Select Publications
Book Chapters
2014, 'Voltage-Gated Potassium Channels (Kv10-Kv12)', in Reference Module in Biomedical Research, http://dx.doi.org/10.1016/B978-0-12-801238-3.04809-1
,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
Conference Papers
2021, 'Modified N-Linked Glycosylation Status Predicts Trafficking Defective', in BIOPHYSICAL JOURNAL, CELL PRESS, ELECTR NETWORK, 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
,Conference Abstracts
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 BV, Vol. 33, pp. S96 - S96, http://dx.doi.org/10.1016/j.hlc.2024.04.170
,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
,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
,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
,2023, 'Utility of a High-Throughput Electrophysiology Assay to Determine Pathogenicity of SCN5A Variants Associated With Brugada Syndrome', in Heart, Lung and Circulation, Elsevier BV, Vol. 32, pp. S131 - S132, http://dx.doi.org/10.1016/j.hlc.2023.06.763
,2022, 'Abstract 12815: High Throughput Variant Identification in the S3-S5 Helices of KCNH2 (hERG)', in Circulation, Ovid Technologies (Wolters Kluwer Health), Vol. 146, http://dx.doi.org/10.1161/circ.146.suppl_1.12815
,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
,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
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