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Conference Papers
, 2022, 'Influence of sex on cardiovascular outcomes in RBM20 variant carriers', in EUROPEAN HEART JOURNAL, OXFORD UNIV PRESS, pp. 1744 - 1744, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000894947900919&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2014, 'A lamin A/C Synonymous Mutation Creates a Novel Splice Site and Causes Progressive Atrioventricular Conduction Defect', in CIRCULATION, LIPPINCOTT WILLIAMS & WILKINS, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000209790204220&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2014, 'EVOLUTION OF THE GENETICS REVOLUTION IN FAMILIAL CARDIOMYOPATHIES', in INTERNAL MEDICINE JOURNAL, WILEY-BLACKWELL, pp. 16 - 16, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000335884600064&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2013, 'Critical Role of RhoA/ROCK Signaling in Cardiac Contractility', in CIRCULATION, LIPPINCOTT WILLIAMS & WILKINS, TX, Dallas, presented at Scientific Sessions and Resuscitation Science Symposium of the American-Heart-Association, TX, Dallas, 16 November 2013 - 17 November 2013, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000332162903138&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2013, 'Transient Receptor Potential Channel 6 (TRPC6) Is An Important Mediator Of Mechanical Stretch Responses In The Atrial Endocardial Endothelium', in CIRCULATION RESEARCH, LIPPINCOTT WILLIAMS & WILKINS, NV, Las Vegas, presented at Scientific Sessions of the American-Heart-Association on Basic Cardiovascular Sciences, NV, Las Vegas, 22 July 2013 - 25 July 2013, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000332063200041&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2011, 'Lamin A/C Deficiency is Associated with Fat Infiltration of Muscle and Bone: A Proposed Model of Sarco-Osteopenia.', in JOURNAL OF THE AMERICAN GERIATRICS SOCIETY, WILEY-BLACKWELL, MD, National Harbor, pp. S78 - S78, presented at Annual Scientific Meeting on the American-Geriatrics-Society, MD, National Harbor, 11 May 2011 - 14 May 2011, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000289524600227&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2010, 'alpha,-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects', in JOURNAL OF MEDICAL GENETICS, B M J PUBLISHING GROUP, RI, Warwick, pp. S76 - S76, presented at British Human Genetics Conference, RI, Warwick, 06 September 2010 - 08 September 2010, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000283762600155&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2009, 'Exercise has a Deleterious Effect on Bone Quality in Lamin A/C-Deficient Mice', in Journal of the American Geriatrics Society, Blackwell Publishing Inc, Malden, MA, pp. S11 - S11, presented at American Geriatrics Society (AGS) 2009 Annual Scientific Meeting, Chicago, Illinois, USA, 29 April 2009 - 03 May 2009
, 2008, 'alpha-cardiac myosin heavy chain (MYH6) mutations are associated with congenital heart defects', in Journal of Medical Genetics, B M J Publishing Group, London, England, pp. S86 - S86, presented at Journal of Medical Genetics
, 2008, 'Left Ventricular Hypertrophy Is Resistant to Inhibition of Expression of the R403Q Alpha-Myosin Heavy Chain Cardiac Hypertrophy-Inducing Mutant Protein', in Circulation, Lippincott Williams & Wilkins, Philadelphia, PA, USA, pp. S423 - S423
, 2007, 'Interaction between a KCNQ1 mutation and cell stretch in familial atrial fibrillation', in BIOPHYSICAL JOURNAL, BIOPHYSICAL SOCIETY, MD, Baltimore, pp. 463A - 463A, presented at 51st Annual Meeting of the Biophysical-Society, MD, Baltimore, 03 March 2007 - 07 March 2007, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000243972403011&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2000, 'Cyclosporin A and minoxidil exacerbate cardiac hypertrophy in hypertrophic cardiomyopathy via a calcium-mediated pathway', in CIRCULATION, LIPPINCOTT WILLIAMS & WILKINS, pp. 98 - 98, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000090072300463&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2000, 'Dilated cardiomyopathy, Emery-Dreifuss muscular dystrophy and partial lipodystrophy: Structure function relationships in lamin A/C', in CIRCULATION, LIPPINCOTT WILLIAMS & WILKINS, pp. 280 - 280, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000090072301368&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2000, 'Dilated cardiomyopathy and sensorineural hearing loss: A heritable syndrome that maps to 6q23-24', in PEDIATRIC RESEARCH, NATURE PUBLISHING GROUP, pp. 46A - 46A, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000086155300270&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 1999, 'Dilated cardiomyopathy and sensorineurinal hearing loss: A heritable syndrome, that maps to 6q23-24', in CIRCULATION, LIPPINCOTT WILLIAMS & WILKINS, pp. 618 - 619, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000083417103257&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 1999, 'Disruption of the ventricle-specific homeobox gene lrx4 in mice leads to cardiac dysfunction and hypertrophy', in CIRCULATION, LIPPINCOTT WILLIAMS & WILKINS, pp. 347 - 348, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000083417101821&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 1999, 'Electrophysiological characterization of familial hypertrophic cardiomyopathy mice with mutant myosin binding protein C gene', in CIRCULATION, LIPPINCOTT WILLIAMS & WILKINS, pp. 207 - 207, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000083417101071&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 1999, 'Evaluation of cardiac structure and function in two moose models of familial hypertrophic cardiomyopathy', in CIRCULATION, LIPPINCOTT WILLIAMS & WILKINS, pp. 494 - 494, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000083417102599&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 1998, 'Exercise and beta-blocker therapy in alpha-myosin heavy chain mutant mice with hypertrophic cardiomyopathy', in CIRCULATION, LIPPINCOTT WILLIAMS & WILKINS, pp. 70 - 70, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000076594400401&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 1998, 'Mice with a mutant myosin binding protein C gene provide a model for familial hypertrophic cardiomyopathy.', in CIRCULATION, LIPPINCOTT WILLIAMS & WILKINS, pp. 625 - 625, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000076594403305&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 1998, 'Familial hypertrophic cardiomyopathy and atrial fibrillation caused by Arg663His beta-cardiac myosin heavy chain mutation', in AMERICAN JOURNAL OF CARDIOLOGY, EXCERPTA MEDICA INC-ELSEVIER SCIENCE INC, GERMANY, BADEN BADEN, pp. 13H - 18H, presented at Symposium on From Increased Energy Metabolism to Cardiac Hypertrophy and Failure - Mediators and Molecular Mechanisms, GERMANY, BADEN BADEN, 25 September 1998 - 27 September 1998
, 1997, 'A familial atrial septal defect gene maps to chromosome 5p: Evidence for reduced gene penetrance, variable expressivity and genetic heterogeneity', in CIRCULATION, AMER HEART ASSOC, pp. 76 - 76, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:A1997YC88000076&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 1997, 'Characterization of cardiac structure and function in the homozygous alpha-myosin heavy chain (Arg403Gln) mutant mouse', in CIRCULATION, AMER HEART ASSOC, pp. 3186 - 3186, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:A1997YC88003167&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 1997, 'Noninvasive in vivo assessment of cardiac function in the neonatal murine heart using high frequency (50 MHz) ultrasound backscatter microscopy', in CIRCULATION, AMER HEART ASSOC, pp. 4144 - 4144, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:A1997YC88004110&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
Conference Posters
, 2024, 'Cardiac magnetic resonance imaging for the early diagnosis of AL cardiomyopathy: a case series', MN, Rochester, Vol. 31, pp. S182 - S182, presented at 19th International Symposium on Amyloidosis (ISA), MN, Rochester, 26 May 2024 - 30 May 2024
, 2024, 'Diagnosing transthyretin amyloidosis: a single centre experience with histopathological diagnosis', MN, Rochester, Vol. 31, pp. S238 - S238, presented at 19th International Symposium on Amyloidosis (ISA), MN, Rochester, 26 May 2024 - 30 May 2024
, 2024, 'The prevalence of frailty and association with disease severity in transthyretin amyloid cardiomyopathy', MN, Rochester, Vol. 31, pp. S106 - S106, presented at 19th International Symposium on Amyloidosis (ISA), MN, Rochester, 26 May 2024 - 30 May 2024
, 'Cardiac transplantation for transthyretin amyloidosis (ATTR): A single centre experience PB152 (#446)', http://dx.doi.org/10.26226/m.65f9bf8be6f73964e1d4f5b7
Conference Abstracts
, 2025, 'Atrial Structure and Function in Subjects With DCM-Associated Truncating Titin Gene Variants', in Heart, Lung and Circulation, Elsevier BV, Vol. 34, pp. S111 - S111, http://dx.doi.org/10.1016/j.hlc.2025.06.039
, 2025, 'Bradycardia and Pauses in Athletes: Prevalence, Mechanisms and Risks', in Heart, Lung and Circulation, Elsevier BV, Vol. 34, pp. S112 - S113, http://dx.doi.org/10.1016/j.hlc.2025.06.040
, 2025, 'The Spatial Distribution and Pathogenicity of Variants in the Human Transthyretin Gene Associated With Amyloidosis', in Heart, Lung and Circulation, Elsevier BV, Vol. 34, pp. S113 - S114, http://dx.doi.org/10.1016/j.hlc.2025.06.041
, 2024, 'Deep Phenotyping of Obesity Cardiomyopathy', in Heart, Lung and Circulation, Elsevier BV, Vol. 33, pp. S180 - S180, http://dx.doi.org/10.1016/j.hlc.2024.06.119
, 2024, 'Early diagnosis of Titin Cardiomyopathy', in Heart, Lung and Circulation, Elsevier BV, Vol. 33, pp. S310 - S310, http://dx.doi.org/10.1016/j.hlc.2024.06.401
, 2024, 'Genetic and Echocardiographic Determinants of Atrial Fibrillation in Athletes', in Heart Lung and Circulation, Elsevier, Vol. 33, pp. s129, http://dx.doi.org/10.1016/j.hlc.2024.06.018
, 2024, 'Investigating the Role of Genes and the Environment in Heart Failure With Preserved Ejection Fraction', in Heart, Lung and Circulation, Elsevier BV, Vol. 33, pp. S129 - S130, http://dx.doi.org/10.1016/j.hlc.2024.06.019
, 2024, 'Rare Genetic Variants in Heart Failure with Preserved Ejection Fraction (HFpEF)', in Heart, Lung and Circulation, Elsevier BV, Vol. 33, pp. S104 - S105, http://dx.doi.org/10.1016/j.hlc.2024.04.185
, 2023, 'Environmental Factors Influence the Natural History of Genetic Dilated Cardiomyopathy', in Heart Lung and Circulation, Elsevier, Vol. 32, pp. s113, http://dx.doi.org/10.1016/j.hlc.2023.06.731
, 2023, 'Prevalence of Incidental Amyloid on Cardiac Explants', in The Journal of Heart and Lung Transplantation, Elsevier, Vol. 42, pp. s427 - s428, http://dx.doi.org/10.1016/j.healun.2023.02.1104
, 2023, 'Prevalence of Rare Genetic Variants in Cardiomyopathy-associated Genes and Association With Cardiac Phenotype in Endurance Athletes', in Heart, Lung and Circulation, Elsevier BV, Vol. 32, pp. S127 - S127, http://dx.doi.org/10.1016/j.hlc.2023.06.759
, 2022, 'GWAS Meta-Analysis in SCAD, a Women Predominant Ischemic Heart Disease, Reveals Common Variants and Genes Related to Artery Integrity and Tissue-Mediated Coagulation', in Circulation, Lippincott, Williams & Wilkins, IL, Chicago, Vol. 146, presented at Scientific Sessions of the American-Heart-Association / Resuscitation Science Symposium, IL, Chicago, 05 November 2022 - 06 November 2022, https://www.ahajournals.org/doi/10.1161/circ.146.suppl_1.12681
, 2022, 'Heritable defects in telomere and mitotic function selectively predispose to sarcomas', in CANCER SCIENCE, WILEY, Vol. 113, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000778583800159&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2022, 'NSW HEARTS: The NSW Inherited Cardiomyopathy Cohort Study protocol', in Heart, Lung and Circulation, Elsevier BV, Vol. 31, pp. S4 - S4, http://dx.doi.org/10.1016/j.hlc.2022.04.010
, 2022, 'Role of Endomyocardial Biopsy and Mass Spectrometry for Precision in Cardiac Amyloid Subtyping: A Case Series', in Heart, Lung and Circulation, Elsevier BV, Vol. 31, pp. S99 - S100, http://dx.doi.org/10.1016/j.hlc.2022.06.123
, 2021, '418 Titin mutations and female sex characterize dilated cardiomyopathy in the elderly', in European Heart Journal Supplements, Oxford University Press (OUP), Vol. 23, pp. suab142.006, http://dx.doi.org/10.1093/eurheartj/suab142.006
, 2021, 'Abstract 11949: Disease-Specific and Comorbidity-Related Polygenic Risk in Spontaneous Coronary Artery Dissection', in Circulation, Wolters Kluwer, Vol. 144, pp. a11949 - a11949, http://dx.doi.org/10.1161/circ.144.suppl_1.11949
, 2020, 'Chronic alcohol exposure exacerbates cardiac dysfunction in TTNtv-related dilated cardiomyopathy', in Journal of Molecular and Cellular Cardiology, Elsevier, Vol. 140, pp. 23, http://dx.doi.org/10.1016/j.yjmcc.2019.11.053
, 2020, 'SEQUENCE VARIANTS IN TITIN CAUSING SPLICING DEFECTS AND CARDIOMYOPATHY: INSIGHTS FOR GENE BASED DIAGNOSIS AND NORMAL PHYSIOLOGY', in Journal of the American College of Cardiology, Elsevier, Vol. 75, pp. 663, http://dx.doi.org/10.1016/s0735-1097(20)31290-0
, 2019, 'Familial clustering of spontaneous coronary artery dissection', in EUROPEAN HEART JOURNAL, OXFORD UNIV PRESS, FRANCE, Paris, Vol. 40, pp. 3414 - 3414, presented at Congress of the European-Society-of-Cardiology (ESC) / World Congress of Cardiology, FRANCE, Paris, 31 August 2019 - 04 September 2019, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000507313003083&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2019, 'Genetic Susceptibility to Atrial Fibrillation at the chr 4q25 Locus is Associated with Left Atrial Electrical Remodelling', in Heart, Lung and Circulation, Elsevier BV, Vol. 28, pp. S132 - S132, http://dx.doi.org/10.1016/j.hlc.2019.06.003
, 2019, 'Penetrance of Dilated Cardiomyopathy in Families with Truncating TTN Variants: a National Perspective', in Heart Lung and Circulation, Elsevier, Vol. 28, pp. s140, http://dx.doi.org/10.1016/j.hlc.2019.06.019