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Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.
Vrijenhoek T, Kraaijeveld K, Elferink M, de Ligt J, Kranendonk E, Santen G, Nijman IJ, Butler D, Claes G, Costessi A, Dorlijn W, van Eyndhoven W, Halley DJ, van den Hout MC, van Hove S, Johansson LF, Jongbloed JD, Kamps R, Kockx CE, de Koning B, Kriek M, Lekanne Dit Deprez R, Lunstroo H, Mannens M, Mook OR, Nelen M, Ploem C, Rijnen M, Saris JJ, Sinke R, Sistermans E, van Slegtenhorst M, Sleutels F, van der Stoep N, van Tienhoven M, Vermaat M, Vogel M, Waisfisz Q, Marjan Weiss J, van den Wijngaard A, van Workum W, Ijntema H, van der Zwaag B, van IJcken WF, den Dunnen J, Veltman JA, Hennekam R, Cuppen E. Vrijenhoek T, et al. Among authors: kockx ce. Eur J Hum Genet. 2015 Sep;23(9):1142-50. doi: 10.1038/ejhg.2014.279. Epub 2015 Jan 28. Eur J Hum Genet. 2015. PMID: 25626705 Free PMC article.
Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.
Vrijenhoek T, Kraaijeveld K, Elferink M, de Ligt J, Kranendonk E, Santen G, Nijman IJ, Butler D, Claes G, Costessi A, Dorlijn W, van Eyndhoven W, Halley DJ, van den Hout MC, van Hove S, Johansson LF, Jongbloed JD, Kamps R, Kockx CE, de Koning B, Kriek M, Deprez RL, Lunstroo H, Mannens M, Mook OR, Nelen M, Ploem C, Rijnen M, Saris JJ, Sinke R, Sistermans E, van Slegtenhorst M, Sleutels F, van der Stoep N, van Tienhoven M, Vermaat M, Vogel M, Waisfisz Q, Weiss JM, van den Wijngaard A, van Workum W, Ijntema H, van der Zwaag B, van IJcken WF, den Dunnen JT, Veltman JA, Hennekam R, Cuppen E. Vrijenhoek T, et al. Among authors: kockx ce. Eur J Hum Genet. 2015 Sep;23(9):1270. doi: 10.1038/ejhg.2015.44. Eur J Hum Genet. 2015. PMID: 26269248 Free PMC article. No abstract available.
Nimbus: a design-driven analyses suite for amplicon-based NGS data.
Brouwer RWW, van den Hout MCGN, Kockx CEM, Brosens E, Eussen B, de Klein A, Sleutels F, van IJcken WFJ. Brouwer RWW, et al. Among authors: kockx cem. Bioinformatics. 2018 Aug 15;34(16):2732-2739. doi: 10.1093/bioinformatics/bty145. Bioinformatics. 2018. PMID: 29538618 Free PMC article.
Deciphering the RNA landscape by RNAome sequencing.
Derks KW, Misovic B, van den Hout MC, Kockx CE, Gomez CP, Brouwer RW, Vrieling H, Hoeijmakers JH, van IJcken WF, Pothof J. Derks KW, et al. Among authors: kockx ce. RNA Biol. 2015;12(1):30-42. doi: 10.1080/15476286.2015.1017202. RNA Biol. 2015. PMID: 25826412 Free PMC article.
Next generation sequencing of SNPs for non-invasive prenatal diagnosis: challenges and feasibility as illustrated by an application to β-thalassaemia.
Papasavva T, van Ijcken WF, Kockx CE, van den Hout MC, Kountouris P, Kythreotis L, Kalogirou E, Grosveld FG, Kleanthous M. Papasavva T, et al. Among authors: kockx ce. Eur J Hum Genet. 2013 Dec;21(12):1403-10. doi: 10.1038/ejhg.2013.47. Epub 2013 Apr 10. Eur J Hum Genet. 2013. PMID: 23572027 Free PMC article.
Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations.
Nellist M, Brouwer RW, Kockx CE, van Veghel-Plandsoen M, Withagen-Hermans C, Prins-Bakker L, Hoogeveen-Westerveld M, Mrsic A, van den Berg MM, Koopmans AE, de Wit MC, Jansen FE, Maat-Kievit AJ, van den Ouweland A, Halley D, de Klein A, van IJcken WF. Nellist M, et al. Among authors: kockx ce. BMC Med Genet. 2015 Feb 25;16:10. doi: 10.1186/s12881-015-0155-4. BMC Med Genet. 2015. PMID: 25927202 Free PMC article.
Exome sequencing and functional analyses suggest that SIX6 is a gene involved in an altered proliferation-differentiation balance early in life and optic nerve degeneration at old age.
Iglesias AI, Springelkamp H, van der Linde H, Severijnen LA, Amin N, Oostra B, Kockx CE, van den Hout MC, van Ijcken WF, Hofman A, Uitterlinden AG, Verdijk RM, Klaver CC, Willemsen R, van Duijn CM. Iglesias AI, et al. Among authors: kockx ce. Hum Mol Genet. 2014 Mar 1;23(5):1320-32. doi: 10.1093/hmg/ddt522. Epub 2013 Oct 22. Hum Mol Genet. 2014. PMID: 24150847
29 results