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Items: 1 to 20 of 37

1.

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.

Carvalho CM, Ramocki MB, Pehlivan D, Franco LM, Gonzaga-Jauregui C, Fang P, McCall A, Pivnick EK, Hines-Dowell S, Seaver LH, Friehling L, Lee S, Smith R, Del Gaudio D, Withers M, Liu P, Cheung SW, Belmont JW, Zoghbi HY, Hastings PJ, Lupski JR.

Nat Genet. 2011 Oct 2;43(11):1074-81. doi: 10.1038/ng.944.

2.

Chromothripsis identifies a rare and aggressive entity among newly diagnosed multiple myeloma patients.

Magrangeas F, Avet-Loiseau H, Munshi NC, Minvielle S.

Blood. 2011 Jul 21;118(3):675-8. doi: 10.1182/blood-2011-03-344069. Epub 2011 May 31.

3.

Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22.

Carvalho CM, Bartnik M, Pehlivan D, Fang P, Shen J, Lupski JR.

Clin Genet. 2012 Jun;81(6):532-41. doi: 10.1111/j.1399-0004.2011.01716.x. Epub 2011 Jun 20.

4.

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.

Liu P, Erez A, Nagamani SC, Bi W, Carvalho CM, Simmons AD, Wiszniewska J, Fang P, Eng PA, Cooper ML, Sutton VR, Roeder ER, Bodensteiner JB, Delgado MR, Prakash SK, Belmont JW, Stankiewicz P, Berg JS, Shinawi M, Patel A, Cheung SW, Lupski JR.

Hum Mol Genet. 2011 May 15;20(10):1975-88. doi: 10.1093/hmg/ddr078. Epub 2011 Feb 25.

5.

Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline.

Kloosterman WP, Guryev V, van Roosmalen M, Duran KJ, de Bruijn E, Bakker SC, Letteboer T, van Nesselrooij B, Hochstenbach R, Poot M, Cuppen E.

Hum Mol Genet. 2011 May 15;20(10):1916-24. doi: 10.1093/hmg/ddr073. Epub 2011 Feb 24.

PMID:
21349919
6.

Break-induced replication is highly inaccurate.

Deem A, Keszthelyi A, Blackgrove T, Vayl A, Coffey B, Mathur R, Chabes A, Malkova A.

PLoS Biol. 2011 Feb 15;9(2):e1000594. doi: 10.1371/journal.pbio.1000594.

7.

Massive genomic rearrangement acquired in a single catastrophic event during cancer development.

Stephens PJ, Greenman CD, Fu B, Yang F, Bignell GR, Mudie LJ, Pleasance ED, Lau KW, Beare D, Stebbings LA, McLaren S, Lin ML, McBride DJ, Varela I, Nik-Zainal S, Leroy C, Jia M, Menzies A, Butler AP, Teague JW, Quail MA, Burton J, Swerdlow H, Carter NP, Morsberger LA, Iacobuzio-Donahue C, Follows GA, Green AR, Flanagan AM, Stratton MR, Futreal PA, Campbell PJ.

Cell. 2011 Jan 7;144(1):27-40. doi: 10.1016/j.cell.2010.11.055.

8.

Recurrent interstitial 1p36 deletions: Evidence for germline mosaicism and complex rearrangement breakpoints.

Gajecka M, Saitta SC, Gentles AJ, Campbell L, Ciprero K, Geiger E, Catherwood A, Rosenfeld JA, Shaikh T, Shaffer LG.

Am J Med Genet A. 2010 Dec;152A(12):3074-83. doi: 10.1002/ajmg.a.33733.

9.

New mutations and intellectual function.

Lupski JR.

Nat Genet. 2010 Dec;42(12):1036-8. doi: 10.1038/ng1210-1036. No abstract available.

PMID:
21102619
10.

Detection of clinically relevant exonic copy-number changes by array CGH.

Boone PM, Bacino CA, Shaw CA, Eng PA, Hixson PM, Pursley AN, Kang SH, Yang Y, Wiszniewska J, Nowakowska BA, del Gaudio D, Xia Z, Simpson-Patel G, Immken LL, Gibson JB, Tsai AC, Bowers JA, Reimschisel TE, Schaaf CP, Potocki L, Scaglia F, Gambin T, Sykulski M, Bartnik M, Derwinska K, Wisniowiecka-Kowalnik B, Lalani SR, Probst FJ, Bi W, Beaudet AL, Patel A, Lupski JR, Cheung SW, Stankiewicz P.

Hum Mutat. 2010 Dec;31(12):1326-42. doi: 10.1002/humu.21360. Epub 2010 Nov 2.

11.

Loss of DNA replication control is a potent inducer of gene amplification.

Green BM, Finn KJ, Li JJ.

Science. 2010 Aug 20;329(5994):943-6. doi: 10.1126/science.1190966. Erratum in: Science. 2010 Oct 22;330(6003):448.

12.

Increased mutagenesis and unique mutation signature associated with mitotic gene conversion.

Hicks WM, Kim M, Haber JE.

Science. 2010 Jul 2;329(5987):82-5. doi: 10.1126/science.1191125. Erratum in: Science. 2010 Oct 22;330(6003):448.

13.

Genomic rearrangements in inherited disease and cancer.

Chen JM, Cooper DN, FĂ©rec C, Kehrer-Sawatzki H, Patrinos GP.

Semin Cancer Biol. 2010 Aug;20(4):222-33. doi: 10.1016/j.semcancer.2010.05.007. Epub 2010 Jun 9. Review.

PMID:
20541013
14.

Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.

Zhang F, Seeman P, Liu P, Weterman MA, Gonzaga-Jauregui C, Towne CF, Batish SD, De Vriendt E, De Jonghe P, Rautenstrauss B, Krause KH, Khajavi M, Posadka J, Vandenberghe A, Palau F, Van Maldergem L, Baas F, Timmerman V, Lupski JR.

Am J Hum Genet. 2010 Jun 11;86(6):892-903. doi: 10.1016/j.ajhg.2010.05.001. Epub 2010 May 20.

15.

Leaping forks at inverted repeats.

Branzei D, Foiani M.

Genes Dev. 2010 Jan 1;24(1):5-9. doi: 10.1101/gad.1884810.

16.

Mechanisms of change in gene copy number.

Hastings PJ, Lupski JR, Rosenberg SM, Ira G.

Nat Rev Genet. 2009 Aug;10(8):551-64. doi: 10.1038/nrg2593. Review.

17.

Complex human chromosomal and genomic rearrangements.

Zhang F, Carvalho CM, Lupski JR.

Trends Genet. 2009 Jul;25(7):298-307. doi: 10.1016/j.tig.2009.05.005. Epub 2009 Jun 25. Review.

18.

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans.

Zhang F, Khajavi M, Connolly AM, Towne CF, Batish SD, Lupski JR.

Nat Genet. 2009 Jul;41(7):849-53. doi: 10.1038/ng.399. Epub 2009 Jun 21.

19.

Replicon dynamics, dormant origin firing, and terminal fork integrity after double-strand break formation.

Doksani Y, Bermejo R, Fiorani S, Haber JE, Foiani M.

Cell. 2009 Apr 17;137(2):247-58. doi: 10.1016/j.cell.2009.02.016. Epub 2009 Apr 9.

20.

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching.

Carvalho CM, Zhang F, Liu P, Patel A, Sahoo T, Bacino CA, Shaw C, Peacock S, Pursley A, Tavyev YJ, Ramocki MB, Nawara M, Obersztyn E, Vianna-Morgante AM, Stankiewicz P, Zoghbi HY, Cheung SW, Lupski JR.

Hum Mol Genet. 2009 Jun 15;18(12):2188-203. doi: 10.1093/hmg/ddp151. Epub 2009 Mar 26.

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