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Page 1
Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy.
Almomani R, Herkert JC, Posafalvi A, Post JG, Boven LG, van der Zwaag PA, Willems PHGM, van Veen-Hof IH, Verhagen JMA, Wessels MW, Nikkels PGJ, Wintjes LT, van den Berg MP, Sinke RJ, Rodenburg RJ, Niezen-Koning KE, van Tintelen JP, Jongbloed JDH. Almomani R, et al. Among authors: posafalvi a. J Med Genet. 2020 Jan;57(1):23-30. doi: 10.1136/jmedgenet-2019-106330. Epub 2019 Sep 7. J Med Genet. 2020. PMID: 31494578
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. 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.
Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy.
van Spaendonck-Zwarts KY, Posafalvi A, van den Berg MP, Hilfiker-Kleiner D, Bollen IA, Sliwa K, Alders M, Almomani R, van Langen IM, van der Meer P, Sinke RJ, van der Velden J, Van Veldhuisen DJ, van Tintelen JP, Jongbloed JD. van Spaendonck-Zwarts KY, et al. Among authors: posafalvi a. Eur Heart J. 2014 Aug 21;35(32):2165-73. doi: 10.1093/eurheartj/ehu050. Epub 2014 Feb 20. Eur Heart J. 2014. PMID: 24558114
Diagnostic yield of targeted next generation sequencing in 2002 Dutch cardiomyopathy patients.
Alimohamed MZ, Johansson LF, Posafalvi A, Boven LG, van Dijk KK, Walters L, Vos YJ, Westers H, Hoedemaekers YM, Sinke RJ, Sijmons RH, Sikkema-Raddatz B, Jongbloed JDH, van der Zwaag PA. Alimohamed MZ, et al. Among authors: posafalvi a. Int J Cardiol. 2021 Jun 1;332:99-104. doi: 10.1016/j.ijcard.2021.02.069. Epub 2021 Mar 1. Int J Cardiol. 2021. PMID: 33662488 Free article.
No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy.
Hoorntje ET, Posafalvi A, Syrris P, van der Velde KJ, Bolling MC, Protonotarios A, Boven LG, Amat-Codina N, Groeneweg JA, Wilde AA, Sobreira N, Calkins H, Hauer RNW, Jonkman MF, McKenna WJ, Elliott PM, Sinke RJ, van den Berg MP, Chelko SP, James CA, van Tintelen JP, Judge DP, Jongbloed JDH. Hoorntje ET, et al. Among authors: posafalvi a. PLoS One. 2018 Aug 30;13(8):e0203078. doi: 10.1371/journal.pone.0203078. eCollection 2018. PLoS One. 2018. PMID: 30161220 Free PMC article.
Loss-of-function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype.
Maruthappu T, Posafalvi A, Castelletti S, Delaney PJ, Syrris P, O'Toole EA, Green KJ, Elliott PM, Lambiase PD, Tinker A, McKenna WJ, Kelsell DP. Maruthappu T, et al. Among authors: posafalvi a. Br J Dermatol. 2019 May;180(5):1114-1122. doi: 10.1111/bjd.17388. Epub 2019 Jan 2. Br J Dermatol. 2019. PMID: 30382575 Free PMC article.