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Results: 1 to 20 of 115

Similar articles for PubMed (Select 15918152)

1.

Segmental duplications and copy-number variation in the human genome.

Sharp AJ, Locke DP, McGrath SD, Cheng Z, Bailey JA, Vallente RU, Pertz LM, Clark RA, Schwartz S, Segraves R, Oseroff VV, Albertson DG, Pinkel D, Eichler EE.

Am J Hum Genet. 2005 Jul;77(1):78-88. Epub 2005 May 25.

2.

Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation.

Brand H, Collins RL, Hanscom C, Rosenfeld JA, Pillalamarri V, Stone MR, Kelley F, Mason T, Margolin L, Eggert S, Mitchell E, Hodge JC, Gusella JF, Sanders SJ, Talkowski ME.

Am J Hum Genet. 2015 Jul 2;97(1):170-176. doi: 10.1016/j.ajhg.2015.05.012. Epub 2015 Jun 18.

PMID:
26094575
3.
4.

Adaptive potential of genomic structural variation in human and mammalian evolution.

Radke DW, Lee C.

Brief Funct Genomics. 2015 May 23. pii: elv019. [Epub ahead of print] Review.

PMID:
26003631
5.

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.

Hum Mol Genet. 2015 Jul 15;24(14):4061-77. doi: 10.1093/hmg/ddv146. Epub 2015 Apr 23.

6.

Structural variation mutagenesis of the human genome: Impact on disease and evolution.

Lupski JR.

Environ Mol Mutagen. 2015 Apr 17. doi: 10.1002/em.21943. [Epub ahead of print]

PMID:
25892534
7.

Large multiallelic copy number variations in humans.

Handsaker RE, Van Doren V, Berman JR, Genovese G, Kashin S, Boettger LM, McCarroll SA.

Nat Genet. 2015 Mar;47(3):296-303. doi: 10.1038/ng.3200. Epub 2015 Jan 26.

PMID:
25621458
8.

Comprehensive variation discovery in single human genomes.

Weisenfeld NI, Yin S, Sharpe T, Lau B, Hegarty R, Holmes L, Sogoloff B, Tabbaa D, Williams L, Russ C, Nusbaum C, Lander ES, MacCallum I, Jaffe DB.

Nat Genet. 2014 Dec;46(12):1350-5. doi: 10.1038/ng.3121. Epub 2014 Oct 19.

9.

Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability.

Antonacci F, Dennis MY, Huddleston J, Sudmant PH, Steinberg KM, Rosenfeld JA, Miroballo M, Graves TA, Vives L, Malig M, Denman L, Raja A, Stuart A, Tang J, Munson B, Shaffer LG, Amemiya CT, Wilson RK, Eichler EE.

Nat Genet. 2014 Dec;46(12):1293-302. doi: 10.1038/ng.3120. Epub 2014 Oct 19.

10.

Species and gene divergence in Littorina snails detected by array comparative genomic hybridization.

Panova M, Johansson T, Canbäck B, Bentzer J, Rosenblad MA, Johannesson K, Tunlid A, André C.

BMC Genomics. 2014 Aug 18;15:687. doi: 10.1186/1471-2164-15-687.

11.

Finished sequence and assembly of the DUF1220-rich 1q21 region using a haploid human genome.

O'Bleness M, Searles VB, Dickens CM, Astling D, Albracht D, Mak AC, Lai YY, Lin C, Chu C, Graves T, Kwok PY, Wilson RK, Sikela JM.

BMC Genomics. 2014 May 20;15:387. doi: 10.1186/1471-2164-15-387.

12.

Resolving genomic disorder-associated breakpoints within segmental DNA duplications using massively parallel sequencing.

Nuttle X, Itsara A, Shendure J, Eichler EE.

Nat Protoc. 2014;9(6):1496-513. doi: 10.1038/nprot.2014.096. Epub 2014 May 29.

13.

Association of microsatellite pairs with segmental duplications in insect genomes.

Behura SK, Severson DW.

BMC Genomics. 2013 Dec 21;14:907. doi: 10.1186/1471-2164-14-907.

14.

Identification of both copy number variation-type and constant-type core elements in a large segmental duplication region of the mouse genome.

Umemori J, Mori A, Ichiyanagi K, Uno T, Koide T.

BMC Genomics. 2013 Jul 8;14:455. doi: 10.1186/1471-2164-14-455.

15.

Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.

Girirajan S, Dennis MY, Baker C, Malig M, Coe BP, Campbell CD, Mark K, Vu TH, Alkan C, Cheng Z, Biesecker LG, Bernier R, Eichler EE.

Am J Hum Genet. 2013 Feb 7;92(2):221-37. doi: 10.1016/j.ajhg.2012.12.016. Epub 2013 Jan 31.

16.

A common copy-number breakpoint of ERBB2 amplification in breast cancer colocalizes with a complex block of segmental duplications.

Marotta M, Chen X, Inoshita A, Stephens R, Budd GT, Crowe JP, Lyons J, Kondratova A, Tubbs R, Tanaka H.

Breast Cancer Res. 2012 Nov 26;14(6):R150. doi: 10.1186/bcr3362.

17.

Efficient typing of copy number variations in a segmental duplication-mediated rearrangement hotspot using multiplex competitive amplification.

Du R, Lu C, Jiang Z, Li S, Ma R, An H, Xu M, An Y, Xia Y, Jin L, Wang X, Zhang F.

J Hum Genet. 2012 Aug;57(8):545-51. doi: 10.1038/jhg.2012.66. Epub 2012 Jun 7.

PMID:
22673690
18.

Copy-number variations observed in a Japanese population by BAC array CGH: summary of relatively rare CNVs.

Satoh Y, Sasaki K, Shimoichi Y, Sugita K, Katayama H, Takahashi N.

J Biomed Biotechnol. 2012;2012:789024. doi: 10.1155/2012/789024. Epub 2012 Jan 24.

19.

A recurrent translocation is mediated by homologous recombination between HERV-H elements.

Hermetz KE, Surti U, Cody JD, Rudd MK.

Mol Cytogenet. 2012 Jan 19;5(1):6. doi: 10.1186/1755-8166-5-6.

20.

Genome-wide signatures of 'rearrangement hotspots' within segmental duplications in humans.

Uddin M, Sturge M, Peddle L, O'Rielly DD, Rahman P.

PLoS One. 2011;6(12):e28853. doi: 10.1371/journal.pone.0028853. Epub 2011 Dec 14.

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