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Improving the diagnostic yield of exome- sequencing by predicting gene-phenotype associations using large-scale gene expression analysis.
Deelen P, van Dam S, Herkert JC, Karjalainen JM, Brugge H, Abbott KM, van Diemen CC, van der Zwaag PA, Gerkes EH, Zonneveld-Huijssoon E, Boer-Bergsma JJ, Folkertsma P, Gillett T, van der Velde KJ, Kanninga R, van den Akker PC, Jan SZ, Hoorntje ET, Te Rijdt WP, Vos YJ, Jongbloed JDH, van Ravenswaaij-Arts CMA, Sinke R, Sikkema-Raddatz B, Kerstjens-Frederikse WS, Swertz MA, Franke L. Deelen P, et al. Among authors: te rijdt wp. Nat Commun. 2019 Jun 28;10(1):2837. doi: 10.1038/s41467-019-10649-4. Nat Commun. 2019. PMID: 31253775 Free PMC article.
Phospholamban immunostaining is a highly sensitive and specific method for diagnosing phospholamban p.Arg14del cardiomyopathy.
Te Rijdt WP, van der Klooster ZJ, Hoorntje ET, Jongbloed JDH, van der Zwaag PA, Asselbergs FW, Dooijes D, de Boer RA, van Tintelen JP, van den Berg MP, Vink A, Suurmeijer AJH. Te Rijdt WP, et al. Cardiovasc Pathol. 2017 Sep-Oct;30:23-26. doi: 10.1016/j.carpath.2017.05.004. Epub 2017 May 30. Cardiovasc Pathol. 2017. PMID: 28759816 Free article.
Dyssynchronopathy Can be a Manifestation of Heritable Cardiomyopathy.
Te Rijdt WP, Hoedemaekers YM, Jongbloed JDH, Damman K, van der Zwaag PA, de Boer RA, Maass AH, van den Berg MP. Te Rijdt WP, et al. Circ Genom Precis Med. 2019 May;12(5):e002528. doi: 10.1161/CIRCGEN.119.002528. Circ Genom Precis Med. 2019. PMID: 31112419 No abstract available.
The first titin (c.59926 + 1G > A) founder mutation associated with dilated cardiomyopathy.
Hoorntje ET, van Spaendonck-Zwarts KY, Te Rijdt WP, Boven L, Vink A, van der Smagt JJ, Asselbergs FW, van Wijngaarden J, Hennekam EA, Pinto YM, Lekanne Deprez RH, Barge-Schaapveld DQCM, Bootsma M, Regieli J, Hoedemaekers YM, Jongbloed JDH, van den Berg MP, van Tintelen JP. Hoorntje ET, et al. Among authors: te rijdt wp. Eur J Heart Fail. 2018 Apr;20(4):803-806. doi: 10.1002/ejhf.1030. Epub 2017 Oct 23. Eur J Heart Fail. 2018. PMID: 29057560 Free PMC article. No abstract available.
Deciduous Teeth as an Alternative DNA Source for Postmortem Genetic Testing.
Te Rijdt WP, Mieremet RHP, Kraaijenbrink T, Regieli JJ, Lemmink HH, Jan SZ, de Knijff P, Hoedemaekers YM. Te Rijdt WP, et al. Circ Genom Precis Med. 2020 Apr;13(2):e002674. doi: 10.1161/CIRCGEN.119.002674. Epub 2020 Jan 31. Circ Genom Precis Med. 2020. PMID: 32003586 No abstract available.
Author Correction: The phospholamban p.(Arg14del) pathogenic variant leads to cardiomyopathy with heart failure and is unresponsive to standard heart failure therapy.
Eijgenraam TR, Boukens BJ, Boogerd CJ, Schouten EM, van de Kolk CWA, Stege NM, Te Rijdt WP, Hoorntje ET, van der Zwaag PA, van Rooij E, van Tintelen JP, van den Berg MP, van der Meer P, van der Velden J, Silljé HHW, de Boer RA. Eijgenraam TR, et al. Among authors: te rijdt wp. Sci Rep. 2020 Oct 2;10(1):16710. doi: 10.1038/s41598-020-70780-x. Sci Rep. 2020. PMID: 33009422 Free PMC article.
The phospholamban p.(Arg14del) pathogenic variant leads to cardiomyopathy with heart failure and is unreponsive to standard heart failure therapy.
Eijgenraam TR, Boukens BJ, Boogerd CJ, Schouten EM, van de Kolk CWA, Stege NM, Te Rijdt WP, Hoorntje ET, van der Zwaag PA, van Rooij E, van Tintelen JP, van den Berg MP, van der Meer P, van der Velden J, Silljé HHW, de Boer RA. Eijgenraam TR, et al. Among authors: te rijdt wp. Sci Rep. 2020 Jun 17;10(1):9819. doi: 10.1038/s41598-020-66656-9. Sci Rep. 2020. PMID: 32555305 Free PMC article.
24 results