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Page 1
Detection of distant relatedness in biobanks for identification of undiagnosed carriers of a Mendelian disease variant: application to Long QT Syndrome.
Lancaster MC, Chen HH, Shoemaker MB, Fleming MR, Baker JT, Evans G, Polikowsky HG, Samuels DC, Huff CD, Roden DM, Below JE. Lancaster MC, et al. Res Sq [Preprint]. 2023 Sep 15:rs.3.rs-3314860. doi: 10.21203/rs.3.rs-3314860/v1. Res Sq. 2023. Update in: Nat Commun. 2024 Aug 29;15(1):7507. doi: 10.1038/s41467-024-51977-4 PMID: 37790303 Free PMC article. Updated. Preprint.
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: lancaster mc. 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 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.
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. Among authors: lancaster mc. Circulation. 2024 Dec 3;150(23):1869-1881. doi: 10.1161/CIRCULATIONAHA.124.069828. Epub 2024 Sep 24. Circulation. 2024. PMID: 39315434
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: lancaster mc. bioRxiv [Preprint]. 2024 Feb 16:2024.02.13.580021. doi: 10.1101/2024.02.13.580021. bioRxiv. 2024. PMID: 38405820 Free PMC article. Preprint.
70 results