Select Publications
Journal articles
1993, 'DOES EXCLUSION OF ATRIAL THROMBUS BY TRANSESOPHAGEAL ECHOCARDIOGRAPHY PRECLUDE EMBOLISM AFTER CARDIOVERSION - A MULTICENTER STUDY', CIRCULATION, 88, pp. 314 - 314, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:A1993MA68201717&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,1993, 'Percutaneous balloon mitral valvotomy with the Inoue single-balloon catheter: Commissural morphology as a determinant of outcome', Journal of the American College of Cardiology, 21, pp. 390 - 397, http://dx.doi.org/10.1016/0735-1097(93)90680-Y
,1992, 'HEMATOLOGICAL CORRELATES OF SPONTANEOUS ECHO CONTRAST', CIRCULATION, 86, pp. 397 - 397, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:A1992JT66001605&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,1991, 'Arrhythmogenic right ventricular dysplasia', Australian and New Zealand Journal of Medicine, 21, pp. 451 - 453, http://dx.doi.org/10.1111/j.1445-5994.1991.tb01352.x
,1980, 'Glycerol treatment in mammalian skeletal muscle', The Journal of Membrane Biology, 53, pp. 223 - 233, http://dx.doi.org/10.1007/BF01868828
,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
,2022, 'Natural history of MYH7-related dilated cardiomyopathy', in EUROPEAN HEART JOURNAL, OXFORD UNIV PRESS, pp. 1745 - 1745, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000894947900920&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, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000081307900005&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,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 Abstracts
2023, 'Prevalence of Incidental Amyloid on Cardiac', in JOURNAL OF HEART AND LUNG TRANSPLANTATION, ELSEVIER SCIENCE INC, CO, Denver, Vol. 42, pp. S427 - S428, presented at 43rd Annual Meeting of International Society for Heart and Lung Transplantation (ISHLT), CO, Denver, 19 April 2023 - 22 April 2023, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000992480601218&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,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, 'Abstract 11949: Disease-Specific and Comorbidity-Related Polygenic Risk in Spontaneous Coronary Artery Dissection', in Circulation, Ovid Technologies (Wolters Kluwer Health), Vol. 144, http://dx.doi.org/10.1161/circ.144.suppl_1.11949
,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 BV, Vol. 75, pp. 663 - 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, 'Chronic alcohol exposure exacerbates cardiac dysfunction in TTNtv-related dilated cardiomyopathy', in JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY, ELSEVIER SCI LTD, PEOPLES R CHINA, Beijing, Vol. 140, pp. 23 - 23, presented at 23rd World Congress of the International-Society-for-Heart-Research (ISHR), PEOPLES R CHINA, Beijing, 03 June 2019 - 06 June 2019, http://dx.doi.org/10.1016/j.yjmcc.2019.11.053
,2018, 'Whole genome sequencing improves genetic testing outcomes in hypertrophic cardiomyopathy', in EUROPEAN JOURNAL OF HUMAN GENETICS, NATURE PUBLISHING GROUP, ITALY, Milan, Vol. 27, pp. 843 - 844, presented at 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), ITALY, Milan, 16 June 2018 - 19 June 2018, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000489313106185&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2015, 'Right ventricular function is a powerful independent predictor of adverse heart failure outcomes', in EUROPEAN HEART JOURNAL, OXFORD UNIV PRESS, ENGLAND, London, Vol. 36, pp. 830 - 831, presented at Congress of the European-Society-of-Cardiology (ESC), ENGLAND, London, 29 August 2015 - 02 September 2015, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000361205105553&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2013, 'TASK-1 potassium channel mutations in atrial fibrillation', in EUROPEAN HEART JOURNAL, OXFORD UNIV PRESS, NETHERLANDS, Amsterdam, Vol. 34, pp. 642 - 642, presented at Congress of the European-Society-of-Cardiology (ESC), NETHERLANDS, Amsterdam, 31 August 2013 - 04 September 2013, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000327744604084&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,Reports
2016, Bradycardia in Zebrafish Heart Failure: A True Physiological Response or Anesthetic-Induced Red Herring?, http://dx.doi.org/10.1089/zeb.2016.1367
,Preprints
2024, Environmental Risk Factors Influence the Natural History of Familial Dilated Cardiomyopathy, http://dx.doi.org/10.1101/2024.06.25.24309501
,2022, Genome-wide association meta-analysis of spontaneous coronary artery dissection reveals common variants and genes related to artery integrity and tissue-mediated coagulation, http://dx.doi.org/10.1101/2022.07.05.22277238
,2022, A Saturated Map of Common Genetic Variants Associated with Human Height from 5.4 Million Individuals of Diverse Ancestries, http://dx.doi.org/10.1101/2022.01.07.475305
,2021, Variant location is a novel risk factor for individuals with arrhythmogenic cardiomyopathy due to a desmoplakin (DSP) truncating variant, http://dx.doi.org/10.1101/2021.10.16.21264154
,2020, Cardiac Gq receptors and calcineurin activation are not required for the hypertrophic response to mechanical left ventricular pressure overload, http://dx.doi.org/10.1101/2020.12.08.393595
,2020, Modified N-linked glycosylation status predicts trafficking defective human Piezo1 channel mutations, http://dx.doi.org/10.1101/2020.11.30.404962
,2020, Conserved Role of the Large Conductance Calcium-Activated Potassium Channel, KCa1.1, in Sinus Node Function and Arrhythmia Risk, http://dx.doi.org/10.1101/2020.06.28.176495
,