Select Publications
Journal articles
2022, 'Titin-related Cardiomyopathy: Is it a Distinct Disease?', Current Cardiology Reports, 24, pp. 1069 - 1075, http://dx.doi.org/10.1007/s11886-022-01726-0
,2022, 'Exploring the Genetic Architecture of Spontaneous Coronary Artery Dissection Using Whole-Genome Sequencing', Circulation: Genomic and Precision Medicine, 15, pp. 267 - 277, http://dx.doi.org/10.1161/CIRCGEN.121.003527
,2022, 'Fishing for Links between Omega-3 Fatty Acids and Atrial Fibrillation', Circulation, 145, pp. 1037 - 1039, http://dx.doi.org/10.1161/CIRCULATIONAHA.121.058596
,2022, 'Association of Titin Variations with Late-Onset Dilated Cardiomyopathy', JAMA Cardiology, 7, pp. 371 - 377, http://dx.doi.org/10.1001/jamacardio.2021.5890
,2022, 'Pregnancy Outcomes in Females With Dilated Cardiomyopathy-Associated Rare Genetic Variants', Circulation: Genomic and Precision Medicine, 15, pp. E003540, http://dx.doi.org/10.1161/CIRCGEN.121.003540
,2022, 'Rationale and design of the PROspective ATHletic Heart (Pro@Heart) study: Long-term assessment of the determinants of cardiac remodelling and its clinical consequences in endurance athletes', BMJ Open Sport and Exercise Medicine, 8, http://dx.doi.org/10.1136/bmjsem-2022-001309
,2022, 'Arrhythmic Phenotypes Are a Defining Feature of Dilated Cardiomyopathy-Associated SCN5A Variants: A Systematic Review', Circulation: Genomic and Precision Medicine, 15, pp. E003432, http://dx.doi.org/10.1161/CIRCGEN.121.003432
,2022, 'Non-ischaemic dilated cardiomyopathy: recognising the genetic links', Internal Medicine Journal, 53, http://dx.doi.org/10.1111/imj.15921
,2022, 'Polygenic Risk Scores Identify Atrial Electrophysiological Substrate Abnormalities and Predict Atrial Fibrillation Recurrence Following Catheter Ablation', Heart, Lung and Circulation, 31, pp. S52 - S52, http://dx.doi.org/10.1016/j.hlc.2022.06.027
,2021, 'Genetic variants associated with inherited cardiovascular disorders among 13,131 asymptomatic older adults of European descent', npj Genomic Medicine, 6, http://dx.doi.org/10.1038/s41525-021-00211-x
,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, 'Titin mutations and female sex characterize dilated cardiomyopathy in the elderly', EUROPEAN HEART JOURNAL SUPPLEMENTS, 23, pp. G153 - +, http://dx.doi.org/10.1093/eurheartj/suab142.006
,2021, 'Abstract 9924: Polygenic Risk Score for PR Interval is Associated with Increased Risk of Ischemic Stroke', Circulation, 144, http://dx.doi.org/10.1161/circ.144.suppl_1.9924
,2021, 'Phenotypic Expression, Natural History, and Risk Stratification of Cardiomyopathy Caused by Filamin C Truncating Variants', Circulation, 144, pp. 1600 - 1611, http://dx.doi.org/10.1161/CIRCULATIONAHA.121.053521
,2021, 'Spontaneous Coronary Artery Dissection (SCAD) and a family history of aortic artery dissection, a case series', European Heart Journal, 42, http://dx.doi.org/10.1093/eurheartj/ehab724.2787
,2021, 'Contribution of Noncanonical Splice Variants to TTN Truncating Variant Cardiomyopathy', Circulation: Genomic and Precision Medicine, 14, pp. E003389, http://dx.doi.org/10.1161/CIRCGEN.121.003389
,2021, 'Precision Medicine Approaches to Cardiac Arrhythmias: JACC Focus Seminar 4/5 (vol 77, pg 2573, 2021)', JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 78, http://dx.doi.org/10.1016/j.jacc.2021.05.032
,2021, 'Contemporary and Future Approaches to Precision Medicine in Inherited Cardiomyopathies: JACC Focus Seminar 3/5', Journal of the American College of Cardiology, 77, pp. 2551 - 2572, http://dx.doi.org/10.1016/j.jacc.2020.12.072
,2021, 'Precision Medicine Approaches to Cardiac Arrhythmias: JACC Focus Seminar 4/5', Journal of the American College of Cardiology, 77, pp. 2573 - 2591, http://dx.doi.org/10.1016/j.jacc.2021.03.325
,2021, 'Conserved Role of the Large Conductance Calcium-Activated Potassium Channel, K
2021, 'Cardiac Gq Receptors and Calcineurin Activation Are Not Required for the Hypertrophic Response to Mechanical Left Ventricular Pressure Overload', Frontiers in Cell and Developmental Biology, 9, http://dx.doi.org/10.3389/fcell.2021.639509
,2021, 'Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program', Nature, 590, pp. 290 - 299, http://dx.doi.org/10.1038/s41586-021-03205-y
,2021, 'Mechanisms of TTNtv-related dilated cardiomyopathy: Insights from zebrafish models', Journal of Cardiovascular Development and Disease, 8, pp. 1 - 18, http://dx.doi.org/10.3390/jcdd8020010
,2021, 'In vitro cell stretching technology (IsoStretcher) as an approach to unravel Piezo1-mediated cardiac mechanotransduction', Progress in Biophysics and Molecular Biology, 159, pp. 22 - 33, http://dx.doi.org/10.1016/j.pbiomolbio.2020.07.003
,2021, 'Long-Term Efficacy and Safety of Sodium Channel Antagonists in Patients With p.R222Q SCN5A-Related Arrhythmic Dilated Cardiomyopathy', JACC: Clinical Electrophysiology, 7, pp. 126 - 128, http://dx.doi.org/10.1016/j.jacep.2020.09.023
,2021, 'Spontaneous Coronary Artery Dissection and Fibromuscular Dysplasia: Vasculopathies With a Predilection for Women', Heart Lung and Circulation, 30, pp. 27 - 35, http://dx.doi.org/10.1016/j.hlc.2020.05.110
,2021, 'Arrhythmias are a Requisite Feature of SCN5A Mediated Dilated Cardiomyopathy: A Systematic Review of Variants', Heart, Lung and Circulation, 30, pp. S95 - S95, http://dx.doi.org/10.1016/j.hlc.2021.06.015
,2021, 'Modelling Spontaneous Coronary Artery Dissection With iPSC-Derived Vascular Cells', Heart, Lung and Circulation, 30, pp. S131 - S131, http://dx.doi.org/10.1016/j.hlc.2021.06.089
,2021, 'Recent Updates on Spontaneous Coronary Artery Dissection and Fibromuscular Dysplasia', International Journal of Integrative Cardiology, 3, http://dx.doi.org/10.47275/2690-862x-121
,2021, 'Spontaneous Coronary Artery Dissection (SCAD) and a Family History of Aortic Artery Dissection—A Case Series', Heart, Lung and Circulation, 30, pp. S252 - S252, http://dx.doi.org/10.1016/j.hlc.2021.06.350
,2021, 'TTNtv Carriers do not Have Increased Susceptibility to Chemotherapy-Induced Cardiomyopathy', Heart, Lung and Circulation, 30, pp. S97 - S97, http://dx.doi.org/10.1016/j.hlc.2021.06.018
,2020, 'Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction', Nature Communications, 11, http://dx.doi.org/10.1038/s41467-020-15706-x
,2020, 'Spontaneous Coronary Artery Dissection: Insights on Rare Genetic Variation From Genome Sequencing', Circulation: Genomic and Precision Medicine, 13, pp. E003030, http://dx.doi.org/10.1161/CIRCGEN.120.003030
,2020, 'Genetic Susceptibility to Atrial Fibrillation Is Associated With Atrial Electrical Remodeling and Adverse Post-Ablation Outcome', JACC: Clinical Electrophysiology, 6, pp. 1509 - 1521, http://dx.doi.org/10.1016/j.jacep.2020.05.031
,2020, 'Clinical Phenotypes and Prognosis of Dilated Cardiomyopathy Caused by Truncating Variants in the TTN Gene', Circulation: Heart Failure, 13, pp. E006832, http://dx.doi.org/10.1161/CIRCHEARTFAILURE.119.006832
,2020, 'Patients With Genetic Heart Disease and COVID-19: A Cardiac Society of Australia and New Zealand (CSANZ) Consensus Statement', Heart Lung and Circulation, 29, pp. e85 - e87, http://dx.doi.org/10.1016/j.hlc.2020.04.006
,2020, 'Amyloid Cardiomyopathy', Heart Lung and Circulation, 29, pp. 575 - 583, http://dx.doi.org/10.1016/j.hlc.2019.11.019
,2020, 'Familial Dilated Cardiomyopathy', Heart Lung and Circulation, 29, pp. 566 - 574, http://dx.doi.org/10.1016/j.hlc.2019.11.018
,2020, 'Polygenic Risk Scores in Coronary Artery Disease and Atrial Fibrillation', Heart Lung and Circulation, 29, pp. 634 - 640, http://dx.doi.org/10.1016/j.hlc.2019.12.004
,2020, 'De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population.', Proc Natl Acad Sci U S A, 117, pp. 2560 - 2569, http://dx.doi.org/10.1073/pnas.1902766117
,2020, 'Variants of Uncertain Significance and “Missing Pathogenicity”', Journal of the American Heart Association, 9, http://dx.doi.org/10.1161/JAHA.119.015588
,2020, '002 Titin Truncation Provides a Sensitised Template for Cardio-Depressant Effects of Alcohol', Heart, Lung and Circulation, 29, pp. S37 - S38, http://dx.doi.org/10.1016/j.hlc.2020.09.009
,2020, '055 Prevalence and Patient Awareness of Cardiovascular Risk Factors in a Community-Based Australian Cohort', Heart, Lung and Circulation, 29, pp. S62 - S62, http://dx.doi.org/10.1016/j.hlc.2020.09.062
,2019, 'Precision Medicine in the Management of Dilated Cardiomyopathy: JACC State-of-the-Art Review', Journal of the American College of Cardiology, 74, pp. 2921 - 2938, http://dx.doi.org/10.1016/j.jacc.2019.10.011
,2019, 'P5540Familial clustering of spontaneous coronary artery dissection', European Heart Journal, 40, http://dx.doi.org/10.1093/eurheartj/ehz746.0486
,2019, 'Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy', Genetics in Medicine, 21, pp. 650 - 662, http://dx.doi.org/10.1038/s41436-018-0084-7
,2019, 'Association of the PHACTR1/EDN1 Genetic Locus With Spontaneous Coronary Artery Dissection', Journal of the American College of Cardiology, 73, pp. 58 - 66, http://dx.doi.org/10.1016/j.jacc.2018.09.085
,2019, 'A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy', Genetics in Medicine, 21, pp. 133 - 143, http://dx.doi.org/10.1038/s41436-018-0036-2
,2019, 'Arrhythmic Genotypes in Familial Dilated Cardiomyopathy: Implications for Genetic Testing and Clinical Management', Heart Lung and Circulation, 28, pp. 31 - 38, http://dx.doi.org/10.1016/j.hlc.2018.09.010
,2019, 'Genetics of atrial cardiomyopathy', Current Opinion in Cardiology, 34, pp. 275 - 281, http://dx.doi.org/10.1097/HCO.0000000000000610
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