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Transcriptional Dysregulation Underlies Both Monogenic Arrhythmia Syndrome and Common Modifiers of Cardiac Repolarization.
Bersell KR, Yang T, Mosley JD, Glazer AM, Hale AT, Kryshtal DO, Kim K, Steimle JD, Brown JD, Salem JE, Campbell CC, Hong CC, Wells QS, Johnson AN, Short L, Blair MA, Behr ER, Petropoulou E, Jamshidi Y, Benson MD, Keyes MJ, Ngo D, Vasan RS, Yang Q, Gerszten RE, Shaffer C, Parikh S, Sheng Q, Kannankeril PJ, Moskowitz IP, York JD, Wang TJ, Knollmann BC, Roden DM. Bersell KR, et al. Circulation. 2023 Mar 7;147(10):824-840. doi: 10.1161/CIRCULATIONAHA.122.062193. Epub 2022 Dec 16. Circulation. 2023. PMID: 36524479 Free PMC article.
Mortality Among Patients With Early-Onset Atrial Fibrillation and Rare Variants in Cardiomyopathy and Arrhythmia Genes.
Yoneda ZT, Anderson KC, Ye F, Quintana JA, O'Neill MJ, Sims RA, Sun L, Glazer AM, Davogustto G, El-Harasis M, Laws JL, Saldivar BN, Crawford DM, Stricker T, Wells Q, Darbar D, Michaud GF, Stevenson LW, Lubitz SA, Ellinor PT, Roden DM, Shoemaker MB. Yoneda ZT, et al. JAMA Cardiol. 2022 Jul 1;7(7):733-741. doi: 10.1001/jamacardio.2022.0810. JAMA Cardiol. 2022. PMID: 35544069 Free PMC article.
Multicenter clinical and functional evidence reclassifies a recurrent noncanonical filamin C splice-altering variant.
O'Neill MJ, Chen SN, Rumping L, Johnson R, van Slegtenhorst M, Glazer AM, Yang T, Solus JF, Laudeman J, Mitchell DW, Vanags LR, Kroncke BM, Anderson K, Gao S, Verdonschot JAJ, Brunner H, Hellebrekers D, Taylor MRG, Roden DM, Wessels MW, Lekanne Dit Deprez RH, Fatkin D, Mestroni L, Shoemaker MB. O'Neill MJ, et al. Heart Rhythm. 2023 Aug;20(8):1158-1166. doi: 10.1016/j.hrthm.2023.05.006. Epub 2023 May 9. Heart Rhythm. 2023. PMID: 37164047 Free PMC article.
Proactive Variant Effect Mapping Aids Diagnosis in Pediatric Cardiac Arrest.
Floyd BJ, Weile J, Kannankeril PJ, Glazer AM, Reuter CM, MacRae CA, Ashley EA, Roden DM, Roth FP, Parikh VN. Floyd BJ, et al. Circ Genom Precis Med. 2023 Feb;16(1):e003792. doi: 10.1161/CIRCGEN.122.003792. Epub 2023 Jan 30. Circ Genom Precis Med. 2023. PMID: 36716194 Free PMC article. Review. No abstract available.
Dominant negative effects of SCN5A missense variants.
O'Neill MJ, Muhammad A, Li B, Wada Y, Hall L, Solus JF, Short L, Roden DM, Glazer AM. O'Neill MJ, et al. Genet Med. 2022 Jun;24(6):1238-1248. doi: 10.1016/j.gim.2022.02.010. Epub 2022 Mar 16. Genet Med. 2022. PMID: 35305865 Free PMC article.
Multiplexed Assays of Variant Effect and Automated Patch Clamping Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification.
O'Neill MJ, Ng CA, Aizawa T, Sala L, Bains S, Winbo A, Ullah R, Shen Q, Tan CY, Kozek K, Vanags LR, Mitchell DW, Shen A, Wada Y, Kashiwa A, Crotti L, Dagradi F, Musu G, Spazzolini C, Neves R, Bos JM, Giudicessi JR, Bledsoe X, Gamazon ER, Lancaster MC, Glazer AM, Knollmann BC, Roden DM, Weile J, Roth F, Salem JE, Earle N, Stiles R, Agee T, Johnson CN, Horie M, Skinner JR, Ackerman MJ, Schwartz PJ, Ohno S, Vandenberg JI, Kroncke BM. O'Neill MJ, et al. Circulation. 2024 Dec 3;150(23):1869-1881. doi: 10.1161/CIRCULATIONAHA.124.069828. Epub 2024 Sep 24. Circulation. 2024. PMID: 39315434
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