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Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
Walsh R, Lahrouchi N, Tadros R, Kyndt F, Glinge C, Postema PG, Amin AS, Nannenberg EA, Ware JS, Whiffin N, Mazzarotto F, Škorić-Milosavljević D, Krijger C, Arbelo E, Babuty D, Barajas-Martinez H, Beckmann BM, Bézieau S, Bos JM, Breckpot J, Campuzano O, Castelletti S, Celen C, Clauss S, Corveleyn A, Crotti L, Dagradi F, de Asmundis C, Denjoy I, Dittmann S, Ellinor PT, Ortuño CG, Giustetto C, Gourraud JB, Hazeki D, Horie M, Ishikawa T, Itoh H, Kaneko Y, Kanters JK, Kimoto H, Kotta MC, Krapels IPC, Kurabayashi M, Lazarte J, Leenhardt A, Loeys BL, Lundin C, Makiyama T, Mansourati J, Martins RP, Mazzanti A, Mörner S, Napolitano C, Ohkubo K, Papadakis M, Rudic B, Molina MS, Sacher F, Sahin H, Sarquella-Brugada G, Sebastiano R, Sharma S, Sheppard MN, Shimamoto K, Shoemaker MB, Stallmeyer B, Steinfurt J, Tanaka Y, Tester DJ, Usuda K, van der Zwaag PA, Van Dooren S, Van Laer L, Winbo A, Winkel BG, Yamagata K, Zumhagen S, Volders PGA, Lubitz SA, Antzelevitch C, Platonov PG, Odening KE, Roden DM, Roberts JD, Skinner JR, Tfelt-Hansen J, van den Berg MP, Olesen MS, Lambiase PD, Borggrefe M, Hayashi K, Rydberg A, Nakajima T, Yoshinaga M, Saenen JB, Kääb S, Brugada P,… See abstract for full author list ➔ Walsh R, et al. Among authors: van den berg mp, van dooren s, van laer l, van der zwaag pa. Genet Med. 2021 Jan;23(1):47-58. doi: 10.1038/s41436-020-00946-5. Epub 2020 Sep 7. Genet Med. 2021. PMID: 32893267 Free PMC article.
Letter regarding the article: "R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy" by Valenzise et al.
van der Zwaag PA, Jongbloed JD, van den Berg MP, Jonkman MF, van Tintelen JP. van der Zwaag PA, et al. Among authors: van den berg mp, van tintelen jp. Eur J Med Genet. 2009 Jul-Aug;52(4):277. doi: 10.1016/j.ejmg.2009.01.003. Epub 2009 Feb 3. Eur J Med Genet. 2009. PMID: 19450441 No abstract available.
Haplotype sharing test maps genes for familial cardiomyopathies.
van der Zwaag PA, van Tintelen JP, Gerbens F, Jongbloed JD, Boven LG, van der Smagt JJ, van der Roest WP, van Langen IM, Bikker H, Hauer RN, van den Berg MP, Hofstra RM, te Meerman GJ. van der Zwaag PA, et al. Among authors: van der roest wp, van den berg mp, van langen im, van der smagt jj, van tintelen jp. Clin Genet. 2011 May;79(5):459-67. doi: 10.1111/j.1399-0004.2010.01472.x. Clin Genet. 2011. PMID: 20573160
Recurrent and founder mutations in the Netherlands-Phospholamban p.Arg14del mutation causes arrhythmogenic cardiomyopathy.
van der Zwaag PA, van Rijsingen IA, de Ruiter R, Nannenberg EA, Groeneweg JA, Post JG, Hauer RN, van Gelder IC, van den Berg MP, van der Harst P, Wilde AA, van Tintelen JP. van der Zwaag PA, et al. Among authors: van rijsingen ia, van den berg mp, van der harst p, van gelder ic, van tintelen jp. Neth Heart J. 2013 Jun;21(6):286-93. doi: 10.1007/s12471-013-0401-3. Neth Heart J. 2013. PMID: 23568436 Free PMC article.
Outcome in phospholamban R14del carriers: results of a large multicentre cohort study.
van Rijsingen IA, van der Zwaag PA, Groeneweg JA, Nannenberg EA, Jongbloed JD, Zwinderman AH, Pinto YM, Dit Deprez RH, Post JG, Tan HL, de Boer RA, Hauer RN, Christiaans I, van den Berg MP, van Tintelen JP, Wilde AA. van Rijsingen IA, et al. Among authors: van den berg mp, van der zwaag pa, van tintelen jp. Circ Cardiovasc Genet. 2014 Aug;7(4):455-65. doi: 10.1161/CIRCGENETICS.113.000374. Epub 2014 Jun 8. Circ Cardiovasc Genet. 2014. PMID: 24909667
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. Among authors: van den berg mp, van der klooster zj, van der zwaag pa, van tintelen jp. 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.
Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy.
Herkert JC, Abbott KM, Birnie E, Meems-Veldhuis MT, Boven LG, Benjamins M, du Marchie Sarvaas GJ, Barge-Schaapveld DQCM, van Tintelen JP, van der Zwaag PA, Vos YJ, Sinke RJ, van den Berg MP, van Langen IM, Jongbloed JDH. Herkert JC, et al. Among authors: van den berg mp, van langen im, van der zwaag pa, van tintelen jp. Genet Med. 2018 Nov;20(11):1374-1386. doi: 10.1038/gim.2018.9. Epub 2018 Mar 8. Genet Med. 2018. PMID: 29517769 Free article.
Effect of Ascertainment Bias on Estimates of Patient Mortality in Inherited Cardiac Diseases.
Nannenberg EA, van Rijsingen IAW, van der Zwaag PA, van den Berg MP, van Tintelen JP, Tanck MWT, Ackerman MJ, Wilde AAM, Christiaans I. Nannenberg EA, et al. Among authors: van den berg mp, van rijsingen iaw, van der zwaag pa, van tintelen jp. Circ Genom Precis Med. 2018 Oct;11(10):e001797. doi: 10.1161/CIRCGEN.117.001797. Circ Genom Precis Med. 2018. PMID: 30354299
Distinct molecular signature of phospholamban p.Arg14del arrhythmogenic cardiomyopathy.
Te Rijdt WP, Asimaki A, Jongbloed JDH, Hoorntje ET, Lazzarini E, van der Zwaag PA, de Boer RA, van Tintelen JP, Saffitz JE, van den Berg MP, Suurmeijer AJH. Te Rijdt WP, et al. Among authors: van den berg mp, van der zwaag pa, van tintelen jp. Cardiovasc Pathol. 2019 May-Jun;40:2-6. doi: 10.1016/j.carpath.2018.12.006. Epub 2018 Dec 21. Cardiovasc Pathol. 2019. PMID: 30763825
60 results