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782 results
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Genome structural variation and sporadic disease traits.
Lupski JR. Lupski JR. Nat Genet. 2006 Sep;38(9):974-6. doi: 10.1038/ng0906-974. Nat Genet. 2006. PMID: 16941003 No abstract available.
Replicative mechanisms for CNV formation are error prone.
Carvalho CM, Pehlivan D, Ramocki MB, Fang P, Alleva B, Franco LM, Belmont JW, Hastings PJ, Lupski JR. Carvalho CM, et al. Among authors: lupski jr. Nat Genet. 2013 Nov;45(11):1319-26. doi: 10.1038/ng.2768. Epub 2013 Sep 22. Nat Genet. 2013. PMID: 24056715 Free PMC article.
Genome architecture catalyzes nonrecurrent chromosomal rearrangements.
Stankiewicz P, Shaw CJ, Dapper JD, Wakui K, Shaffer LG, Withers M, Elizondo L, Park SS, Lupski JR. Stankiewicz P, et al. Among authors: lupski jr. Am J Hum Genet. 2003 May;72(5):1101-16. doi: 10.1086/374385. Epub 2003 Mar 20. Am J Hum Genet. 2003. PMID: 12649807 Free PMC article.
Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease.
Shaw CJ, Lupski JR. Shaw CJ, et al. Among authors: lupski jr. Hum Mol Genet. 2004 Apr 1;13 Spec No 1:R57-64. doi: 10.1093/hmg/ddh073. Epub 2004 Feb 5. Hum Mol Genet. 2004. PMID: 14764619 Review.
Copy number variation in human health, disease, and evolution.
Zhang F, Gu W, Hurles ME, Lupski JR. Zhang F, et al. Among authors: lupski jr. Annu Rev Genomics Hum Genet. 2009;10:451-81. doi: 10.1146/annurev.genom.9.081307.164217. Annu Rev Genomics Hum Genet. 2009. PMID: 19715442 Free PMC article. Review.
Genomic rearrangements and sporadic disease.
Lupski JR. Lupski JR. Nat Genet. 2007 Jul;39(7 Suppl):S43-7. doi: 10.1038/ng2084. Nat Genet. 2007. PMID: 17597781 Review.
Structural variation in the human genome.
Lupski JR. Lupski JR. N Engl J Med. 2007 Mar 15;356(11):1169-71. doi: 10.1056/NEJMcibr067658. N Engl J Med. 2007. PMID: 17360997 No abstract available.
Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease.
Lee JA, Inoue K, Cheung SW, Shaw CA, Stankiewicz P, Lupski JR. Lee JA, et al. Among authors: lupski jr. Hum Mol Genet. 2006 Jul 15;15(14):2250-65. doi: 10.1093/hmg/ddl150. Epub 2006 Jun 14. Hum Mol Genet. 2006. PMID: 16774974
Genome architecture, rearrangements and genomic disorders.
Stankiewicz P, Lupski JR. Stankiewicz P, et al. Among authors: lupski jr. Trends Genet. 2002 Feb;18(2):74-82. doi: 10.1016/s0168-9525(02)02592-1. Trends Genet. 2002. PMID: 11818139 Review.
Mechanisms underlying structural variant formation in genomic disorders.
Carvalho CM, Lupski JR. Carvalho CM, et al. Among authors: lupski jr. Nat Rev Genet. 2016 Apr;17(4):224-38. doi: 10.1038/nrg.2015.25. Epub 2016 Feb 29. Nat Rev Genet. 2016. PMID: 26924765 Free PMC article. Review.
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