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Common- and rare-variant genetic architecture of heart failure across the allele frequency spectrum.
Lee DSM, Cardone KM, Zhang DY, Abramowitz S, DePaolo JS, Aragam KG, Biddinger K, Conery M, Dilitikas O, Hoffman-Andrews L, Judy RL, Khan A, Kulo I, Puckelwartz MJ, Reza N, Satterfield BA, Singhal P; Regeneron Genetics Center; Arany ZP, Cappola TP, Carruth E, Day SM, Do R, Haggarty CM, Joseph J, McNally E, Nadkarni G, Owens AT, Rader DJ, Ritchie MD, Sun Y, Voight BF, Levin MG, Damrauer SM. Lee DSM, et al. Among authors: puckelwartz mj. medRxiv [Preprint]. 2023 Oct 2:2023.07.16.23292724. doi: 10.1101/2023.07.16.23292724. medRxiv. 2023. PMID: 37503172 Free PMC article. Preprint.
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.
59 results