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279 results

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Page 1
Clinical Characteristics and Outcomes in Patients With Atrial Fibrillation and Pathogenic TTN Variants.
Virk ZM, El-Harasis MA, Yoneda ZT, Anderson KC, Sun L, Quintana JA, Murphy BS, Laws JL, Davogustto GE, O'Neill MJ, Varghese BT, Crawford DM, Williams HL, Shabani M, Pelphrey CJ, Grauherr DD, Tomasek K, Su YR, Lancaster MC, Wells QS, Dendy JM, Saavedra P, Estrada JC, Richardson TD, Shen ST, Kanagasundram AN, Montgomery JA, Ellis CR, Crossley GH, Tandri H, Kannankeril PJ, Lubitz SA, Stevenson WG, Ye F, Ellinor PT, Stevenson LW, Roden DM, Shoemaker MB. Virk ZM, et al. Among authors: o neill mj. JACC Clin Electrophysiol. 2024 Nov;10(11):2445-2457. doi: 10.1016/j.jacep.2024.07.029. Epub 2024 Oct 23. JACC Clin Electrophysiol. 2024. PMID: 39453294 Free 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
Ablation for Atrial Fibrillation in Patients With Rare Pathogenic Variants in Cardiomyopathy and Arrhythmia Genes.
El-Harasis MA, Yoneda ZT, Anderson KC, Ye F, Quintana JA, Martinez-Parachini JR, Jackson GG, Varghese BT, Crawford DM, Sun L, Williams HL, O'Neill MJ, Davogustto GE, Laws JL, Murphy BS, Tomasek K, Su YR, McQuillen E, Metz E, Smith C, Stubbs D, Grauherr DD, Wells QS, Michaud GF, Saavedra P, Carlos Estrada J, Richardson TD, Shen ST, Kanagasundram AN, Montgomery JA, Tandri H, Ellis CR, Crossley GH, Kannankeril PJ, Stevenson LW, Stevenson WG, Lubitz SA, Ellinor PT, Roden DM, Shoemaker MB. El-Harasis MA, et al. Among authors: o neill mj. JACC Clin Electrophysiol. 2024 Nov;10(11):2359-2370. doi: 10.1016/j.jacep.2024.06.035. Epub 2024 Sep 4. JACC Clin Electrophysiol. 2024. PMID: 39243256 Free article.
Correction: Tau seed amplification assay reveals relationship between seeding and pathological forms of tau in Alzheimer's disease brain.
Frey B, Holzinger D, Taylor K, Ehrnhoefer DE, Striebinger A, Biesinger S, Gasparini L, O'Neill MJ, Wegner F, Barghorn S, Höglinger GU, Heym RG. Frey B, et al. Among authors: o neill mj. Acta Neuropathol Commun. 2024 Jul 15;12(1):115. doi: 10.1186/s40478-024-01825-9. Acta Neuropathol Commun. 2024. PMID: 39004770 Free PMC article. No abstract available.
Multisite Validation of a Functional Assay to Adjudicate SCN5A Brugada Syndrome-Associated Variants.
Ma JG, O'Neill MJ, Richardson E, Thomson KL, Ingles J, Muhammad A, Solus JF, Davogustto G, Anderson KC, Shoemaker MB, Stergachis AB, Floyd BJ, Dunn K, Parikh VN, Chubb H, Perrin MJ, Roden DM, Vandenberg JI, Ng CA, Glazer AM. Ma JG, et al. Among authors: o neill mj. Circ Genom Precis Med. 2024 Aug;17(4):e004569. doi: 10.1161/CIRCGEN.124.004569. Epub 2024 Jul 2. Circ Genom Precis Med. 2024. PMID: 38953211 Free article.
Multifocal Ectopic Purkinje Premature Contractions due to neutralization of an SCN5A negative charge: structural insights into the gating pore hypothesis.
Glazer AM, Yang T, Li B, Page D, Fouda M, Wada Y, Lancaster MC, O'Neill MJ, Muhammad A, Gao X, Ackerman MJ, Sanatani S, Ruben PC, Roden DM. Glazer AM, et al. Among authors: o neill mj. bioRxiv [Preprint]. 2024 Feb 16:2024.02.13.580021. doi: 10.1101/2024.02.13.580021. bioRxiv. 2024. PMID: 38405820 Free PMC article. Preprint.
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 M, Glazer AM, Knollmann BC, Roden DM, Weile J, Roth F, Salem JE, Earle N, Stiles R, Agee T, Johnson CN, Horie M, Skinner J, Ackerman MJ, Schwartz PJ, Ohno S, Vandenberg JI, Kroncke BM. O'Neill MJ, et al. medRxiv [Preprint]. 2024 Jun 18:2024.02.01.24301443. doi: 10.1101/2024.02.01.24301443. medRxiv. 2024. Update in: Circulation. 2024 Dec 3;150(23):1869-1881. doi: 10.1161/CIRCULATIONAHA.124.069828 PMID: 38370760 Free PMC article. Updated. Preprint.
Multi-site validation of a functional assay to adjudicate SCN5A Brugada Syndrome-associated variants.
Ma JG, O'Neill MJ, Richardson E, Thomson KL, Ingles J, Muhammad A, Solus JF, Davogustto G, Anderson KC, Benjamin Shoemaker M, Stergachis AB, Floyd BJ, Dunn K, Parikh VN, Chubb H, Perrin MJ, Roden DM, Vandenberg JI, Ng CA, Glazer AM. Ma JG, et al. Among authors: o neill mj. medRxiv [Preprint]. 2023 Dec 20:2023.12.19.23299592. doi: 10.1101/2023.12.19.23299592. medRxiv. 2023. Update in: Circ Genom Precis Med. 2024 Aug;17(4):e004569. doi: 10.1161/CIRCGEN.124.004569 PMID: 38196587 Free PMC article. Updated. Preprint.
279 results