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Targeted Next Generation Sequencing as a Reliable Diagnostic Assay for the Detection of Somatic Mutations in Tumours Using Minimal DNA Amounts from Formalin Fixed Paraffin Embedded Material.
de Leng WW, Gadellaa-van Hooijdonk CG, Barendregt-Smouter FA, Koudijs MJ, Nijman I, Hinrichs JW, Cuppen E, van Lieshout S, Loberg RD, de Jonge M, Voest EE, de Weger RA, Steeghs N, Langenberg MH, Sleijfer S, Willems SM, Lolkema MP. de Leng WW, et al. Among authors: cuppen e. PLoS One. 2016 Feb 26;11(2):e0149405. doi: 10.1371/journal.pone.0149405. eCollection 2016. PLoS One. 2016. PMID: 26919633 Free PMC article.
Genetic variation in the zebrafish.
Guryev V, Koudijs MJ, Berezikov E, Johnson SL, Plasterk RH, van Eeden FJ, Cuppen E. Guryev V, et al. Among authors: cuppen e. Genome Res. 2006 Apr;16(4):491-7. doi: 10.1101/gr.4791006. Epub 2006 Mar 13. Genome Res. 2006. PMID: 16533913 Free PMC article.
Systematic generation of in vivo G protein-coupled receptor mutants in the rat.
van Boxtel R, Vroling B, Toonen P, Nijman IJ, van Roekel H, Verheul M, Baakman C, Guryev V, Vriend G, Cuppen E. van Boxtel R, et al. Among authors: cuppen e. Pharmacogenomics J. 2011 Oct;11(5):326-36. doi: 10.1038/tpj.2010.44. Epub 2010 Jun 8. Pharmacogenomics J. 2011. PMID: 20531371 Free PMC article.
Genomic DNA pooling strategy for next-generation sequencing-based rare variant discovery in abdominal aortic aneurysm regions of interest-challenges and limitations.
Harakalova M, Nijman IJ, Medic J, Mokry M, Renkens I, Blankensteijn JD, Kloosterman W, Baas AF, Cuppen E. Harakalova M, et al. Among authors: cuppen e. J Cardiovasc Transl Res. 2011 Jun;4(3):271-80. doi: 10.1007/s12265-011-9263-5. Epub 2011 Mar 1. J Cardiovasc Transl Res. 2011. PMID: 21360310 Free PMC article.
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. Kloosterman WP, et al. Among authors: cuppen e. Genome Biol. 2011 Oct 19;12(10):R103. doi: 10.1186/gb-2011-12-10-r103. Genome Biol. 2011. PMID: 22014273 Free PMC article.
Primary colorectal cancers and their subsequent hepatic metastases are genetically different: implications for selection of patients for targeted treatment.
Vermaat JS, Nijman IJ, Koudijs MJ, Gerritse FL, Scherer SJ, Mokry M, Roessingh WM, Lansu N, de Bruijn E, van Hillegersberg R, van Diest PJ, Cuppen E, Voest EE. Vermaat JS, et al. Among authors: cuppen e. Clin Cancer Res. 2012 Feb 1;18(3):688-99. doi: 10.1158/1078-0432.CCR-11-1965. Epub 2011 Dec 15. Clin Cancer Res. 2012. PMID: 22173549
X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face.
Harakalova M, van den Boogaard MJ, Sinke R, van Lieshout S, van Tuil MC, Duran K, Renkens I, Terhal PA, de Kovel C, Nijman IJ, van Haelst M, Knoers NV, van Haaften G, Kloosterman W, Hennekam RC, Cuppen E, Ploos van Amstel HK. Harakalova M, et al. Among authors: cuppen e. J Med Genet. 2012 Aug;49(8):539-43. doi: 10.1136/jmedgenet-2012-100921. J Med Genet. 2012. PMID: 22889856
A deep sequencing approach to uncover the miRNOME in the human heart.
Leptidis S, El Azzouzi H, Lok SI, de Weger R, Olieslagers S, Kisters N, Silva GJ, Heymans S, Cuppen E, Berezikov E, De Windt LJ, da Costa Martins P. Leptidis S, et al. Among authors: cuppen e. PLoS One. 2013;8(2):e57800. doi: 10.1371/journal.pone.0057800. Epub 2013 Feb 27. PLoS One. 2013. PMID: 23460909 Free PMC article.
314 results