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Page 1
SOS1 Gain-of-Function Variants in Dilated Cardiomyopathy.
Cowan JR, Salyer L, Wright NT, Kinnamon DD, Amaya P, Jordan E, Bamshad MJ, Nickerson DA, Hershberger RE. Cowan JR, et al. Circ Genom Precis Med. 2020 Aug;13(4):e002892. doi: 10.1161/CIRCGEN.119.002892. Epub 2020 Jun 30. Circ Genom Precis Med. 2020. PMID: 32603605 Free PMC article.
Genetics and genomics for the prevention and treatment of cardiovascular disease: update: a scientific statement from the American Heart Association.
Ganesh SK, Arnett DK, Assimes TL, Basson CT, Chakravarti A, Ellinor PT, Engler MB, Goldmuntz E, Herrington DM, Hershberger RE, Hong Y, Johnson JA, Kittner SJ, McDermott DA, Meschia JF, Mestroni L, O'Donnell CJ, Psaty BM, Vasan RS, Ruel M, Shen WK, Terzic A, Waldman SA; American Heart Association Council on Functional Genomics and Translational Biology; American Heart Association Council on Epidemiology and Prevention; American Heart Association Council on Basic Cardiovascular Sciences; American Heart Association Council on Cardiovascular Disease in the Young; American Heart Association Council on Cardiovascular and Stroke Nursing; American Heart Association Stroke Council. Ganesh SK, et al. Circulation. 2013 Dec 24;128(25):2813-51. doi: 10.1161/01.cir.0000437913.98912.1d. Epub 2013 Dec 2. Circulation. 2013. PMID: 24297835 No abstract available.
Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy.
Norton N, Li D, Rampersaud E, Morales A, Martin ER, Zuchner S, Guo S, Gonzalez M, Hedges DJ, Robertson PD, Krumm N, Nickerson DA, Hershberger RE; National Heart, Lung, and Blood Institute GO Exome Sequencing Project and the Exome Sequencing Project Family Studies Project Team. Norton N, et al. Circ Cardiovasc Genet. 2013 Apr;6(2):144-53. doi: 10.1161/CIRCGENETICS.111.000062. Epub 2013 Feb 15. Circ Cardiovasc Genet. 2013. PMID: 23418287 Free PMC article.
Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.
Norton N, Robertson PD, Rieder MJ, Züchner S, Rampersaud E, Martin E, Li D, Nickerson DA, Hershberger RE; National Heart, Lung and Blood Institute GO Exome Sequencing Project. Norton N, et al. Circ Cardiovasc Genet. 2012 Apr 1;5(2):167-74. doi: 10.1161/CIRCGENETICS.111.961805. Epub 2012 Feb 15. Circ Cardiovasc Genet. 2012. PMID: 22337857 Free PMC article.
30 results