Lupski JR - Search Results

1

Lloyd KCK, Adams DJ, Baynam G, Beaudet AL, Bosch F, Boycott KM, Braun RE, Caulfield M, Cohn R, Dickinson ME, Dobbie MS, Flenniken AM, Flicek P, Galande S, Gao X, Grobler A, Heaney JD, Herault Y, de Angelis MH, Lupski JR, Lyonnet S, Mallon AM, Mammano F, MacRae CA, McInnes R, McKerlie C, Meehan TF, Murray SA, Nutter LMJ, Obata Y, Parkinson H, Pepper MS, Sedlacek R, Seong JK, Shiroishi T, Smedley D, Tocchini-Valentini G, Valle D, Wang CL, Wells S, White J, Wurst W, Xu Y, Brown SDM. Lloyd KCK, et al. Among authors: lupski jr. Genome Biol. 2020 Feb 3;21(1):18. doi: 10.1186/s13059-020-1931-9. Genome Biol. 2020. PMID: 32008577 Free PMC article. No abstract available.

2

Localization of mariner DNA transposons in the human genome by PRINS.

Reiter LT, Liehr T, Rautenstrauss B, Robertson HM, Lupski JR. Reiter LT, et al. Among authors: lupski jr. Genome Res. 1999 Sep;9(9):839-43. doi: 10.1101/gr.9.9.839. Genome Res. 1999. PMID: 10508842 Free PMC article.

3

The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes.

Inoue K, Dewar K, Katsanis N, Reiter LT, Lander ES, Devon KL, Wyman DW, Lupski JR, Birren B. Inoue K, et al. Among authors: lupski jr. Genome Res. 2001 Jun;11(6):1018-33. doi: 10.1101/gr.180401. Genome Res. 2001. PMID: 11381029 Free PMC article.

4

Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders.

Shaw CJ, Shaw CA, Yu W, Stankiewicz P, White LD, Beaudet AL, Lupski JR. Shaw CJ, et al. Among authors: lupski jr. J Med Genet. 2004 Feb;41(2):113-9. doi: 10.1136/jmg.2003.012831. J Med Genet. 2004. PMID: 14757858 Free PMC article.

5

Hotspots of homologous recombination in the human genome: not all homologous sequences are equal.

Lupski JR. Lupski JR. Genome Biol. 2004;5(10):242. doi: 10.1186/gb-2004-5-10-242. Epub 2004 Sep 28. Genome Biol. 2004. PMID: 15461806 Free PMC article. Review.

6

Serial segmental duplications during primate evolution result in complex human genome architecture.

Stankiewicz P, Shaw CJ, Withers M, Inoue K, Lupski JR. Stankiewicz P, et al. Among authors: lupski jr. Genome Res. 2004 Nov;14(11):2209-20. doi: 10.1101/gr.2746604. Genome Res. 2004. PMID: 15520286 Free PMC article.

7

Development and validation of a CGH microarray for clinical cytogenetic diagnosis.

Cheung SW, Shaw CA, Yu W, Li J, Ou Z, Patel A, Yatsenko SA, Cooper ML, Furman P, Stankiewicz P, Lupski JR, Chinault AC, Beaudet AL. Cheung SW, et al. Among authors: lupski jr. Genet Med. 2005 Jul-Aug;7(6):422-32. doi: 10.1097/01.gim.0000170992.63691.32. Genet Med. 2005. PMID: 16024975 Free article.

8

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.

9

Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases.

Lu X, Shaw CA, Patel A, Li J, Cooper ML, Wells WR, Sullivan CM, Sahoo T, Yatsenko SA, Bacino CA, Stankiewicz P, Ou Z, Chinault AC, Beaudet AL, Lupski JR, Cheung SW, Ward PA. Lu X, et al. Among authors: lupski jr. PLoS One. 2007 Mar 28;2(3):e327. doi: 10.1371/journal.pone.0000327. PLoS One. 2007. PMID: 17389918 Free PMC article.

10

Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases.

Shao L, Shaw CA, Lu XY, Sahoo T, Bacino CA, Lalani SR, Stankiewicz P, Yatsenko SA, Li Y, Neill S, Pursley AN, Chinault AC, Patel A, Beaudet AL, Lupski JR, Cheung SW. Shao L, et al. Among authors: lupski jr. Am J Med Genet A. 2008 Sep 1;146A(17):2242-51. doi: 10.1002/ajmg.a.32399. Am J Med Genet A. 2008. PMID: 18663743 Free PMC article.

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