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Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.
Glessner JT, Bick AG, Ito K, Homsy J, Rodriguez-Murillo L, Fromer M, Mazaika E, Vardarajan B, Italia M, Leipzig J, DePalma SR, Golhar R, Sanders SJ, Yamrom B, Ronemus M, Iossifov I, Willsey AJ, State MW, Kaltman JR, White PS, Shen Y, Warburton D, Brueckner M, Seidman C, Goldmuntz E, Gelb BD, Lifton R, Seidman J, Hakonarson H, Chung WK. Glessner JT, et al. Among authors: seidman j, seidman c. Circ Res. 2014 Oct 24;115(10):884-896. doi: 10.1161/CIRCRESAHA.115.304458. Epub 2014 Sep 9. Circ Res. 2014. PMID: 25205790 Free PMC article. Clinical Trial.
Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations.
Watkins H, Thierfelder L, Hwang DS, McKenna W, Seidman JG, Seidman CE. Watkins H, et al. Among authors: seidman jg, seidman ce. J Clin Invest. 1992 Nov;90(5):1666-71. doi: 10.1172/JCI116038. J Clin Invest. 1992. PMID: 1430197 Free PMC article.
Familial hypertrophic cardiomyopathy is a genetically heterogeneous disease.
Solomon SD, Jarcho JA, McKenna W, Geisterfer-Lowrance A, Germain R, Salerni R, Seidman JG, Seidman CE. Solomon SD, et al. Among authors: seidman jg, seidman ce. J Clin Invest. 1990 Sep;86(3):993-9. doi: 10.1172/JCI114802. J Clin Invest. 1990. PMID: 1975599 Free PMC article.
591 results