Select Publications
Journal articles
2024, 'Potassium dependent structural changes in the selectivity filter of HERG potassium channels', Nature Communications, 15, http://dx.doi.org/10.1038/s41467-024-51208-w
,2024, 'Assays of Variant Effect and Automated Patch Clamping Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification.', Circulation, http://dx.doi.org/10.1161/CIRCULATIONAHA.124.069828
,2024, 'Multisite Validation of a Functional Assay to Adjudicate SCN5A Brugada Syndrome–Associated Variants', Circulation: Genomic and Precision Medicine, 17, pp. e004569, http://dx.doi.org/10.1161/CIRCGEN.124.004569
,2024, 'Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assay', Human Genetics and Genomics Advances, 5, pp. 100270, http://dx.doi.org/10.1016/j.xhgg.2024.100270
,2024, 'A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship', Genetics in Medicine Open, 2, http://dx.doi.org/10.1016/j.gimo.2024.101842
,2024, 'Integration of validated functional evidence to support the pathogenicity of KCNH2 variants', Genetics in Medicine Open, 2, http://dx.doi.org/10.1016/j.gimo.2024.101868
,2023, 'Effects of cohort, genotype, variant, and maternal β-blocker treatment on foetal heart rate predictors of inherited long QT syndrome', Europace, 25, http://dx.doi.org/10.1093/europace/euad319
,2023, 'Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance', Human Molecular Genetics, 32, pp. 1072 - 1082, http://dx.doi.org/10.1093/hmg/ddac261
,2023, 'Development of automated patch clamp assays to overcome the burden of variants of uncertain significance in inheritable arrhythmia syndromes', Frontiers in Physiology, 14, pp. 1294741, http://dx.doi.org/10.3389/fphys.2023.1294741
,2022, 'A calibrated functional patch-clamp assay to enhance clinical variant interpretation in KCNH2-related long QT syndrome', American Journal of Human Genetics, 109, pp. 1199 - 1207, http://dx.doi.org/10.1016/j.ajhg.2022.05.002
,2022, 'A massively parallel assay accurately discriminates between functionally normal and abnormal variants in a hotspot domain of KCNH2', American Journal of Human Genetics, 109, pp. 1208 - 1216, http://dx.doi.org/10.1016/j.ajhg.2022.05.003
,2022, 'When it takes two to get one into trouble', Heart Rhythm, 19, pp. 293 - 294, http://dx.doi.org/10.1016/j.hrthm.2021.10.017
,2021, 'Modified N-linked glycosylation status predicts trafficking defective human Piezo1 channel mutations', Communications Biology, 4, http://dx.doi.org/10.1038/s42003-021-02528-w
,2021, 'Heterozygous KCNH2 variant phenotyping using Flp-In HEK293 and high-Throughput automated patch clamp electrophysiology', Biology Methods and Protocols, 6, pp. 1 - 9, http://dx.doi.org/10.1093/biomethods/bpab003
,2020, 'High-throughput discovery of trafficking-deficient variants in the cardiac potassium channel K
2020, 'Pharmacological activation of I
2020, 'High-throughput phenotyping of heteromeric human ether-à-go-go-related gene potassium channel variants can discriminate pathogenic from rare benign variants', Heart Rhythm, 17, pp. 492 - 500, http://dx.doi.org/10.1016/j.hrthm.2019.09.020
,2017, 'The S1 helix critically regulates the finely tuned gating of Kv11.1 channels', Journal of Biological Chemistry, 292, pp. 7688 - 7705, http://dx.doi.org/10.1074/jbc.M117.779298
,2016, 'Tyrosine residues from the s4-s5 linker of kv11.1 channels are critical for slow deactivation', Journal of Biological Chemistry, 291, pp. 17293 - 17302, http://dx.doi.org/10.1074/jbc.M116.729392
,2016, 'Rescue of protein expression defects may not be enough to abolish the pro-arrhythmic phenotype of long QT type 2 mutations', Journal of Physiology, 594, pp. 4031 - 4049, http://dx.doi.org/10.1113/JP271805
,2016, 'Removal of the mechanoprotective influence of the cytoskeleton reveals PIEZO1 is gated by bilayer tension', Nature Communications, 7, http://dx.doi.org/10.1038/ncomms10366
,2015, 'Getting to the heart of hERG K+ channel gating', Journal of Physiology, 593, pp. 2575 - 2585, http://dx.doi.org/10.1113/JP270095
,2014, 'Multiple interactions between cytoplasmic domains regulate slow deactivation of Kv11.1 channels', Journal of Biological Chemistry, 289, pp. 25822 - 25832, http://dx.doi.org/10.1074/jbc.M114.558379
,2014, 'Role of the cytoplasmic N-terminal cap and Per-Arnt-Sim (PAS) domain in trafficking and stabilization of Kv11.1 channels', Journal of Biological Chemistry, 289, pp. 13782 - 13791, http://dx.doi.org/10.1074/jbc.M113.531277
,2014, 'Multiscale cardiac modelling reveals the origins of notched T waves in long QT syndrome type 2', Nature Communications, 5, http://dx.doi.org/10.1038/ncomms6069
,2013, 'C-Terminal β9-Strand of the Cyclic Nucleotide-Binding Homology Domain Stabilizes Activated States of Kv11.1 Channels', PLoS ONE, 8, pp. e77032, http://dx.doi.org/10.1371/journal.pone.0077032
,2013, 'Hydrophobic interactions between the voltage sensor and pore mediate inactivation in Kv11.1 channels', Journal of General Physiology, 142, pp. 275 - 288, http://dx.doi.org/10.1085/jgp.201310975
,2013, 'Trafficking defects in PAS domain mutant Kv11.1 channels: Roles of reduced domain stability and altered domain-domain interactions', Biochemical Journal, 454, pp. 69 - 77, http://dx.doi.org/10.1042/BJ20130328
,2013, 'Pore helices play a dynamic role as integrators of domain motion during Kv11.1 channel inactivation gating', The Journal of Biological Chemistry, 288, pp. 11482 - 11491, http://dx.doi.org/10.1074/jbc.M113.461442
,2012, 'Insights into hERG K+ channel structure and function from NMR studies', European Biophysics Journal With Biophysics Letters, 42, pp. 71 - 79, http://dx.doi.org/10.1007/s00249-012-0808-6
,2012, 'The S4-S5 linker acts as a signal integrator for HERG K+ channel activation and deactivation gating', PLoS ONE, 7, pp. e31640, http://dx.doi.org/10.1371/journal.pone.0031640
,2012, 'Voltage-sensing domain mode shift is coupled to the activation gate by the N-terminal tail of hERG channels', Journal of General Physiology, 140, pp. 293 - 306, http://dx.doi.org/10.1085/jgp.201110761
,2011, 'The N-terminal tail of hERG contains an amphipathic alpha-helix that regulates channel deactivation', PLoS One, 6, pp. e16191, http://dx.doi.org/10.1371/journal.pone.0016191
,2009, 'Binding of an RNA pol II ligand to the ww domain of Pin1 using molecular dynamics docking simulations', Journal of Chemical Theory and Computation, 5, pp. 2886 - 2897, http://dx.doi.org/10.1021/ct900190n
,2008, 'Structural characterisation of PinA WW domain and a comparison with other Group IV WW domains, Pin1 and Ess1', Biochimica et Biophysica Acta - Proteins and Proteomics, 1784, pp. 1208 - 1214, http://dx.doi.org/10.1016/j.bbapap.2008.04.026
,2007, 'PinA from Aspergillus nidulans binds to pS/pT-P motifs using the same Loop I and XP groove as mammalian Pin1', Biochimica et Biophysica Acta - Proteins and Proteomics, 1774, pp. 1208 - 1212, http://dx.doi.org/10.1016/j.bbapap.2007.06.006
,2007, 'The conformation of acetylated virginiamycin M
2005, 'The conformational flexibility of the antibiotic virginiamycin M