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Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.
Kelly MA, Caleshu C, Morales A, Buchan J, Wolf Z, Harrison SM, Cook S, Dillon MW, Garcia J, Haverfield E, Jongbloed JDH, Macaya D, Manrai A, Orland K, Richard G, Spoonamore K, Thomas M, Thomson K, Vincent LM, Walsh R, Watkins H, Whiffin N, Ingles J, van Tintelen JP, Semsarian C, Ware JS, Hershberger R, Funke B. Kelly MA, et al. Among authors: van tintelen jp. Genet Med. 2018 Mar;20(3):351-359. doi: 10.1038/gim.2017.218. Epub 2018 Jan 4. Genet Med. 2018. PMID: 29300372 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.
Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks.
Otten E, Asimaki A, Maass A, van Langen IM, van der Wal A, de Jonge N, van den Berg MP, Saffitz JE, Wilde AA, Jongbloed JD, van Tintelen JP. Otten E, et al. Among authors: van der wal a, van den berg mp, van langen im, van tintelen jp. Heart Rhythm. 2010 Aug;7(8):1058-64. doi: 10.1016/j.hrthm.2010.04.023. Epub 2010 Apr 24. Heart Rhythm. 2010. PMID: 20423733
Peripartum cardiomyopathy as a part of familial dilated cardiomyopathy.
van Spaendonck-Zwarts KY, van Tintelen JP, van Veldhuisen DJ, van der Werf R, Jongbloed JD, Paulus WJ, Dooijes D, van den Berg MP. van Spaendonck-Zwarts KY, et al. Among authors: van den berg mp, van tintelen jp, van der werf r, van veldhuisen dj. Circulation. 2010 May 25;121(20):2169-75. doi: 10.1161/CIRCULATIONAHA.109.929646. Epub 2010 May 10. Circulation. 2010. PMID: 20458010
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
Desmin-related myopathy.
van Spaendonck-Zwarts KY, van Hessem L, Jongbloed JD, de Walle HE, Capetanaki Y, van der Kooi AJ, van Langen IM, van den Berg MP, van Tintelen JP. van Spaendonck-Zwarts KY, et al. Among authors: van der kooi aj, van den berg mp, van hessem l, van langen im, van tintelen jp. Clin Genet. 2011 Oct;80(4):354-66. doi: 10.1111/j.1399-0004.2010.01512.x. Epub 2010 Jul 21. Clin Genet. 2011. PMID: 20718792 Review.
234 results