By Dr Chai Ann Ng

Preprints

O’Neill MJ; Ma JG; Aldridge JL; Solus JF; Harvey GR; Roberson PH; Barc J; Bezzina CR; Roden DM; Walsh R; Vandenberg JI; Glazer AM; Ng C-A, 2025, Cohort-scale automated patch clamp data improves variant classification and penetrance stratification forSCN5A-Brugada Syndrome, http://dx.doi.org/10.1101/2025.03.09.25323605

Ng C-A; O'Neill MJ; Padigepati SR; Ting Y-L; Facio FM; Vatta M; Poll SR; Reuter J; Vandenberg JI; Kroncke BM, 2025, Calibrated Functional Data Decreases Clinical Uncertainty for Tier 1 Monogenic Disease: Application to Long QT Syndrome., http://dx.doi.org/10.1101/2025.02.05.25321617

O'Neill MJ; Ng C-A; Aizawa T; Sala L; Bains S; Winbo A; Ullah R; Shen Q; Tan C-Y; 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 J-E; Earle N; Stiles R; Agee T; Johnson CN; Horie M; Skinner J; Ackerman MJ; Schwartz PJ; Ohno S; Vandenberg JI; Kroncke BM, 2024, Multiplexed Assays of Variant Effect and Automated Patch-clamping Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification., http://dx.doi.org/10.1101/2024.02.01.24301443

Lau CHY; Flood E; Hunter MJ; Williams-Noonan BJ; Corbett KM; Ng C-A; Bouwer JC; Stewart AG; Perozo E; Allen TW; Vandenberg JI, 2023, Potassium dependent structural changes in the selectivity filter of HERG potassium channels, http://dx.doi.org/10.1101/2023.12.14.571769

Thomson K; Jiang C; Richardson E; Westphal D; Burkard T; Wolf C; Vatta M; Harrison S; Ingles J; Bezzina C; Kroncke B; Vandenberg J; Ng C-A, 2023, Clinical interpretation ofKCNH2variants using a robust PS3/BS3 functional patch clamp assay, http://dx.doi.org/10.1101/2023.10.08.23296707

Copier JS; Bootsma M; Ng C; Wilde AAM; Bertels RA; Bikker H; Christiaans I; van der Crabben SN; Hol JA; Koopmann TT; Knijnenburg J; Lommerse AAJ; van der Smagt JJ; Bezzina CR; Vandenberg JI; Verkerk AO; Barge-Schaapveld DQCM; Lodder EM, 2022, Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance, http://dx.doi.org/10.1101/2022.08.05.502917

Jiang C; Richardson E; Farr J; Hill A; Ullah R; Kroncke B; Harrison S; Thomson K; Ingles J; Vandenberg J; Ng C-A, 2021, A calibrated functional patch clamp assay to enhance clinical variant interpretation in KCNH2-related long QT syndrome, http://dx.doi.org/10.1101/2021.12.13.472492

Vandenberg J; Lau C; Flood E; Hunter M; Ng C-A; Bouwer J; Stewart A; Perozo E; Allen T, 2021, Structural Basis for Rapid Voltage Dependent Inactivation of HERG Potassium Channels, http://dx.doi.org/10.21203/rs.3.rs-1105661/v1

Li JV; Ng C-A; Cheng D; Yao M; Guo Y; Yu Z-Y; Ramaswamy Y; Ju LA; Kuchel PW; Feneley MP; Fatkin D; Cox CD, 2020, Modified N-linked glycosylation status predicts trafficking defective human Piezo1 channel mutations, http://dx.doi.org/10.1101/2020.11.30.404962

Kozek KA; Glazer AM; Ng C-A; Blackwell D; Egly CL; Vanags LR; Blair M; Mitchell D; Matreyek KA; Fowler DM; Knollmann BC; Vandenberg J; Roden DM; Kroncke BM, 2020, High-throughput discovery of trafficking-deficient variants in the cardiac potassium channelKCNH2: Deep mutational scan ofKCNH2trafficking, http://dx.doi.org/10.1101/2020.02.17.952606

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