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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. 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.
A novel autosomal dominant condition consisting of congenital heart defects and low atrial rhythm maps to chromosome 9q.
van de Meerakker JB, van Engelen K, Mathijssen IB, Lekanne dit Deprez RH, Lam J, Wilde AA, Baars MJ, Mannens MM, Mulder BJ, Moorman AF, Postma AV. van de Meerakker JB, et al. Among authors: lekanne dit deprez rh. Eur J Hum Genet. 2011 Jul;19(7):820-6. doi: 10.1038/ejhg.2011.33. Epub 2011 Mar 9. Eur J Hum Genet. 2011. PMID: 21386876 Free PMC article.
Gene symbol: GLA.
Spanu C, Lekanne dit Deprez RH, Groener JE, Nita CC. Spanu C, et al. Among authors: lekanne dit deprez rh. Hum Genet. 2007 Apr;121(2):295. Hum Genet. 2007. PMID: 17598215 No abstract available.
Recurrent and founder mutations in the Netherlands: mutation p.K217del in troponin T2, causing dilated cardiomyopathy.
Otten E, Lekanne Dit Deprez RH, Weiss MM, van Slegtenhorst M, Joosten M, van der Smagt JJ, de Jonge N, Kerstjens-Frederikse WS, Roofthooft MT, Balk AH, van den Berg MP, Ruiter JS, van Tintelen JP. Otten E, et al. Among authors: lekanne dit deprez rh. Neth Heart J. 2010 Oct;18(10):478-85. doi: 10.1007/BF03091819. Neth Heart J. 2010. PMID: 20978592 Free PMC article.
Lamin A/C mutation is independently associated with an increased risk of arterial and venous thromboembolic complications.
van Rijsingen IA, Bakker A, Azim D, Hermans-van Ast JF, van der Kooi AJ, van Tintelen JP, van den Berg MP, Christiaans I, Lekanne Dit Deprez RH, Wilde AA, Zwinderman AH, Meijers JC, Grootemaat AE, Nieuwland R, Pinto YM, Pinto-Sietsma SJ. van Rijsingen IA, et al. Among authors: lekanne dit deprez rh. Int J Cardiol. 2013 Sep 20;168(1):472-7. doi: 10.1016/j.ijcard.2012.09.118. Epub 2012 Oct 14. Int J Cardiol. 2013. PMID: 23073275 Free article.
Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy.
van der Zwaag PA, van Rijsingen IA, Asimaki A, Jongbloed JD, van Veldhuisen DJ, Wiesfeld AC, Cox MG, van Lochem LT, de Boer RA, Hofstra RM, Christiaans I, van Spaendonck-Zwarts KY, Lekanne dit Deprez RH, Judge DP, Calkins H, Suurmeijer AJ, Hauer RN, Saffitz JE, Wilde AA, van den Berg MP, van Tintelen JP. van der Zwaag PA, et al. Among authors: lekanne dit deprez rh. Eur J Heart Fail. 2012 Nov;14(11):1199-207. doi: 10.1093/eurjhf/hfs119. Epub 2012 Jul 20. Eur J Heart Fail. 2012. PMID: 22820313 Free PMC article.
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