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Return of genetic results in the familial dilated cardiomyopathy research project.
Siegfried JD, Morales A, Kushner JD, Burkett E, Cowan J, Mauro AC, Huggins GS, Li D, Norton N, Hershberger RE. Siegfried JD, et al. Among authors: norton n. J Genet Couns. 2013 Apr;22(2):164-74. doi: 10.1007/s10897-012-9532-8. Epub 2012 Aug 11. J Genet Couns. 2013. PMID: 22886719 Free PMC article.
Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy.
Norton N, Li D, Rieder MJ, Siegfried JD, Rampersaud E, Züchner S, Mangos S, Gonzalez-Quintana J, Wang L, McGee S, Reiser J, Martin E, Nickerson DA, Hershberger RE. Norton N, et al. Am J Hum Genet. 2011 Mar 11;88(3):273-82. doi: 10.1016/j.ajhg.2011.01.016. Epub 2011 Feb 25. Am J Hum Genet. 2011. PMID: 21353195 Free PMC article.
Functional characterization of TNNC1 rare variants identified in dilated cardiomyopathy.
Pinto JR, Siegfried JD, Parvatiyar MS, Li D, Norton N, Jones MA, Liang J, Potter JD, Hershberger RE. Pinto JR, et al. Among authors: norton n. J Biol Chem. 2011 Sep 30;286(39):34404-12. doi: 10.1074/jbc.M111.267211. Epub 2011 Aug 5. J Biol Chem. 2011. PMID: 21832052 Free PMC article.
Here, we report the clinical, genetic, and functional characterization of four TNNC1 rare variants (Y5H, M103I, D145E, and I148V), all previously reported by us in association with DCM (Hershberger, R. E., Norton, N., Morales, A., Li, D., Siegfried, J. D., and Gonza …
Here, we report the clinical, genetic, and functional characterization of four TNNC1 rare variants (Y5H, M103I, D145E, and I148V), all previ …
263 results