Scheduled Maintenance Notice

Please note that Researcher Profiles will be undergoing scheduled maintenance on Wednesday 7th Oct, from 8:00am to 9:00am. During this time, the Researcher Profiles system will be unavailable. We apologise for any inconvenience and appreciate your understanding.

Select Publications

Preprints

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 KCNH2-related Long QT Syndrome., http://dx.doi.org/10.1101/2025.02.05.25321617

Jiang C; Richardson E; Farr J; Hill AP; Ullah R; Kroncke BM; Harrison SM; Thomson KL; Ingles J; Vandenberg JI; Ng C-A, 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

Finol-Urdaneta RK; Tan C-Y; Maksemous N; G. J; Lockhart PJ; Snell P; Malhotra A; Thompson BA; Garg G; Goel H; Griffiths LR; Adams DJ; Vandenberg JI; Ng C-A, Calibrated high-throughput electrophysiology enables clinical interpretation of CACNA1G missense variants, http://dx.doi.org/10.64898/2026.05.10.724145

Thomson KL; Jiang C; Richardson E; Westphal DS; Burkard T; Wolf CM; Vatta M; Harrison SM; Ingles J; Bezzina CR; Kroncke BM; Vandenberg JI; Ng C-A, Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch clamp assay, http://dx.doi.org/10.1101/2023.10.08.23296707

O’Neill MJ; G. J; Aldridge JL; Solus JF; Harvey GR; Roberson PH; Barc J; Bezzina CR; Roden DM; Walsh R; Vandenberg JI; Glazer AM; Ng C-A, Cohort-scale automated patch clamp data improves variant classification and penetrance stratification for SCN5A-Brugada Syndrome, http://dx.doi.org/10.1101/2025.03.09.25323605

Allan KM; Zhang S; Wong SL; Capraro A; McCarron A; Skinner D; Kardia E; Zheng Y; Zhong L; Ng C-A; Bell JL; Farrow N; Umashankar B; Banks C; Herbert C; Kilian KA; Pandzic E; Vittorio O; Vandenberg JI; Lock JG; Jaffe A; Donnelley M; Parsons D; Woodworth BA; Cho D-Y; Waters SA, Gene-Corrected Basal Cells Restore CFTR In Vitro; Transplants Regenerate Epithelium in a Preclinical Sinus Model, http://dx.doi.org/10.1101/2025.07.21.666023

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, High-throughput discovery of trafficking-deficient variants in the cardiac potassium channel KCNH2: Deep mutational scan of KCNH2 trafficking, http://dx.doi.org/10.1101/2020.02.17.952606

Harvey ML; Osborn E; Lancaster MC; Smith JE; Shen Q; Abe T; Cai R; Muhammad A; Kannankeril R; Yang T; Calandranis ME; Blackwell DJ; Dolder RE; Aldridge JL; Fleming MR; Blair MA; Soria E; O’Sullivan JW; Davogustto G; Kroncke BM; MacRae CA; Knollmann BC; Roth FP; Parikh VN; Ashley EA; Vandenberg JI; Ng C-A; Roden DM; Glazer AM, Mapping the Functional Landscape of KCNQ1 to Define Ion Channel Mechanisms and Arrhythmia Risk, http://dx.doi.org/10.64898/2025.12.15.25341924

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, Modified N-linked glycosylation status predicts trafficking defective human Piezo1 channel mutations, http://dx.doi.org/10.1101/2020.11.30.404962

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, 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, Potassium dependent structural changes in the selectivity filter of HERG potassium channels, http://dx.doi.org/10.1101/2023.12.14.571769

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, Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance, http://dx.doi.org/10.1101/2022.08.05.502917

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


Back to profile page