Select Publications
Conference Abstracts
, 2025, 'Abstract 4364153: Cohort-scale automated patch clamp data improves variant classification and penetrance stratification for SCN5A -Brugada Syndrome', in Circulation, Ovid Technologies (Wolters Kluwer Health), Vol. 152, http://dx.doi.org/10.1161/circ.152.suppl_3.4364153
, 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
, 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
, 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', 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
, 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
, 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
, '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