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Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2.
Beck CR, Carvalho CMB, Akdemir ZC, Sedlazeck FJ, Song X, Meng Q, Hu J, Doddapaneni H, Chong Z, Chen ES, Thornton PC, Liu P, Yuan B, Withers M, Jhangiani SN, Kalra D, Walker K, English AC, Han Y, Chen K, Muzny DM, Ira G, Shaw CA, Gibbs RA, Hastings PJ, Lupski JR. Beck CR, et al. Among authors: ira g. Cell. 2019 Mar 7;176(6):1310-1324.e10. doi: 10.1016/j.cell.2019.01.045. Epub 2019 Feb 28. Cell. 2019. PMID: 30827684 Free PMC article.
Absence of heterozygosity due to template switching during replicative rearrangements.
Carvalho CM, Pfundt R, King DA, Lindsay SJ, Zuccherato LW, Macville MV, Liu P, Johnson D, Stankiewicz P, Brown CW; DDD Study; Shaw CA, Hurles ME, Ira G, Hastings PJ, Brunner HG, Lupski JR. Carvalho CM, et al. Among authors: ira g. Am J Hum Genet. 2015 Apr 2;96(4):555-64. doi: 10.1016/j.ajhg.2015.01.021. Epub 2015 Mar 19. Am J Hum Genet. 2015. PMID: 25799105 Free PMC article.
Mechanisms of change in gene copy number.
Hastings PJ, Lupski JR, Rosenberg SM, Ira G. Hastings PJ, et al. Among authors: ira g. Nat Rev Genet. 2009 Aug;10(8):551-64. doi: 10.1038/nrg2593. Nat Rev Genet. 2009. PMID: 19597530 Free PMC article. Review.
Tracking break-induced replication shows that it stalls at roadblocks.
Liu L, Yan Z, Osia BA, Twarowski J, Sun L, Kramara J, Lee RS, Kumar S, Elango R, Li H, Dang W, Ira G, Malkova A. Liu L, et al. Among authors: ira g. Nature. 2021 Feb;590(7847):655-659. doi: 10.1038/s41586-020-03172-w. Epub 2021 Jan 20. Nature. 2021. PMID: 33473214 Free PMC article.
70 results