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Page 1
Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization.
van der Velde KJ, Kuiper J, Thompson BA, Plazzer JP, van Valkenhoef G, de Haan M, Jongbloed JD, Wijmenga C, de Koning TJ, Abbott KM, Sinke R, Spurdle AB, Macrae F, Genuardi M, Sijmons RH, Swertz MA; InSiGHT Group. van der Velde KJ, et al. Among authors: jongbloed jd. Hum Mutat. 2015 Jul;36(7):712-9. doi: 10.1002/humu.22798. Epub 2015 May 20. Hum Mutat. 2015. PMID: 25871441 Free PMC article.
Untargeted Metabolomics Identifies Potential Hypertrophic Cardiomyopathy Biomarkers in Carriers of MYBPC3 Founder Variants.
Jansen M, Schuldt M, van Driel BO, Schmidt AF, Christiaans I, van der Crabben SN, Hoedemaekers YM, Dooijes D, Jongbloed JDH, Boven LG, Deprez RHL, Wilde AAM, Jans JJM, van der Velden J, de Boer RA, van Tintelen JP, Asselbergs FW, Baas AF. Jansen M, et al. Among authors: jongbloed jdh. Int J Mol Sci. 2023 Feb 17;24(4):4031. doi: 10.3390/ijms24044031. Int J Mol Sci. 2023. PMID: 36835444 Free PMC article.
Circulating Acylcarnitines Associated with Hypertrophic Cardiomyopathy Severity: an Exploratory Cross-Sectional Study in MYBPC3 Founder Variant Carriers.
Jansen M, Schmidt AF, Jans JJM, Christiaans I, van der Crabben SN, Hoedemaekers YM, Dooijes D, Jongbloed JDH, Boven LG, Lekanne Deprez RH, Wilde AAM, van der Velden J, de Boer RA, van Tintelen JP, Asselbergs FW, Baas AF. Jansen M, et al. Among authors: jongbloed jdh. J Cardiovasc Transl Res. 2023 Dec;16(6):1267-1275. doi: 10.1007/s12265-023-10398-2. Epub 2023 Jun 6. J Cardiovasc Transl Res. 2023. PMID: 37278928 Free PMC article.
Clinical utility gene card for: dilated cardiomyopathy (CMD).
Posafalvi A, Herkert JC, Sinke RJ, van den Berg MP, Mogensen J, Jongbloed JD, van Tintelen JP. Posafalvi A, et al. Among authors: jongbloed jd. Eur J Hum Genet. 2013 Oct;21(10). doi: 10.1038/ejhg.2012.276. Epub 2012 Dec 19. Eur J Hum Genet. 2013. PMID: 23249954 Free PMC article. No abstract available.
Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics.
Sikkema-Raddatz B, Johansson LF, de Boer EN, Almomani R, Boven LG, van den Berg MP, van Spaendonck-Zwarts KY, van Tintelen JP, Sijmons RH, Jongbloed JD, Sinke RJ. Sikkema-Raddatz B, et al. Among authors: jongbloed jd. Hum Mutat. 2013 Jul;34(7):1035-42. doi: 10.1002/humu.22332. Epub 2013 Apr 29. Hum Mutat. 2013. PMID: 23568810
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: jongbloed jd. 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: jongbloed jd. 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.
117 results