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Assessment of parental mosaicism in SCN1A-related epilepsy by single-molecule molecular inversion probes and next-generation sequencing.
de Lange IM, Koudijs MJ, van 't Slot R, Sonsma ACM, Mulder F, Carbo EC, van Kempen MJA, Nijman IJ, Ernst RF, Savelberg SMC, Knoers NVAM, Brilstra EH, Koeleman BPC. de Lange IM, et al. Among authors: koudijs mj. J Med Genet. 2019 Feb;56(2):75-80. doi: 10.1136/jmedgenet-2018-105672. Epub 2018 Oct 27. J Med Genet. 2019. PMID: 30368457
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: koudijs m. 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: koudijs mj. 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
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. Hoogstraat M, et al. Among authors: koudijs mj. Genome Res. 2014 Feb;24(2):200-11. doi: 10.1101/gr.161026.113. Epub 2013 Nov 12. Genome Res. 2014. PMID: 24221193 Free PMC article.
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: koudijs mj. PLoS One. 2016 Feb 26;11(2):e0149405. doi: 10.1371/journal.pone.0149405. eCollection 2016. PLoS One. 2016. PMID: 26919633 Free PMC article.
Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes.
de Lange IM, Koudijs MJ, van 't Slot R, Gunning B, Sonsma ACM, van Gemert LJJM, Mulder F, Carbo EC, van Kempen MJA, Verbeek NE, Nijman IJ, Ernst RF, Savelberg SMC, Knoers NVAM, Brilstra EH, Koeleman BPC. de Lange IM, et al. Among authors: koudijs mj. Epilepsia. 2018 Mar;59(3):690-703. doi: 10.1111/epi.14021. Epub 2018 Feb 20. Epilepsia. 2018. PMID: 29460957
The molecular genetic make-up of male breast cancer.
Moelans CB, de Ligt J, van der Groep P, Prins P, Besselink NJM, Hoogstraat M, Ter Hoeve ND, Lacle MM, Kornegoor R, van der Pol CC, de Leng WWJ, Barbé E, van der Vegt B, Martens J, Bult P, Smit VTHBM, Koudijs MJ, Nijman IJ, Voest EE, Selenica P, Weigelt B, Reis-Filho JS, van der Wall E, Cuppen E, van Diest PJ. Moelans CB, et al. Among authors: koudijs mj. Endocr Relat Cancer. 2019 Oct;26(10):779-794. doi: 10.1530/ERC-19-0278. Endocr Relat Cancer. 2019. PMID: 31340200 Free PMC article.
49 results