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Page 1
The impact of common and rare genetic variants on bradyarrhythmia development.
Weng LC, Rämö JT, Jurgens SJ, Khurshid S, Chaffin M, Hall AW, Morrill VN, Wang X, Nauffal V, Sun YV, Beer D, Lee S, Nadkarni GN, Duong T, Wang B, Czuba T, Austin TR, Yoneda ZT, Friedman DJ, Clayton A, Hyman MC, Judy RL, Skanes AC, Orland KM, Treu TM, Oetjens MT, Alonso A, Soliman EZ, Lin H, Lunetta KL, van der Pals J, Issa TZ, Nafissi NA, May HT, Leong-Sit P, Roselli C, Choi SH; FinnGen; Million Veteran Program; Regeneron Genetics Center; Khan HR, Knight S, Karlsson Linnér R, Bezzina CR, Ripatti S, Heckbert SR, Gaziano JM, Loos RJF, Psaty BM, Smith JG, Benjamin EJ, Arking DE, Rader DJ, Shah SH, Roden DM, Damrauer SM, Eckhardt LL, Roberts JD, Cutler MJ, Shoemaker MB, Haggerty CM, Cho K, Palotie A, Wilson PWF, Ellinor PT, Lubitz SA. Weng LC, et al. Among authors: bezzina cr. Nat Genet. 2025 Jan 2. doi: 10.1038/s41588-024-01978-2. Online ahead of print. Nat Genet. 2025. PMID: 39747593
Novel risk predictor of arrhythmias for patients with potassium channel-related congenital long QT syndrome.
Krijger Juarez C, Proost VM, Tanck MW, Dittmann S, Bos JM, Crotti L, Barc J, van den Berg MP, Mujkanovic J, Rickert C, Lopes Neves RA, Musu G, Dagradi F, Giovenzana FLF, Clédel A, Thollet A, Giudicessi JR, Tfelt-Hansen J, Probst V, Schwartz PJ, Ackerman MJ, Schulze-Bahr E, Bezzina CR, Wilde AAM. Krijger Juarez C, et al. Among authors: bezzina cr. Heart Rhythm. 2024 Dec 14:S1547-5271(24)03660-9. doi: 10.1016/j.hrthm.2024.12.015. Online ahead of print. Heart Rhythm. 2024. PMID: 39675651 Free article.
Publisher Correction: Genome-wide association study reveals mechanisms underlying dilated cardiomyopathy and myocardial resilience.
Jurgens SJ, Rämö JT, Kramarenko DR, Wijdeveld LFJM, Haas J, Chaffin MD, Garnier S, Gaziano L, Weng LC, Lipov A, Zheng SL, Henry A, Huffman JE, Challa S, Rühle F, Verdugo CD, Krijger Juárez C, Kany S, van Orsouw CA, Biddinger K, Poel E, Elliott AL, Wang X, Francis C, Ruan R, Koyama S, Beekman L, Zimmerman DS, Deleuze JF, Villard E, Trégouët DA, Isnard R; FinnGen; VA Million Veteran Program; HERMES Consortium; Boomsma DI, de Geus EJC, Tadros R, Pinto YM, Wilde AAM, Hottenga JJ, Sinisalo J, Niiranen T, Walsh R, Schmidt AF, Choi SH, Chang KM, Tsao PS, Matthews PM, Ware JS, Lumbers RT, van der Crabben S, Laukkanen J, Palotie A, Amin AS, Charron P, Meder B, Ellinor PT, Daly M, Aragam KG, Bezzina CR. Jurgens SJ, et al. Among authors: bezzina cr. Nat Genet. 2024 Dec;56(12):2843. doi: 10.1038/s41588-024-02047-4. Nat Genet. 2024. PMID: 39633063 Free PMC article. No abstract available.
Genome-wide association study reveals mechanisms underlying dilated cardiomyopathy and myocardial resilience.
Jurgens SJ, Rämö JT, Kramarenko DR, Wijdeveld LFJM, Haas J, Chaffin MD, Garnier S, Gaziano L, Weng LC, Lipov A, Zheng SL, Henry A, Huffman JE, Challa S, Rühle F, Verdugo CD, Krijger Juárez C, Kany S, van Orsouw CA, Biddinger K, Poel E, Elliott AL, Wang X, Francis C, Ruan R, Koyama S, Beekman L, Zimmerman DS, Deleuze JF, Villard E, Trégouët DA, Isnard R; FinnGen; VA Million Veteran Program; HERMES Consortium; Boomsma DI, de Geus EJC, Tadros R, Pinto YM, Wilde AAM, Hottenga JJ, Sinisalo J, Niiranen T, Walsh R, Schmidt AF, Choi SH, Chang KM, Tsao PS, Matthews PM, Ware JS, Lumbers RT, van der Crabben S, Laukkanen J, Palotie A, Amin AS, Charron P, Meder B, Ellinor PT, Daly M, Aragam KG, Bezzina CR. Jurgens SJ, et al. Among authors: bezzina cr. Nat Genet. 2024 Dec;56(12):2636-2645. doi: 10.1038/s41588-024-01975-5. Epub 2024 Nov 21. Nat Genet. 2024. PMID: 39572784 Free PMC article.
Long-term prognosis of patients with an SCN5A loss-of-function variant and progressive cardiac conduction disorder or Brugada syndrome.
Tuijnenburg F, Proost VM, Thollet A, Barc J, Groffen AJA, Veerman CC, van der Crabben SN, van der Pas VR, Kyndt F, Jurgens SJ, Tanck MWT, Postema PG, Peter van Tintelen J, Bezzina CR, Probst V, Wilde AAM, Gourraud JB, Amin AS. Tuijnenburg F, et al. Among authors: bezzina cr. Heart Rhythm. 2024 Nov 2:S1547-5271(24)03518-5. doi: 10.1016/j.hrthm.2024.10.057. Online ahead of print. Heart Rhythm. 2024. PMID: 39491571 Free article.
A validated heart-specific model for splice-disrupting variants in childhood heart disease.
Lesurf R, Breckpot J, Bouwmeester J, Hanafi N, Jain A, Liang Y, Papaz T, Lougheed J, Mondal T, Alsalehi M, Altamirano-Diaz L, Oechslin E, Audain E, Dombrowsky G, Postma AV, Woudstra OI, Bouma BJ, Hitz MP, Bezzina CR, Blue GM, Winlaw DS, Mital S. Lesurf R, et al. Among authors: bezzina cr. Genome Med. 2024 Oct 15;16(1):119. doi: 10.1186/s13073-024-01383-8. Genome Med. 2024. PMID: 39402625 Free PMC article.
A Rare Noncoding Enhancer Variant in SCN5A Contributes to the High Prevalence of Brugada Syndrome in Thailand.
Walsh R, Mauleekoonphairoj J, Mengarelli I, Bosada FM, Verkerk AO, van Duijvenboden K, Poovorawan Y, Wongcharoen W, Sutjaporn B, Wandee P, Chimparlee N, Chokesuwattanaskul R, Vongpaisarnsin K, Dangkao P, Wu CI, Tadros R, Amin AS, Lieve KVV, Postema PG, Kooyman M, Beekman L, Sahasatas D, Amnueypol M, Krittayaphong R, Prechawat S, Anannab A, Makarawate P, Ngarmukos T, Phusanti K, Veerakul G, Kingsbury Z, Newington T, Maheswari U, Ross MT, Grace A, Lambiase PD, Behr ER, Schott JJ, Redon R, Barc J, Christoffels VM, Wilde AAM, Nademanee K, Bezzina CR, Khongphatthanayothin A. Walsh R, et al. Among authors: bezzina cr. Circulation. 2025 Jan 7;151(1):31-44. doi: 10.1161/CIRCULATIONAHA.124.069041. Epub 2024 Oct 11. Circulation. 2025. PMID: 39391988 Free PMC article.
241 results