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Year Number of Results
2015 4
2016 1
2020 0
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Page 1
Non-coding genetic variants in human disease.
Zhang F, Lupski JR. Zhang F, et al. Hum Mol Genet. 2015 Oct 15;24(R1):R102-10. doi: 10.1093/hmg/ddv259. Epub 2015 Jul 7. Hum Mol Genet. 2015. PMID: 26152199 Free PMC article. Review.
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. 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.
Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.
Gu S, Yuan B, Campbell IM, Beck CR, Carvalho CM, Nagamani SC, Erez A, Patel A, Bacino CA, Shaw CA, Stankiewicz P, Cheung SW, Bi W, Lupski JR. Gu S, et al. Hum Mol Genet. 2015 Jul 15;24(14):4061-77. doi: 10.1093/hmg/ddv146. Epub 2015 Apr 23. Hum Mol Genet. 2015. PMID: 25908615 Free PMC article.
Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation.
Gu S, Posey JE, Yuan B, Carvalho CM, Luk HM, Erikson K, Lo IF, Leung GK, Pickering CR, Chung BH, Lupski JR. Gu S, et al. Hum Mutat. 2016 Feb;37(2):160-4. doi: 10.1002/humu.22929. Epub 2015 Dec 2. Hum Mutat. 2016. PMID: 26549411 Free PMC article.