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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.
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. Hochstenbach R, et al. Among authors: cuppen e. Eur J Hum Genet. 2012 Jul;20(7):748-53. doi: 10.1038/ejhg.2011.263. Epub 2012 Jan 18. Eur J Hum Genet. 2012. PMID: 22258528 Free PMC article.
Genetic etiology of renal agenesis: fine mapping of Renag1 and identification of Kit as the candidate functional gene.
Samanas NB, Commers TW, Dennison KL, Harenda QE, Kurz SG, Lachel CM, Wavrin KL, Bowler M, Nijman IJ, Guryev V, Cuppen E, Hubner N, Sullivan R, Vezina CM, Shull JD. Samanas NB, et al. Among authors: cuppen e. PLoS One. 2015 Feb 18;10(2):e0118147. doi: 10.1371/journal.pone.0118147. eCollection 2015. PLoS One. 2015. PMID: 25693193 Free PMC article.
Ankyrin repeat and zinc-finger domain-containing 1 mutations are associated with infantile-onset inflammatory bowel disease.
van Haaften-Visser DY, Harakalova M, Mocholi E, van Montfrans JM, Elkadri A, Rieter E, Fiedler K, van Hasselt PM, Triffaux EMM, van Haelst MM, Nijman IJ, Kloosterman WP, Nieuwenhuis EES, Muise AM, Cuppen E, Houwen RHJ, Coffer PJ. van Haaften-Visser DY, et al. Among authors: cuppen e. J Biol Chem. 2017 May 12;292(19):7904-7920. doi: 10.1074/jbc.M116.772038. Epub 2017 Mar 16. J Biol Chem. 2017. PMID: 28302725 Free PMC article.
Sambamba: fast processing of NGS alignment formats.
Tarasov A, Vilella AJ, Cuppen E, Nijman IJ, Prins P. Tarasov A, et al. Among authors: cuppen e. Bioinformatics. 2015 Jun 15;31(12):2032-4. doi: 10.1093/bioinformatics/btv098. Epub 2015 Feb 19. Bioinformatics. 2015. PMID: 25697820 Free PMC article.
309 results