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Best practice guidelines for the use of next-generation sequencing applications in genome diagnostics: a national collaborative study of Dutch genome diagnostic laboratories.
Weiss MM, Van der Zwaag B, Jongbloed JD, Vogel MJ, Brüggenwirth HT, Lekanne Deprez RH, Mook O, Ruivenkamp CA, van Slegtenhorst MA, van den Wijngaard A, Waisfisz Q, Nelen MR, van der Stoep N. Weiss MM, et al. Among authors: van slegtenhorst ma, van der zwaag b, van der stoep n, van den wijngaard a. Hum Mutat. 2013 Oct;34(10):1313-21. doi: 10.1002/humu.22368. Epub 2013 Aug 19. Hum Mutat. 2013. PMID: 23776008 Review.
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: van den hout mc, van eyndhoven w, van workum w, van tienhoven m, van ijcken wf, van der zwaag b, van hove s, van slegtenhorst m, van der stoep n, van den wijngaard a. 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: van den hout mc, van eyndhoven w, van workum w, van tienhoven m, van ijcken wf, van der zwaag b, van hove s, van slegtenhorst m, van der stoep n, van den wijngaard a. 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.
High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect.
Lemmers RJLF, van der Vliet PJ, Granado DSL, van der Stoep N, Buermans H, van Schendel R, Schimmel J, de Visser M, van Coster R, Jeanpierre M, Laforet P, Upadhyaya M, van Engelen B, Sacconi S, Tawil R, Voermans NC, Rogers M, van der Maarel SM. Lemmers RJLF, et al. Among authors: van der maarel sm, van engelen b, van coster r, van schendel r, van der stoep n, van der vliet pj. Hum Mol Genet. 2022 Mar 3;31(5):748-760. doi: 10.1093/hmg/ddab250. Hum Mol Genet. 2022. PMID: 34559225 Free PMC article.
Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.
Potjer TP, Bollen S, Grimbergen AJEM, van Doorn R, Gruis NA, van Asperen CJ, Hes FJ, van der Stoep N; Dutch Working Group for Clinical Oncogenetics. Potjer TP, et al. Among authors: van asperen cj, van doorn r, van der stoep n. Int J Cancer. 2019 May 15;144(10):2453-2464. doi: 10.1002/ijc.31984. Epub 2019 Jan 21. Int J Cancer. 2019. PMID: 30414346 Free PMC article.
Association between a 46-SNP Polygenic Risk Score and melanoma risk in Dutch patients with familial melanoma.
Potjer TP, van der Grinten TWJ, Lakeman IMM, Bollen SH, Rodríguez-Girondo M, Iles MM, Barrett JH, Kiemeney LA, Gruis NA, van Asperen CJ, van der Stoep N. Potjer TP, et al. Among authors: van asperen cj, van der grinten twj, van der stoep n. J Med Genet. 2021 Nov;58(11):760-766. doi: 10.1136/jmedgenet-2020-107251. Epub 2020 Sep 29. J Med Genet. 2021. PMID: 32994281 Free PMC article.
Facioscapulohumeral muscular dystrophy-Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease.
Vincenten SCC, Van Der Stoep N, Paulussen ADC, Mul K, Badrising UA, Kriek M, Van Der Heijden OWH, Van Engelen BGM, Voermans NC, De Die-Smulders CEM, Lassche S. Vincenten SCC, et al. Among authors: van der heijden owh, van engelen bgm, van der stoep n. Clin Genet. 2022 Feb;101(2):149-160. doi: 10.1111/cge.14031. Epub 2021 Aug 1. Clin Genet. 2022. PMID: 34297364 Free PMC article. Review.
Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2.
van den Boogaard ML, Lemmers RJ, Camaño P, van der Vliet PJ, Voermans N, van Engelen BG, Lopez de Munain A, Tapscott SJ, van der Stoep N, Tawil R, van der Maarel SM. van den Boogaard ML, et al. Among authors: van der maarel sm, van engelen bg, van der stoep n, van der vliet pj. Eur J Hum Genet. 2016 Jan;24(1):78-85. doi: 10.1038/ejhg.2015.55. Epub 2015 Mar 18. Eur J Hum Genet. 2016. PMID: 25782668 Free PMC article.
99 results