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The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young.
Puckelwartz MJ, Pesce LL, Hernandez EJ, Webster G, Dellefave-Castillo LM, Russell MW, Geisler SS, Kearns SD, Karthik F, Etheridge SP, Monroe TO, Pottinger TD, Kannankeril PJ, Shoemaker MB, Fountain D, Roden DM, Faulkner M, MacLeod HM, Burns KM, Yandell M, Tristani-Firouzi M, George AL Jr, McNally EM. Puckelwartz MJ, et al. Genome Med. 2024 Jan 16;16(1):13. doi: 10.1186/s13073-024-01284-w. Genome Med. 2024. PMID: 38229148 Free PMC article.
Nesprin-1 mutations in human and murine cardiomyopathy.
Puckelwartz MJ, Kessler EJ, Kim G, Dewitt MM, Zhang Y, Earley JU, Depreux FF, Holaska J, Mewborn SK, Pytel P, McNally EM. Puckelwartz MJ, et al. J Mol Cell Cardiol. 2010 Apr;48(4):600-8. doi: 10.1016/j.yjmcc.2009.11.006. Epub 2009 Nov 24. J Mol Cell Cardiol. 2010. PMID: 19944109 Free PMC article.
Emery-Dreifuss muscular dystrophy.
Puckelwartz M, McNally EM. Puckelwartz M, et al. Handb Clin Neurol. 2011;101:155-66. doi: 10.1016/B978-0-08-045031-5.00012-8. Handb Clin Neurol. 2011. PMID: 21496632 Review.
Population-based variation in cardiomyopathy genes.
Golbus JR, Puckelwartz MJ, Fahrenbach JP, Dellefave-Castillo LM, Wolfgeher D, McNally EM. Golbus JR, et al. Among authors: puckelwartz mj. Circ Cardiovasc Genet. 2012 Aug 1;5(4):391-9. doi: 10.1161/CIRCGENETICS.112.962928. Epub 2012 Jul 4. Circ Cardiovasc Genet. 2012. PMID: 22763267 Free PMC article.
Genetic mutations and mechanisms in dilated cardiomyopathy.
McNally EM, Golbus JR, Puckelwartz MJ. McNally EM, et al. Among authors: puckelwartz mj. J Clin Invest. 2013 Jan;123(1):19-26. doi: 10.1172/JCI62862. Epub 2013 Jan 2. J Clin Invest. 2013. PMID: 23281406 Free PMC article. Review.
Supercomputing for the parallelization of whole genome analysis.
Puckelwartz MJ, Pesce LL, Nelakuditi V, Dellefave-Castillo L, Golbus JR, Day SM, Cappola TP, Dorn GW 2nd, Foster IT, McNally EM. Puckelwartz MJ, et al. Bioinformatics. 2014 Jun 1;30(11):1508-13. doi: 10.1093/bioinformatics/btu071. Epub 2014 Feb 12. Bioinformatics. 2014. PMID: 24526712 Free PMC article.
Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy.
Golbus JR, Puckelwartz MJ, Dellefave-Castillo L, Fahrenbach JP, Nelakuditi V, Pesce LL, Pytel P, McNally EM. Golbus JR, et al. Among authors: puckelwartz mj. Circ Cardiovasc Genet. 2014 Dec;7(6):751-759. doi: 10.1161/CIRCGENETICS.113.000578. Epub 2014 Sep 1. Circ Cardiovasc Genet. 2014. PMID: 25179549 Free PMC article.
60 results