Select Publications
Conference Abstracts
, 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
, 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
, 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
, 2014, 'Mechanically-Induced Gating in PKD2L1 (Trpp2): Calcium-Induced Activation Masquerading as Force Sensitivity?', in BIOPHYSICAL JOURNAL, CELL PRESS, CA, San Francisco, Vol. 112, pp. 311A - 311A, presented at 58th Annual Meeting of the Biophysical-Society, CA, San Francisco, 15 February 2014 - 19 February 2014, http://dx.doi.org/10.1016/j.bpj.2016.11.1686
, 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
, 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
, '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
, 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
, 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
, 2025, Calibrated Functional Data Decreases Clinical Uncertainty for KCNH2-related Long QT Syndrome., http://dx.doi.org/10.1101/2025.02.05.25321617
, 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
, 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
, 2023, Potassium dependent structural changes in the selectivity filter of HERG potassium channels, http://dx.doi.org/10.1101/2023.12.14.571769
, 2023, Clinical interpretation ofKCNH2variants using a robust PS3/BS3 functional patch clamp assay, http://dx.doi.org/10.1101/2023.10.08.23296707
, 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
, 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
, 2021, Structural Basis for Rapid Voltage Dependent Inactivation of HERG Potassium Channels, http://dx.doi.org/10.21203/rs.3.rs-1105661/v1
, 2020, Modified N-linked glycosylation status predicts trafficking defective human Piezo1 channel mutations, http://dx.doi.org/10.1101/2020.11.30.404962
, 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
Other
, 2012, Solution nmr structure of the S4S5 linker of herg potassium channel, Worldwide Protein Data Bank, http://dx.doi.org/10.2210/pdb2le7/pdb
, 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
, 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