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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. Among authors: ng ca. 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.
When it takes two to get one into trouble.
Ng CA, Vandenberg JI. Ng CA, et al. Heart Rhythm. 2022 Feb;19(2):293-294. doi: 10.1016/j.hrthm.2021.10.017. Epub 2021 Oct 21. Heart Rhythm. 2022. PMID: 34687922 No abstract available.
Effects of cohort, genotype, variant, and maternal β-blocker treatment on foetal heart rate predictors of inherited long QT syndrome.
Kaizer AM, Winbo A, Clur SB, Etheridge SP, Ackerman MJ, Horigome H, Herberg U, Dagradi F, Spazzolini C, Killen SAS, Wacker-Gussmann A, Wilde AAM, Sinkovskaya E, Abuhamad A, Torchio M, Ng CA, Rydberg A, Schwartz PJ, Cuneo BF. Kaizer AM, et al. Among authors: ng ca. Europace. 2023 Nov 2;25(11):euad319. doi: 10.1093/europace/euad319. Europace. 2023. PMID: 37975542 Free PMC article.
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: ng ca. 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.
121 results