screening reveals a role for BRCA1 in the response to transcription-associated DNA damage.

Hill SJ, Rolland T, Adelmant G, et al. Systematic screening reveals a role for BRCA1 in the response to transcription-associated DNA damage. Genes Dev. 2014;28(17):1957-75. doi:10.1101/gad.241620.114

SIRT4 has tumor-suppressive activity and regulates the cellular metabolic response to DNA damage by inhibiting mitochondrial glutamine metabolism.

Jeong SM, Xiao C, Finley LWS, et al. SIRT4 has tumor-suppressive activity and regulates the cellular metabolic response to DNA damage by inhibiting mitochondrial glutamine metabolism. Cancer Cell. 2013;23(4):450-63. doi:10.1016/j.ccr.2013.02.024

BRCA1 recruitment to transcriptional pause sites is required for R-loop-driven DNA damage repair.

Hatchi E, Skourti-Stathaki K, Ventz S, et al. BRCA1 recruitment to transcriptional pause sites is required for R-loop-driven DNA damage repair. Mol Cell. 2015;57(4):636-47. doi:10.1016/j.molcel.2015.01.011

A genome-wide siRNA screen in mammalian cells for regulators of S6 phosphorylation.

Papageorgiou A, Rapley J, Mesirov JP, Tamayo P, Avruch J. A genome-wide siRNA screen in mammalian cells for regulators of S6 phosphorylation. PLoS One. 2015;10(3):e0116096. doi:10.1371/journal.pone.0116096

Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation.

Brand H, Collins RL, Hanscom C, et al. Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation. Am J Hum Genet. 2015;97(1):170-6. doi:10.1016/j.ajhg.2015.05.012

A Dominant Mutation in Human RAD51 Reveals Its Function in DNA Interstrand Crosslink Repair Independent of Homologous Recombination.

Wang AT, Kim T, Wagner JE, et al. A Dominant Mutation in Human RAD51 Reveals Its Function in DNA Interstrand Crosslink Repair Independent of Homologous Recombination. Mol Cell. 2015;59(3):478-90. doi:10.1016/j.molcel.2015.07.009

Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair.

Day FR, Ruth KS, Thompson DJ, et al. Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair. Nat Genet. 2015;47(11):1294-303. doi:10.1038/ng.3412