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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: jongbloed jdh. 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.
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. 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. 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. 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.
116 results