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Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy.
van Tintelen JP, Entius MM, Bhuiyan ZA, Jongbloed R, Wiesfeld AC, Wilde AA, van der Smagt J, Boven LG, Mannens MM, van Langen IM, Hofstra RM, Otterspoor LC, Doevendans PA, Rodriguez LM, van Gelder IC, Hauer RN. van Tintelen JP, et al. Among authors: hofstra rm. Circulation. 2006 Apr 4;113(13):1650-8. doi: 10.1161/CIRCULATIONAHA.105.609719. Epub 2006 Mar 27. Circulation. 2006. PMID: 16567567
Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene.
van Tintelen JP, Van Gelder IC, Asimaki A, Suurmeijer AJ, Wiesfeld AC, Jongbloed JD, van den Wijngaard A, Kuks JB, van Spaendonck-Zwarts KY, Notermans N, Boven L, van den Heuvel F, Veenstra-Knol HE, Saffitz JE, Hofstra RM, van den Berg MP. van Tintelen JP, et al. Among authors: hofstra rm. Heart Rhythm. 2009 Nov;6(11):1574-83. doi: 10.1016/j.hrthm.2009.07.041. Epub 2009 Jul 28. Heart Rhythm. 2009. PMID: 19879535
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: hofstra rm. 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.
Recurrent and founder mutations in the Netherlands : Plakophilin-2 p.Arg79X mutation causing arrhythmogenic right ventricular cardiomyopathy/dysplasia.
van der Zwaag PA, Cox MG, van der Werf C, Wiesfeld AC, Jongbloed JD, Dooijes D, Bikker H, Jongbloed R, Suurmeijer AJ, van den Berg MP, Hofstra RM, Hauer RN, Wilde AA, van Tintelen JP. van der Zwaag PA, et al. Among authors: hofstra rm. Neth Heart J. 2010 Dec;18(12):583-91. doi: 10.1007/s12471-010-0839-5. Neth Heart J. 2010. PMID: 21301620 Free PMC article.
Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy.
Almomani R, Verhagen JM, Herkert JC, Brosens E, van Spaendonck-Zwarts KY, Asimaki A, van der Zwaag PA, Frohn-Mulder IM, Bertoli-Avella AM, Boven LG, van Slegtenhorst MA, van der Smagt JJ, van IJcken WF, Timmer B, van Stuijvenberg M, Verdijk RM, Saffitz JE, du Plessis FA, Michels M, Hofstra RM, Sinke RJ, van Tintelen JP, Wessels MW, Jongbloed JD, van de Laar IM. Almomani R, et al. Among authors: hofstra rm. J Am Coll Cardiol. 2016 Feb 9;67(5):515-25. doi: 10.1016/j.jacc.2015.10.093. J Am Coll Cardiol. 2016. PMID: 26846950 Free article.
Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathy.
Verhagen JMA, Veldman JH, van der Zwaag PA, von der Thüsen JH, Brosens E, Christiaans I, Dooijes D, Helderman-van den Enden ATJM, Lekanne Deprez RH, Michels M, van Mil AM, Oldenburg RA, van der Smagt JJ, van den Wijngaard A, Wessels MW, Hofstra RMW, van Slegtenhorst MA, Jongbloed JDH, van de Laar IMBH. Verhagen JMA, et al. Eur J Hum Genet. 2018 Nov;26(11):1603-1610. doi: 10.1038/s41431-018-0208-1. Epub 2018 Jul 9. Eur J Hum Genet. 2018. PMID: 29988065 Free PMC article.
Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP.
MacKenzie KC, de Graaf BM, Syrimis A, Zhao Y, Brosens E, Mancini GMS, Schot R, Halley D, Wilke M, Vøllo A, Flinter F, Green A, Mansour S, Pilch J, Stark Z, Zamba-Papanicolaou E, Christophidou-Anastasiadou V, Hofstra RMW, Jongbloed JDH, Nicolaou N, Tanteles GA, Brooks AS, Alves MM. MacKenzie KC, et al. Hum Mutat. 2020 Nov;41(11):1906-1917. doi: 10.1002/humu.24097. Epub 2020 Sep 16. Hum Mutat. 2020. PMID: 32939943 Free PMC article.
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: hofstra rm. Clin Genet. 2011 May;79(5):459-67. doi: 10.1111/j.1399-0004.2010.01472.x. Clin Genet. 2011. PMID: 20573160
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