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Page 1
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: mcnally e. medRxiv [Preprint]. 2023 Oct 2:2023.07.16.23292724. doi: 10.1101/2023.07.16.23292724. medRxiv. 2023. PMID: 37503172 Free PMC article. Preprint.
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, Etheridge FK, Etheridge SP, Monroe TO, Pottinger TD, Kannankeril PJ, Shoemaker MB, Fountain D, Roden DM, MacLeod H, Burns KM, Yandell M, Tristani-Firouzi M, George AL, McNally EM. Puckelwartz MJ, et al. medRxiv [Preprint]. 2023 Mar 29:2023.03.27.23287711. doi: 10.1101/2023.03.27.23287711. medRxiv. 2023. PMID: 37034657 Free PMC article. Updated. Preprint.
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. Among authors: mcnally em. Genome Med. 2024 Jan 16;16(1):13. doi: 10.1186/s13073-024-01284-w. Genome Med. 2024. PMID: 38229148 Free PMC article.
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: mcnally em. 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.
Genetic sex validation for sample tracking in next-generation sequencing clinical testing.
Hu J, Korchina V, Zouk H, Harden MV, Murdock D, Macbeth A, Harrison SM, Lennon N, Kovar C, Balasubramanian A, Zhang L, Chandanavelli G, Pasham D, Rowley R, Wiley K, Smith ME, Gordon A, Jarvik GP, Sleiman P, Kelly MA, Bland HT, Murugan M, Venner E, Boerwinkle E; eMERGE III consortium; Prows C, Mahanta L, Rehm HL, Gibbs RA, Muzny DM. Hu J, et al. BMC Res Notes. 2024 Mar 3;17(1):62. doi: 10.1186/s13104-024-06723-w. BMC Res Notes. 2024. PMID: 38433186 Free PMC article.
Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.
eMERGE Consortium. Electronic address: agibbs@bcm.edu; eMERGE Consortium. eMERGE Consortium. Electronic address: agibbs@bcm.edu, et al. Am J Hum Genet. 2019 Sep 5;105(3):588-605. doi: 10.1016/j.ajhg.2019.07.018. Epub 2019 Aug 22. Am J Hum Genet. 2019. PMID: 31447099 Free PMC article.
Susceptibility to innate immune activation in genetically-mediated myocarditis.
Selgrade DF, Fullenkamp DE, Chychula IA, Li B, Dellefave-Castillo L, Dubash AD, Ohiri J, Monroe TO, Blancard M, Tomar G, Holgren C, Burridge PW, George AL Jr, Demonbreun AR, Puckelwartz M, George SA, Efimov IR, Green KJ, McNally EM. Selgrade DF, et al. Among authors: mcnally em. J Clin Invest. 2024 May 16:e180254. doi: 10.1172/JCI180254. Online ahead of print. J Clin Invest. 2024. PMID: 38768074 Free article.
Reduction of Filamin C Results in Altered Proteostasis, Cardiomyopathy, and Arrhythmias.
Ohiri JC, Dellefave-Castillo L, Tomar G, Wilsbacher L, Choudhury L, Barefield DY, Fullenkamp D, Gacita AM, Monroe TO, Pesce L, Blancard M, Vaught L, George AL Jr, Demonbreun AR, Puckelwartz MJ, McNally EM. Ohiri JC, et al. Among authors: mcnally em. J Am Heart Assoc. 2024 May 21;13(10):e030467. doi: 10.1161/JAHA.123.030467. Epub 2024 May 18. J Am Heart Assoc. 2024. PMID: 38761081 Free article.
The extracellular matrix differentially directs myoblast motility and differentiation in distinct forms of muscular dystrophy: Dystrophic matrices alter myoblast motility.
Long AM, Kwon JM, Lee G, Reiser NL, Vaught LA, O'Brien JG, Page PGT, Hadhazy M, Reynolds JC, Crosbie RH, Demonbreun AR, McNally EM. Long AM, et al. Among authors: mcnally em. Matrix Biol. 2024 May;129:44-58. doi: 10.1016/j.matbio.2024.04.001. Epub 2024 Apr 4. Matrix Biol. 2024. PMID: 38582404 Free PMC article.
517 results