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Conference Abstracts

Dyrda A; Tan C-Y; Ng C-A; Vandenberg JI; van Petegem F; Hool L, 2026, 'CACNA1C c.4558C>A (p.Leu1520Ile) variant associated with long QT syndrome 8 is a Cav1.2 gain-of-function mutation and provides insight into channel structure', in Journal of Molecular and Cellular Cardiology Plus, Elsevier BV, Vol. 15, pp. 100733 - 100733, http://dx.doi.org/10.1016/j.jmccpl.2025.100733

Ensam B; Johnson D; Scrocco C; Zimmerman D; Devine B; Jorda Burgos P; Glazer AM; Ng C; Postema PG; Barc J; Sharma S; Papadakis M; Vandenberg JI; Roden DM; MacFarlane P; Bezzina CR; Tadros R; Behr E, 2026, 'PO-02-142 USE OF A CLINICO-GENOMIC MODEL TO PREDICT AJMALINE INDUCED TYPE 1 BRUGADA PATTERN', in Heart Rhythm, Elsevier BV, Vol. 23, pp. S406 - S406, http://dx.doi.org/10.1016/j.hrthm.2026.03.533

Ishikawa T; Ma J; Yamagata K; Makita N; Aiba T; O’Neill M; Glazer A; Vandenberg J; Shimizu W; Ng C, 2026, 'Sodium Current Functional Severity as a Continuous Predictor of Lethal Arrhythmic Risk in SCN5A–Brugada Syndrome', in Heart Lung and Circulation, Elsevier, Vol. 35, pp. s310 - s311, http://dx.doi.org/10.1016/j.hlc.2026.07.434

O'Neill M; Ma J; Aldridge J; Solus J; Harvey G; Roberson P; Barc J; Bezzina C; Roden D; Walsh R; Vandenberg J; Ng C; Glazer A, 2025, 'Abstract 4364153: Cohort-scale automated patch clamp data improves variant classification and penetrance stratification for SCN5A-Brugada Syndrome', in Circulation, Wolters Kluwer, Vol. 152, pp. a4364153 - a4364153, http://dx.doi.org/10.1161/circ.152.suppl_3.4364153

Dyrda A; Tan C-Y; Ng C; Vandenberg J; Van Petegem F; Hool L, 2025, 'Abstract Fri084: Electrophysiological characterization of L1521I-Ca v 1.2 mutation reported in a cardiology patient provides insight into channel structure', in Circulation Research, Ovid Technologies (Wolters Kluwer Health), Vol. 137, http://dx.doi.org/10.1161/res.137.suppl_1.fri084

Dyrda A; Tan C; Ng C; Vandenberg J; van Petegem F; Hool L, 2025, 'CACNA1C c.4558C>A (p.Leu1520Ile) Variant of Uncertain Significance and Associated With Long QT Syndrome 8 is a Cav1.2 Gain-of-Function Mutation', in Heart, Lung and Circulation, Elsevier BV, Vol. 34, pp. S613 - S613, http://dx.doi.org/10.1016/j.hlc.2025.06.815

Ma J; O’Neill M; Richardson E; Ingles J; Thomson K; Solus J; Harvey G; Robertson P; Bezzina C; Roden D; Walsh R; Vandenberg J; Glazer A; Ng C, 2024, 'A Validated SCN5A Functional Assay to Adjudicate Variants of Uncertain Significance from the International Brugada Syndrome Genetics Consortia', in Heart Lung and Circulation, Elsevier, Vol. 33, pp. s96, http://dx.doi.org/10.1016/j.hlc.2024.04.170

Tan C; Shen Q; Vandenberg J; Ng C, 2024, 'Establishing a Functional Genomics Assay to Assess Clinical Variants in CACNA1C-Related Disorders', in Heart, Lung and Circulation, Elsevier BV, Vol. 33, pp. S117 - S117, http://dx.doi.org/10.1016/j.hlc.2024.04.210

Shen Q; Tan C; Ng C; Vandenberg J, 2024, 'Establishing an Automated Patch Clamp Assay to Assess Both Activity and Adrenergic Responses of KCNQ1 Variants', in Heart, Lung and Circulation, Elsevier BV, Vol. 33, pp. S115 - S115, http://dx.doi.org/10.1016/j.hlc.2024.04.207

Lau C; Flood E; Hunter M; Corbett K; Ng C; Bouwer J; Stewart A; Perozo E; Allen TW; Vandenberg J, 2023, 'Structural basis of rapid inactivation of HERG potassium channels', in BIOPHYSICAL JOURNAL, CELL PRESS, Vol. 122, pp. 446A - 446A, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000989629702422&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Ma G; O’Neill M; Richardson E; Thomson K; Ingles J; Roden D; Vandenberg J; Ng C; Glazer A, 2023, 'Utility of a High-Throughput Electrophysiology Assay to Determine Pathogenicity of SCN5A Variants Associated With Brugada Syndrome', in Heart Lung and Circulation, Elsevier, Vol. 32, pp. s131 - s132, http://dx.doi.org/10.1016/j.hlc.2023.06.763

Ullah R; Ng CA; Vanags L; Mitchell D; Vandenberg J; Kroncke B, 2022, 'Abstract 12815: High Throughput Variant Identification in the S3-S5 Helices of KCNH2 (hERG)', in Circulation, Wolters Kluwer, Vol. 146, pp. a12815 - a12815, http://dx.doi.org/10.1161/circ.146.suppl_1.12815

Jiang C; Richardson E; Farr J; Hill A; Ullah R; Kroncke B; Harrison S; Thomson K; Ingles J; Vandenberg J; Ng C, 2022, 'A Calibrated Functional Patch Clamp Assay to Enhance Clinical Variant Interpretation in KCNH2-Related Long QT Syndrome', in Heart Lung and Circulation, Elsevier, Vol. 31, pp. s37 - s37, presented at 70th Annual Scientific Meeting of the Cardiac Society of Australia and New Zealand, 11 August 2022 - 14 August 2022, http://dx.doi.org/10.1016/j.hlc.2022.06.003

Ullah R; Ng C; Farr J; Hill A; kozek K; Vanags L; Mitchell D; Vandenberg J; Kroncke B, 2021, 'Abstract 11153: Massively Parallel, High-Throughput Approach for Identifying Defective KCNH2 (hERG) Variants', in Circulation, Ovid Technologies (Wolters Kluwer Health), Vol. 144, http://dx.doi.org/10.1161/circ.144.suppl_1.11153

Jiang C; Farr J; Hill A; Kroncke B; Ingles J; Vandenberg J; Ng CA, 2021, 'Abstract 11857: Benchmarking a Functional Assay to Assist Clinical Classification of Variants of Uncertain Significance in KCNH2 (Long QT Syndrome Type 2)', in Circulation, Wolters Kluwer, Vol. 144, pp. a11857 - a11857, http://dx.doi.org/10.1161/circ.144.suppl_1.11857

Li J; Ng CA; Cheng D; Cox CD, 2021, 'Modified N-Linked Glycosylation Status Predicts Trafficking Defective', in BIOPHYSICAL JOURNAL, CELL PRESS, ELECTR NETWORK, Vol. 120, pp. 236A - 237A, presented at 65th Annual Meeting of the Biophysical-Society (BPS), ELECTR NETWORK, 22 February 2021 - 26 February 2021, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000629601401400&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Li J; Ann Ng C; Cheng D; Cox CD, 2021, 'Modified N-Linked Glycosylation Status Predicts Trafficking Defective Piezo1 Channel Mutations', in Biophysical Journal, Elsevier BV, Vol. 120, pp. 236a - 237a, http://dx.doi.org/10.1016/j.bpj.2020.11.1562

Cox CD; Ng CA; Bavi N; Martinac B, 2017, 'Mechanically-Induced Gating in PKD2L1 (Trpp2): Calcium-Induced Activation Masquerading as Force Sensitivity?', in Biophysical Journal, Elsevier, Vol. 112, pp. 311a, http://dx.doi.org/10.1016/j.bpj.2016.11.1686

Tan PS; Perry M; Chai AN; Vandenberg JI; Hill AP, 2012, 'Bimodal Regulation of hERG Gating by the N-Terminal Tail Revealed by Voltage Clamp Fluorometry', in BIOPHYSICAL JOURNAL, CELL PRESS, CA, San Diego, Vol. 102, pp. 328A - 328A, presented at 56th Annual Meeting of the Biophysical-Society, CA, San Diego, 25 February 2012 - 29 February 2012, http://dx.doi.org/10.1016/j.bpj.2011.11.1800

Ke Y; Hunter M; Ng CA; Vandenberg J, 2012, 'Domain Misfolding and Destabilisation of Domain–Domain Interactions Both Contribute to Defective Trafficking of hERG EAG Domain Mutant Channels', in Heart, Lung and Circulation, Vol. 21, pp. 860 - 861, http://dx.doi.org/10.1016/j.hlc.2012.08.025

Metzger RP; Dang J; Ng CA; Brownlee RTC; Bergdahl M; Separovic F, 2005, 'Virginiamycin M1 conformation in aqueous systems.', in ABSTRACTS OF PAPERS OF THE AMERICAN CHEMICAL SOCIETY, AMER CHEMICAL SOC, CA, San Diego, Vol. 229, pp. U188 - U188, presented at 229th National Meeting of the American-Chemical-Society, CA, San Diego, 13 March 2005 - 17 March 2005

Phan K; Ng C; McNitt S; Moss A; Zareba W; Perry M; Vandenberg J, 'The role of in vitro phenotypes for clinical risk stratification of sudden death in Long QT Syndrome Type 2', in Heart, Lung and Circulation, Elsevier, Vol. 24, pp. S232 - S233, presented at Heart, Lung and Circulation, http://dx.doi.org/10.1016/j.hlc.2015.06.289

Datasets

Vandenberg J; Ng CA, 2016, Faculty Opinions recommendation of Tetrameric Assembly of K+ Channels Requires ER-Located Chaperone Proteins., http://dx.doi.org/10.3410/f.727072588.793526218

Working Papers

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 C-A; Glazer AM, 2023, Multi-site validation of a functional assay to adjudicate SCN5A Brugada Syndrome-associated variants., http://dx.doi.org10.1101/2023.12.19.23299592, https://www.ncbi.nlm.nih.gov/pubmed/38196587

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

Other

Ng CA; Kuchel PW; Vandenberg JI, 2012, Solution nmr structure of the S4S5 linker of herg potassium channel, Worldwide Protein Data Bank, http://dx.doi.org/10.2210/pdb2le7/pdb

Ng CA; Hunter MJ; Mobli M; King GF; Kuchel PW; Vandenberg JI, 2011, Solution NMR structure of the N-terminal PAS domain of HERG potassium channel, Worldwide Protein Data Bank, http://dx.doi.org/10.2210/pdb2l0w/pdb

Ng CA; Kato Y; Tanokura M; Brownlee RTC, 2007, Structure Characterisation of PINA WW Domain and Comparison with other Group IV WW Domains, PIN1 and ESS1, Worldwide Protein Data Bank, http://dx.doi.org/10.2210/pdb2jv4/pdb


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