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Results: 1 to 20 of 32

1.

Clinical and molecular characterization of an infant with a tandem duplication and deletion of 19p13.

Tan RN, Witlox RS, Hilhorst-Hofstee Y, Peeters-Scholte CM, den Hollander NS, Ruivenkamp CA, Hoffer MJ, Hansson KB, van Roosmalen MJ, Kloosterman WP, Santen GW.

Am J Med Genet A. 2015 Apr 21. doi: 10.1002/ajmg.a.37076. [Epub ahead of print]

PMID:
25900458
2.

Characteristics of de novo structural changes in the human genome.

Kloosterman WP, Francioli LC, Hormozdiari F, Marschall T, Hehir-Kwa JY, Abdellaoui A, Lameijer EW, Moed MH, Koval V, Renkens I, van Roosmalen MJ, Arp P, Karssen LC, Coe BP, Handsaker RE, Suchiman ED, Cuppen E, Thung DT, McVey M, Wendl MC, Uitterlinden A, van Duijn CM, Swertz M, Wijmenga C, van Ommen G, Slagboom PE, Boomsma DI, Schönhuth A, Eichler EE, de Bakker PI, Ye K, Guryev V.

Genome Res. 2015 Apr 16. pii: gr.185041.114. [Epub ahead of print]

PMID:
25883321
3.

Chromothripsis in healthy individuals affects multiple protein-coding genes and can result in severe congenital abnormalities in offspring.

de Pagter MS, van Roosmalen MJ, Baas AF, Renkens I, Duran KJ, van Binsbergen E, Tavakoli-Yaraki M, Hochstenbach R, van der Veken LT, Cuppen E, Kloosterman WP.

Am J Hum Genet. 2015 Apr 2;96(4):651-6. doi: 10.1016/j.ajhg.2015.02.005. Epub 2015 Mar 19.

PMID:
25799107
4.

Deciphering the pathogenic consequences of chromosomal aberrations in human genetic disease.

Kloosterman WP, Hochstenbach R.

Mol Cytogenet. 2014 Dec 19;7(1):100. doi: 10.1186/s13039-014-0100-9. eCollection 2014.

5.

ViVar: a comprehensive platform for the analysis and visualization of structural genomic variation.

Sante T, Vergult S, Volders PJ, Kloosterman WP, Trooskens G, De Preter K, Dheedene A, Speleman F, De Meyer T, Menten B.

PLoS One. 2014 Dec 12;9(12):e113800. doi: 10.1371/journal.pone.0113800. eCollection 2014.

6.

Genomic and functional overlap between somatic and germline chromosomal rearrangements.

van Heesch S, Simonis M, van Roosmalen MJ, Pillalamarri V, Brand H, Kuijk EW, de Luca KL, Lansu N, Braat AK, Menelaou A, Hao W, Korving J, Snijder S, van der Veken LT, Hochstenbach R, Knegt AC, Duran K, Renkens I, Alekozai N, Jager M, Vergult S, Menten B, de Bruijn E, Boymans S, Ippel E, van Binsbergen E, Talkowski ME, Lichtenbelt K, Cuppen E, Kloosterman WP.

Cell Rep. 2014 Dec 24;9(6):2001-10. doi: 10.1016/j.celrep.2014.11.022. Epub 2014 Dec 11.

7.

Prevalence and clinical implications of chromothripsis in cancer genomes.

Kloosterman WP, Koster J, Molenaar JJ.

Curr Opin Oncol. 2014 Jan;26(1):64-72. doi: 10.1097/CCO.0000000000000038. Review.

PMID:
24305569
8.

Genomic and transcriptomic plasticity in treatment-naive ovarian cancer.

Hoogstraat M, de Pagter MS, Cirkel GA, van Roosmalen MJ, Harkins TT, Duran K, Kreeftmeijer J, Renkens I, Witteveen PO, Lee CC, Nijman IJ, Guy T, van 't Slot R, Jonges TN, Lolkema MP, Koudijs MJ, Zweemer RP, Voest EE, Cuppen E, Kloosterman WP.

Genome Res. 2014 Feb;24(2):200-11. doi: 10.1101/gr.161026.113. Epub 2013 Nov 12.

9.

Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations.

Vergult S, Van Binsbergen E, Sante T, Nowak S, Vanakker O, Claes K, Poppe B, Van der Aa N, van Roosmalen MJ, Duran K, Tavakoli-Yaraki M, Swinkels M, van den Boogaard MJ, van Haelst M, Roelens F, Speleman F, Cuppen E, Mortier G, Kloosterman WP, Menten B.

Eur J Hum Genet. 2014 May;22(5):652-9. doi: 10.1038/ejhg.2013.220. Epub 2013 Oct 9.

10.

Improving mammalian genome scaffolding using large insert mate-pair next-generation sequencing.

van Heesch S, Kloosterman WP, Lansu N, Ruzius FP, Levandowsky E, Lee CC, Zhou S, Goldstein S, Schwartz DC, Harkins TT, Guryev V, Cuppen E.

BMC Genomics. 2013 Apr 16;14:257. doi: 10.1186/1471-2164-14-257.

11.

MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease.

Stoffels M, Szperl A, Simon A, Netea MG, Plantinga TS, van Deuren M, Kamphuis S, Lachmann HJ, Cuppen E, Kloosterman WP, Frenkel J, van Diemen CC, Wijmenga C, van Gijn M, van der Meer JW.

Ann Rheum Dis. 2014 Feb;73(2):455-61. doi: 10.1136/annrheumdis-2012-202580. Epub 2013 Mar 16.

PMID:
23505238
12.

Chromothripsis in congenital disorders and cancer: similarities and differences.

Kloosterman WP, Cuppen E.

Curr Opin Cell Biol. 2013 Jun;25(3):341-8. doi: 10.1016/j.ceb.2013.02.008. Epub 2013 Mar 13. Review.

PMID:
23478216
13.

Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms.

Kloosterman WP, Tavakoli-Yaraki M, van Roosmalen MJ, van Binsbergen E, Renkens I, Duran K, Ballarati L, Vergult S, Giardino D, Hansson K, Ruivenkamp CA, Jager M, van Haeringen A, Ippel EF, Haaf T, Passarge E, Hochstenbach R, Menten B, Larizza L, Guryev V, Poot M, Cuppen E.

Cell Rep. 2012 Jun 28;1(6):648-55. doi: 10.1016/j.celrep.2012.05.009. Epub 2012 Jun 15.

14.

Dominant missense mutations in ABCC9 cause CantĂș syndrome.

Harakalova M, van Harssel JJ, Terhal PA, van Lieshout S, Duran K, Renkens I, Amor DJ, Wilson LC, Kirk EP, Turner CL, Shears D, Garcia-Minaur S, Lees MM, Ross A, Venselaar H, Vriend G, Takanari H, Rook MB, van der Heyden MA, Asselbergs FW, Breur HM, Swinkels ME, Scurr IJ, Smithson SF, Knoers NV, van der Smagt JJ, Nijman IJ, Kloosterman WP, van Haelst MM, van Haaften G, Cuppen E.

Nat Genet. 2012 May 18;44(7):793-6. doi: 10.1038/ng.2324.

PMID:
22610116
15.

Elucidation of a novel pathogenomic mechanism using genome-wide long mate-pair sequencing of a congenital t(16;21) in a series of three RUNX1-mutated FPD/AML pedigrees.

Buijs A, Poot M, van der Crabben S, van der Zwaag B, van Binsbergen E, van Roosmalen MJ, Tavakoli-Yaraki M, de Weerdt O, Nieuwenhuis HK, van Gijn M, Kloosterman WP.

Leukemia. 2012 Sep;26(9):2151-4. doi: 10.1038/leu.2012.79. Epub 2012 Mar 20. No abstract available.

PMID:
22430633
16.

Discovery of variants unmasked by hemizygous deletions.

Hochstenbach R, Poot M, Nijman IJ, Renkens I, Duran KJ, Van't Slot R, van Binsbergen E, van der Zwaag B, Vogel MJ, Terhal PA, Ploos van Amstel HK, Kloosterman WP, Cuppen E.

Eur J Hum Genet. 2012 Jul;20(7):748-53. doi: 10.1038/ejhg.2011.263. Epub 2012 Jan 18.

17.

Limited contribution of NR5A1 (SF-1) mutations in women with primary ovarian insufficiency (POI).

Janse F, de With LM, Duran KJ, Kloosterman WP, Goverde AJ, Lambalk CB, Laven JS, Fauser BC, Giltay JC; Dutch Primary Ovarian Insufficiency Consortium.

Fertil Steril. 2012 Jan;97(1):141-6.e2. doi: 10.1016/j.fertnstert.2011.10.032. Epub 2011 Nov 17.

PMID:
22100173
18.

Multiplexed array-based and in-solution genomic enrichment for flexible and cost-effective targeted next-generation sequencing.

Harakalova M, Mokry M, Hrdlickova B, Renkens I, Duran K, van Roekel H, Lansu N, van Roosmalen M, de Bruijn E, Nijman IJ, Kloosterman WP, Cuppen E.

Nat Protoc. 2011 Nov 3;6(12):1870-86. doi: 10.1038/nprot.2011.396.

PMID:
22051800
19.

Chromothripsis is a common mechanism driving genomic rearrangements in primary and metastatic colorectal cancer.

Kloosterman WP, Hoogstraat M, Paling O, Tavakoli-Yaraki M, Renkens I, Vermaat JS, van Roosmalen MJ, van Lieshout S, Nijman IJ, Roessingh W, van 't Slot R, van de Belt J, Guryev V, Koudijs M, Voest E, Cuppen E.

Genome Biol. 2011 Oct 19;12(10):R103. doi: 10.1186/gb-2011-12-10-r103.

20.

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.

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