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Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes.
Flannick J, Beer NL, Bick AG, Agarwala V, Molnes J, Gupta N, Burtt NP, Florez JC, Meigs JB, Taylor H, Lyssenko V, Irgens H, Fox E, Burslem F, Johansson S, Brosnan MJ, Trimmer JK, Newton-Cheh C, Tuomi T, Molven A, Wilson JG, O'Donnell CJ, Kathiresan S, Hirschhorn JN, Njølstad PR, Rolph T, Seidman JG, Gabriel S, Cox DR, Seidman CE, Groop L, Altshuler D. Flannick J, et al. Among authors: seidman jg, seidman ce. Nat Genet. 2013 Nov;45(11):1380-5. doi: 10.1038/ng.2794. Epub 2013 Oct 6. Nat Genet. 2013. PMID: 24097065 Free PMC article.
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.
514 results