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Page 1
Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations.
Lennon NJ, Kottyan LC, Kachulis C, Abul-Husn NS, Arias J, Belbin G, Below JE, Berndt SI, Chung WK, Cimino JJ, Clayton EW, Connolly JJ, Crosslin DR, Dikilitas O, Velez Edwards DR, Feng Q, Fisher M, Freimuth RR, Ge T; GIANT Consortium; All of Us Research Program; Glessner JT, Gordon AS, Patterson C, Hakonarson H, Harden M, Harr M, Hirschhorn JN, Hoggart C, Hsu L, Irvin MR, Jarvik GP, Karlson EW, Khan A, Khera A, Kiryluk K, Kullo I, Larkin K, Limdi N, Linder JE, Loos RJF, Luo Y, Malolepsza E, Manolio TA, Martin LJ, McCarthy L, McNally EM, Meigs JB, Mersha TB, Mosley JD, Musick A, Namjou B, Pai N, Pesce LL, Peters U, Peterson JF, Prows CA, Puckelwartz MJ, Rehm HL, Roden DM, Rosenthal EA, Rowley R, Sawicki KT, Schaid DJ, Smit RAJ, Smith JL, Smoller JW, Thomas M, Tiwari H, Toledo DM, Vaitinadin NS, Veenstra D, Walunas TL, Wang Z, Wei WQ, Weng C, Wiesner GL, Yin X, Kenny EE. Lennon NJ, et al. Among authors: puckelwartz mj. Nat Med. 2024 Feb;30(2):480-487. doi: 10.1038/s41591-024-02796-z. Epub 2024 Feb 19. Nat Med. 2024. PMID: 38374346 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.
56 results