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Select Publications
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
,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, pp. 101842 - 101842, http://dx.doi.org/10.1016/j.gimo.2024.101842
,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
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
,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
,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
,2016, Faculty Opinions recommendation of Tetrameric Assembly of K+ Channels Requires ER-Located Chaperone Proteins., , http://dx.doi.org/10.3410/f.727072588.793526218
,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
,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
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