Collins RL, Brand H, Redin CE, et al. Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome. Genome Biol. 2017;18(1):36. doi:10.1186/s13059-017-1158-6.
Dong Z, Wang H, Chen H, et al. Identification of balanced chromosomal rearrangements previously unknown among participants in the 1000 Genomes Project: implications for interpretation of structural variation in genomes and the future of clinical cytogenetics. Genet Med. 2018;20(7):697-707. doi:10.1038/gim.2017.170.
Kidd JM, Cooper GM, Donahue WF, et al. Mapping and sequencing of structural variation from eight human genomes. Nature. 2008;453(7191):56-64. doi:10.1038/nature06862.
Jones FC, Grabherr MG, Chan YF, et al. The genomic basis of adaptive evolution in threespine sticklebacks. Nature. 2012;484(7392):55-61. doi:10.1038/nature10944.
Boettger LM, Handsaker RE, Zody MC, McCarroll SA. Structural haplotypes and recent evolution of the human 17q21.31 region. Nat Genet. 2012;44(8):881-5. doi:10.1038/ng.2334.
Watanabe H, Brooks AN, Meyerson M. Breaking down RET breakpoints in lung adenocarcinoma. J Thorac Oncol. 2014;9(5):590-2. doi:10.1097/JTO.0000000000000168.
Kim J, Won H-H, Kim Y, Choi JR, Yu N, Lee K-A. Breakpoint mapping by whole genome sequencing identifies PTH2R gene disruption in a patient with midline craniosynostosis and a de novo balanced chromosomal rearrangement. J Med Genet. 2015;52(10):706-9. doi:10.1136/jmedgenet-2015-103001.
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.