Publications by authors named "Christopher Semsarian"

100Publications

The End Unexplained Cardiac Death (EndUCD) Registry for Young Australian Sudden Cardiac Arrest.

Heart Lung Circ 2020 Nov 13. Epub 2020 Nov 13.

Baker Heart and Diabetes Institute, Melbourne, Vic, Australia; Alfred Hospital, Melbourne, Vic, Australia; St Vincent's Hospital Melbourne, Melbourne, Vic, Australia.

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http://dx.doi.org/10.1016/j.hlc.2020.09.937DOI Listing
November 2020

Prevalence and Phenotypic Correlations of Calmodulinopathy-Causative Variants Detected in a Multi-Center Molecular Autopsy Cohort of Sudden Unexplained Death Victims.

Circ Genom Precis Med 2020 Nov 15. Epub 2020 Nov 15.

Department of Molecular Pharmacology & Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory) & Department of Cardiovascular Medicine (Division of Heart Rhythm Services) & Department of Pediatric and Adolescent Medicine (Division of Pediatric Cardiology), Mayo Clinic, Rochester, MN.

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http://dx.doi.org/10.1161/CIRCGEN.120.003032DOI Listing
November 2020

Genetic Testing for Inherited Cardiovascular Disease: Implications of the AHA Scientific Statement for Cardiologists.

Heart Lung Circ 2020 Nov 30;29(11):1581-1584. Epub 2020 Sep 30.

Department of Cardiology, Royal Prince Alfred Hospital, Sydney, NSW, Australia; Faculty of Health and Medical Sciences, University of Sydney, Sydney, NSW, Australia; Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, and The University of Sydney, Sydney, NSW, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.hlc.2020.09.001DOI Listing
November 2020

Characterization of clinically relevant copy-number variants from exomes of patients with inherited heart disease and unexplained sudden cardiac death.

Genet Med 2020 Sep 25. Epub 2020 Sep 25.

Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Sydney, NSW, Australia.

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http://dx.doi.org/10.1038/s41436-020-00970-5DOI Listing
September 2020

Cardiac arrhythmias in epilepsy: Troublemaker, accomplice, or innocent bystander?

Heart Rhythm 2020 Sep 17. Epub 2020 Sep 17.

Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Sydney, Australia; Faculty of Medicine and Health, The University of Sydney, Sidney, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.hrthm.2020.09.008DOI Listing
September 2020

"Concealed cardiomyopathy" as a cause of previously unexplained sudden cardiac arrest.

Int J Cardiol 2020 Sep 12. Epub 2020 Sep 12.

Agnes Ginges Centre for Molecular Cardiology Centenary Institute, The University of Sydney, Sydney, Australia; Faculty of Medicine and Heath, The University of Sydney, Sydney, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ijcard.2020.09.031DOI Listing
September 2020

Cardiac phenotype in -related syndromes: A multicenter cohort study.

Neurology 2020 11 10;95(21):e2866-e2879. Epub 2020 Sep 10.

From the Department of Clinical and Experimental Epilepsy (S.B., S.M.S.), UCL Queen Square Institute of Neurology, London; Chalfont Centre for Epilepsy (S.B., S.M.S.), Bucks, UK; Division of Pediatric Neurology (M.A.M., A.S.H., B.K., M.M., L.P.), Department of Neurobiology, and Division of Cardiology (M.C.), Department of Pediatrics, Duke University, School of Medicine, Durham, NC; Centre for Inherited Cardiovascular Diseases (R.A.G.-R., J.P.K.), Great Ormond Street Hospital for Children NHS Foundation Trust; Institute of Cardiovascular Science(R.A.G.-R., J.P.K.), University College London, London, UK; Child Neuropsychiatry Unit (E.D.G., A.G., L.P., M.S., E.V.), IRCCs Istituto Giannina Gaslini, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal and Child Health, DINOG-MI, University of Genoa; Department of Pediatric Neuroscience (A.G., T.G., N.N., F.R.), Fondazione IRCCS Istituto Neurologico Carlo Besta; Unit of Child Neuropsychiatry (L.P.), ASST Fatebenefratelli Sacco, Milan, Italy; Paediatric Neurology Department (J.C., C.F., L.P.-P., A.A.), Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona University, Member of the International Alternating Hemiplegia in Childhood Research Consortium IAHCRC and of the European Reference Network ERN EpiCARE, Barcelona, Spain; Department of Neurology (A.B., C.M.), Wake Forest School of Medicine, Winston-Salem, NC; Neurology Department (R.S.), Centro Hospitalar e Universitario do Porto-Hospital de Santo António, Porto, Portugal; Clinic for Child Neurology and Psychiatry (V.B., A.P.), Department of Child Neurology, Medical Faculty University of Belgrade, Serbia; Department of Human Genetics (Q.S.P.), Graduate School of Public Health, University of Pittsburgh, PA; Department of Pediatric Neurology (J.P.), Medical University of Silesia, Katowice, Poland; Clinical Neurosciences (K.V., J.H.C.), Developmental Neuroscience Programme, UCL Great Ormond Street Institute of Child Health, and Great Ormond Street Hospital for Children NHS Foundation Trust, Member of the International Alternating Hemiplegia in Childhood Research Consortium IAHCRC and of the European Reference Network ERN EpiCARE, London, UK; Sydney Children's Hospital (A.M.E.B.), Randwick; Department of Cardiology (A.M.D.), The Royal Children's Hospital, Melbourne, University of Melbourne; Department of Neurology (M.M.R.), Royal Children's Hospital, Melbourne; Agnes Ginges Centre for Molecular Cardiology (C.S.), Centenary Institute, University of Sydney; Epilepsy Research Centre (G.H., I.E.S.), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC; Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Australia; Department of Clinical Epileptology, Sleep Disorders and Functional Neurology in Children (A.A., E.P.), University Hospitals of Lyon (HCL), Member of the International Alternating Hemiplegia in Childhood Research Consortium IAHCRC and of the European Reference Network ERN EpiCARE, Lyon, France; Paediatric Neurology Unit (I.C.), CMIN, Centro Hospitalar e Universitario Porto, Porto, Portugal; Clinical Neurophysiology Unit (C.Z.), IRCCS "E. Medea," Bosisio Parini (LC), Italy; Department of Neurology (J.N.), CHUV and Université de Lausanne, Switzerland; Second Department of Neurology (K.D.), Institute Psychiatry and Neurology, Warsaw, Poland; Association AHC18+ e. V. (Germany) and Polish Association for People Affected by AHC, ahc-pl (M.P.); Department of Developmental Neurology (M.M.B.), Medical University of Gdańsk, Poland; Neurology Department (S.W.), University Hospital Antwerp; Neurogenetics Group (S.W.), University Antwerp, Belgium; First Department of Pediatrics (R.P.), "Agia Sofia" Children Hospital, National & Kapodistrian University of Athens, Greece; Department of Neurology (S.G.), University Medical Center of the Johannes Gutenberg University Mainz, Germany; Ion Channel Research Unit (D.S.S.), Department of Medicine/Cardiology and Pharmacology, Duke University Medical Center, Durham, NC; Cardiovascular Research Institute (G.S.P.), Weill Cornell Medical College, New York, NY; The Heart Centre (A.T.), Queen Mary University of London; Department of Pathology (M.A.), Great Ormond Street Hospital for Children NHS Foundation Trust; Department of Neuropathology (Z.M., M.T.), Institute of Neurology, University College London, UK; and ICT and Data Analysis Section (R.V.), Euro-Mediterranean Institute of Science and Technology (I.E.ME.S.T.), Palermo, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000010794DOI Listing
November 2020

Clinical Utility of a Phenotype-Enhanced -Specific Variant Classification Framework in Hypertrophic Cardiomyopathy Genetic Testing.

Circ Genom Precis Med 2020 Oct 7;13(5):453-459. Epub 2020 Sep 7.

Department of Molecular Pharmacology and Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic Graduate School of Biomedical Sciences (C.L.M., J.M.B., M.J.A.), Mayo Clinic, Rochester, MN.

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http://dx.doi.org/10.1161/CIRCGEN.120.003039DOI Listing
October 2020

Prognostic impact of atrial fibrillation in hypertrophic cardiomyopathy: a systematic review.

Clin Res Cardiol 2020 Sep 3. Epub 2020 Sep 3.

Department of Cardiology, Westmead Hospital, Corner Hawkesbury and Darcy Roads, Westmead, Sydney, NSW, 2145, Australia.

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http://dx.doi.org/10.1007/s00392-020-01730-wDOI Listing
September 2020

Current Practice of Genetic Testing and Counselling in Congenital Heart Disease: An Australian Perspective.

Heart Lung Circ 2020 Nov 29;29(11):1733-1736. Epub 2020 Aug 29.

Heart Centre for Children, The Children's Hospital at Westmead, Sydney, NSW, Australia; Sydney Medical School, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.hlc.2020.07.013DOI Listing
November 2020

Variable Penetrance in Hypertrophic Cardiomyopathy: In Search of the Holy Grail.

J Am Coll Cardiol 2020 Aug;76(5):560-562

Agnes Ginges Centre for Molecular Cardiology at Centenary Institute and Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1016/j.jacc.2020.06.023DOI Listing
August 2020

Mind the gap: Knowledge deficits in evaluating young sudden cardiac death.

Heart Rhythm 2020 Dec 25;17(12):2208-2214. Epub 2020 Jul 25.

Clinical Research Domain, Baker Heart & Diabetes Institute, Melbourne, Australia; National Centre for Sports Cardiology, St Vincent's Hospital Melbourne, Fitzroy, Australia.

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http://dx.doi.org/10.1016/j.hrthm.2020.07.029DOI Listing
December 2020

Needs analysis of parents following sudden cardiac death in the young.

Open Heart 2020 07;7(2)

Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Sydney, NSW, Australia

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http://dx.doi.org/10.1136/openhrt-2019-001120DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7380729PMC
July 2020

When do athletes benefit from cardiac genetic testing?

Br J Sports Med 2020 Aug 27;54(15):939-940. Epub 2020 Mar 27.

Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1136/bjsports-2020-101985DOI Listing
August 2020

Genetic Cardiovascular Conditions - It's All About Family.

Heart Lung Circ 2020 Apr;29(4):495-497

Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, University of Sydney, Sydney, NSW, Australia; Faculty of Medicine and Health, University of Sydney, NSW, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, NSW, Australia.

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http://dx.doi.org/10.1016/j.hlc.2020.02.001DOI Listing
April 2020

Triadin Knockout Syndrome Is Absent in a Multi-Center Molecular Autopsy Cohort of Sudden Infant Death Syndrome and Sudden Unexplained Death in the Young and Is Extremely Rare in the General Population.

Circ Genom Precis Med 2020 04 13;13(2):e002731. Epub 2020 Mar 13.

Windland Smith Rice Sudden Death Genomics Laboratory, Department of Molecular Pharmacology and Experimental Therapeutics (D.J.C., D.J.T., S.M.D., M.J.A.), Mayo Clinic, Rochester, MN.

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http://dx.doi.org/10.1161/CIRCGEN.119.002731DOI Listing
April 2020

Cardiac screening of athletes: consensus needed for clinicians on indications for follow-up echocardiography testing.

Br J Sports Med 2020 Aug 26;54(15):936-938. Epub 2020 Feb 26.

Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia

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http://dx.doi.org/10.1136/bjsports-2019-101916DOI Listing
August 2020

Time to Rethink the Genetic Architecture of Long QT Syndrome.

Circulation 2020 02 10;141(6):440-443. Epub 2020 Feb 10.

Agnes Ginges Centre for Molecular Cardiology at Centenary Institute and Faculty of Medicine and Health, The University of Sydney, and Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia.

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http://dx.doi.org/10.1161/CIRCULATIONAHA.119.044760DOI Listing
February 2020

Cardiovascular Screening of Elite Athletes by Sporting Organizations in Australia: A Survey of Chief Medical Officers.

Clin J Sport Med 2020 Feb 17. Epub 2020 Feb 17.

Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, The University of Sydney, Sydney, Australia.

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http://dx.doi.org/10.1097/JSM.0000000000000798DOI Listing
February 2020

Brugada Syndrome: Clinical Care Amidst Pathophysiological Uncertainty.

Heart Lung Circ 2020 Apr 17;29(4):538-546. Epub 2019 Dec 17.

Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, NSW, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.hlc.2019.11.016DOI Listing
April 2020

Epidemiology and clinical characteristics of atrial fibrillation in patients with inherited heart diseases.

J Cardiovasc Electrophysiol 2020 02 16;31(2):465-473. Epub 2020 Jan 16.

Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Sydney, Australia.

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http://dx.doi.org/10.1111/jce.14346DOI Listing
February 2020

Utility of genetic testing in athletes.

Clin Cardiol 2020 Aug 11;43(8):915-920. Epub 2020 Jan 11.

Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, New South Wales, Australia.

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http://dx.doi.org/10.1002/clc.23289DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7403674PMC
August 2020

Why We Might Not Need to Stress About Ruling Out Inducible Myocardial Ischemia.

Ann Intern Med 2020 02 7;172(3):214-215. Epub 2020 Jan 7.

Bond University, Gold Coast, Queensland, Australia (J.D.).

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http://dx.doi.org/10.7326/M19-3731DOI Listing
February 2020

Evaluation After Sudden Death in the Young: A Global Approach.

Circ Arrhythm Electrophysiol 2019 08 19;12(8):e007453. Epub 2019 Aug 19.

Cardiology Clinical Academic Group, St. George's University of London (B.G., E.R.B.).

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http://dx.doi.org/10.1161/CIRCEP.119.007453DOI Listing
August 2019

Overdiagnosis of left ventricular non-compaction in adults: the data tells the story.

Eur Heart J 2019 10;40(38):3206

Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1093/eurheartj/ehz535DOI Listing
October 2019

Making the case for cascade screening among families with inherited heart disease.

Heart Rhythm 2020 01 13;17(1):113-114. Epub 2019 Jul 13.

Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Sydney, Australia; Faculty of Medicine and Health, The University of Sydney, Sydney, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.hrthm.2019.07.014DOI Listing
January 2020

Sudden cardiac death: an update.

Intern Med J 2019 07;49(7):826-833

Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1111/imj.14359DOI Listing
July 2019

Screening children at risk for hypertrophic cardiomyopathy: balancing benefits and harms.

Eur Heart J 2019 12;40(45):3682-3684

Cardiovascular Division, Brigham and Women's Hospital, Boston, MA, USA.

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http://dx.doi.org/10.1093/eurheartj/ehz487DOI Listing
December 2019

Cardiovascular genomics and sudden cardiac death in the young.

Aust J Gen Pract 2019 03;48(3):90-95

MBBS, PhD, MPH, Cardiologist and Professor of Medicine, Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, NSW; Faculty of Medicine and Health, University of Sydney, Sydney, NSW; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, NSW.

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http://dx.doi.org/10.31128/AJGP-09-18-4715DOI Listing
March 2019

A systematic review and meta-analysis of the prevalence of left ventricular non-compaction in adults.

Eur Heart J 2020 Apr;41(14):1428-1436

Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Sydney 2050, New South Wales, Australia.

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http://dx.doi.org/10.1093/eurheartj/ehz317DOI Listing
April 2020

An Unexpected FLNC Phenotype: Expanding the Clinical Spectrum or a Second-Hit Disease Mechanism?

Mayo Clin Proc 2019 05;94(5):751-753

Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, Faculty of Medicine and Health, Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.mayocp.2019.03.015DOI Listing
May 2019

Correction: Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment.

Genet Med 2019 May;21(5):1264

Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, Australia.

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http://dx.doi.org/10.1038/gim.2018.21DOI Listing
May 2019

Characterization of the first induced pluripotent stem cell line generated from a patient with autosomal dominant catecholaminergic polymorphic ventricular tachycardia due to a heterozygous mutation in cardiac calsequestrin-2.

Stem Cell Res 2019 05 25;37:101450. Epub 2019 Apr 25.

Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, The University of Sydney, Sydney, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S18735061193008
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http://dx.doi.org/10.1016/j.scr.2019.101450DOI Listing
May 2019

ECG-based cardiac screening programs: Legal, ethical, and logistical considerations.

Heart Rhythm 2019 10 29;16(10):1584-1591. Epub 2019 Mar 29.

Faculty of Medicine and Health, University of Sydney, Sydney, Australia; Centenary Institute, Royal Prince Alfred Hospital, Sydney, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.hrthm.2019.03.025DOI Listing
October 2019

Response by Ingles and Semsarian to Letter Regarding Article, "Concealed Arrhythmogenic Right Ventricular Cardiomyopathy in Sudden Unexplained Cardiac Death Events".

Circ Genom Precis Med 2019 03;12(3):e002475

Agnes Ginges Centre for Molecular Cardiology at Centenary Institute and Faculty of Health and Medical Sciences, The University of Sydney, Australia. Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia.

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http://dx.doi.org/10.1161/CIRCGEN.119.002475DOI Listing
March 2019

Perceptions of genetic variant reclassification in patients with inherited cardiac disease.

Eur J Hum Genet 2019 07 21;27(7):1134-1142. Epub 2019 Mar 21.

Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Sydney, NSW, Australia.

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http://dx.doi.org/10.1038/s41431-019-0377-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777462PMC
July 2019

Genome sequencing for sale on the NHS.

BMJ 2019 Feb 25;364:l789. Epub 2019 Feb 25.

Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, University of Sydney, Sydney NSW 2042, Australia.

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http://dx.doi.org/10.1136/bmj.l789DOI Listing
February 2019

Evaluating a custom-designed aid to improve communication of genetic results in families with hypertrophic cardiomyopathy: study protocol for a randomised controlled trial.

BMJ Open 2019 02 1;9(1):e026627. Epub 2019 Feb 1.

Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Newtown, NSW, Australia.

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http://dx.doi.org/10.1136/bmjopen-2018-026627DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6361342PMC
February 2019

Key Value of RNA Analysis of MYBPC3 Splice-Site Variants in Hypertrophic Cardiomyopathy.

Circ Genom Precis Med 2019 01;12(1):e002368

Agnes Ginges Centre for Molecular Cardiology Centenary Institute, The University of Sydney, Australia (E.S.S., J.I., C.S., R.D.B.).

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https://www.ahajournals.org/doi/10.1161/CIRCGEN.118.002368
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http://dx.doi.org/10.1161/CIRCGEN.118.002368DOI Listing
January 2019

Concealed Arrhythmogenic Right Ventricular Cardiomyopathy in Sudden Unexplained Cardiac Death Events.

Circ Genom Precis Med 2018 11;11(11):e002355

Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Australia (J.I., R.D.B., L.Y., C.S.).

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http://dx.doi.org/10.1161/CIRCGEN.118.002355DOI Listing
November 2018

Development of induced pluripotent stem cells from a patient with hypertrophic cardiomyopathy who carries the pathogenic myosin heavy chain 7 mutation p.Arg403Gln.

Stem Cell Res 2018 12 28;33:269-273. Epub 2018 Nov 28.

Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, Australia; Sydney Medical School, University of Sydney, Sydney, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2018.11.011DOI Listing
December 2018

Sudden Cardiac Death and Ventricular Arrhythmias in Hypertrophic Cardiomyopathy.

Heart Lung Circ 2019 Jan 24;28(1):146-154. Epub 2018 Sep 24.

Sydney Medical School, University of Sydney, Sydney, NSW, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, NSW, Australia. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S14439506183190
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http://dx.doi.org/10.1016/j.hlc.2018.07.019DOI Listing
January 2019

Misclassification of cricket in the American College of Cardiology (ACC) Task Force classification of sports.

Br J Sports Med 2020 Apr 20;54(8):491-492. Epub 2018 Oct 20.

Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1136/bjsports-2018-099865DOI Listing
April 2020

Post-Mortem Imaging Adjudicated Sudden Death: Causes and Controversies.

Heart Lung Circ 2019 Jan 29;28(1):15-21. Epub 2018 Sep 29.

Department of Cardiology, Royal Prince Alfred Hospital, Sydney, NSW, Australia; Faculty of Medicine, University of Sydney, Sydney, NSW, Australia.

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http://dx.doi.org/10.1016/j.hlc.2018.09.003DOI Listing
January 2019

Psychological adaptation to molecular autopsy findings following sudden cardiac death in the young.

Genet Med 2019 06 16;21(6):1452-1456. Epub 2018 Oct 16.

Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Sydney, Australia.

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http://dx.doi.org/10.1038/s41436-018-0338-4DOI Listing
June 2019

Generation of an induced pluripotent stem cell line from a hypertrophic cardiomyopathy patient with a pathogenic myosin binding protein C (MYBPC3) p.Arg502Trp mutation.

Stem Cell Res 2018 12 6;33:56-59. Epub 2018 Oct 6.

Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, Australia; Sydney Medical School, University of Sydney, Sydney, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S18735061183025
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http://dx.doi.org/10.1016/j.scr.2018.10.009DOI Listing
December 2018

Response to Brodehl et al.

Genet Med 2019 05 28;21(5):1248-1249. Epub 2018 Sep 28.

Molecular Cardiology and Biophysics Division, Victor Chang Cardiac Research Institute, Sydney, NSW, Australia.

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http://www.nature.com/articles/s41436-018-0292-1
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http://dx.doi.org/10.1038/s41436-018-0292-1DOI Listing
May 2019

Mitral valve prolapse and sudden cardiac death: a systematic review and meta-analysis.

Heart 2019 01 21;105(2):144-151. Epub 2018 Sep 21.

Centre for Heart Rhythm Disorders, South Australian Health and Medical Research Institute, University of Adelaide and Royal Adelaide Hospital, Adelaide, South Australia, Australia.

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http://heart.bmj.com/lookup/doi/10.1136/heartjnl-2017-312932
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http://dx.doi.org/10.1136/heartjnl-2017-312932DOI Listing
January 2019

A balanced translocation disrupting SCN5A in a family with Brugada syndrome and sudden cardiac death.

Heart Rhythm 2019 02 28;16(2):231-238. Epub 2018 Aug 28.

Agnes Ginges Centre for Molecular Cardiology Centenary Institute, The University of Sydney, Sydney, NSW, Australia; Sydney Medical School, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.hrthm.2018.08.027DOI Listing
February 2019

Clinical and Genetic Complexities of Left Ventricular Noncompaction: Preventing Overdiagnosis in a Disease We Do Not Understand.

JAMA Cardiol 2018 11;3(11):1033-1034

Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, Australia.

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http://cardiology.jamanetwork.com/article.aspx?doi=10.1001/j
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http://dx.doi.org/10.1001/jamacardio.2018.2465DOI Listing
November 2018

A Control Theory-Based Pilot Intervention toIncrease Physical Activity in Patients WithHypertrophic Cardiomyopathy.

Am J Cardiol 2018 09 8;122(5):866-871. Epub 2018 Jun 8.

Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Newtown, Australia; Sydney Medical School, University of Sydney, Sydney, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.amjcard.2018.05.023DOI Listing
September 2018

Implantable cardioverter-defibrillator therapy in Australia, 2002-2015.

Med J Aust 2018 08 30;209(3):123-129. Epub 2018 Jul 30.

Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, NSW.

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August 2018

Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy.

J Am Coll Cardiol 2018 07;72(4):419-429

Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, New South Wales, Australia; Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.jacc.2018.04.078DOI Listing
July 2018

Rare desmin variant causing penetrant life-threatening arrhythmic cardiomyopathy.

HeartRhythm Case Rep 2018 Jul 28;4(7):318-323. Epub 2018 Apr 28.

Department of Cardiology, Royal Prince Alfred Hospital, Camperdown, Australia.

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http://dx.doi.org/10.1016/j.hrcr.2018.04.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6050459PMC
July 2018

Holt-Oram syndrome in two families diagnosed with left ventricular noncompaction and conduction disease.

HeartRhythm Case Rep 2018 Apr 13;4(4):146-151. Epub 2018 Feb 13.

Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Newtown, Australia.

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http://dx.doi.org/10.1016/j.hrcr.2017.12.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5944048PMC
April 2018

Sudden Cardiac Death in Athletes.

Heart Lung Circ 2018 Sep 5;27(9):1072-1077. Epub 2018 Apr 5.

Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, NSW, Australia; Sydney Medical School, University of Sydney, Sydney, NSW, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, NSW, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.hlc.2018.03.026DOI Listing
September 2018

Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy: Progress and Pitfalls.

Heart Lung Circ 2018 Nov 4;27(11):1310-1317. Epub 2018 Apr 4.

Department of Cardiology, Royal Prince Alfred Hospital, Sydney, NSW, Australia; Sydney Medical School, University of Sydney, Sydney, NSW, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.hlc.2018.03.023DOI Listing
November 2018

Editorial commentary: Will the real long QT genes please stand up.

Trends Cardiovasc Med 2018 10 17;28(7):465-466. Epub 2018 Apr 17.

Sydney Medical School, University of Sydney, Australia; Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Australia; Royal Prince Alfred Hospital, Australia. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10501738183005
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http://dx.doi.org/10.1016/j.tcm.2018.04.002DOI Listing
October 2018

A 10-year review of sudden death during sporting activities.

Heart Rhythm 2018 10 18;15(10):1477-1483. Epub 2018 Apr 18.

Sydney Medical School, University of Sydney, Sydney, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.hrthm.2018.04.019DOI Listing
October 2018

Family Matters: Outcomes of Hypertrophic Cardiomyopathy Family Screening.

Circ Genom Precis Med 2018 04;11(4):e002112

Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney Medical School, University of Sydney, Department of Cardiology, Royal Prince Alfred Hospital, Australia.

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http://dx.doi.org/10.1161/CIRCGEN.118.002112DOI Listing
April 2018

Clinical Course and Quality of Life in High-Risk Patients With Hypertrophic Cardiomyopathy and Implantable Cardioverter-Defibrillators.

Circ Arrhythm Electrophysiol 2018 04;11(4):e005820

HCM Institute, Division of Cardiology, Tufts Medical Center, Boston, MA (B.J.M., E.J.R., M.S.M.); Department of Psychology & Cardiovascular Sciences, East Carolina University, Greenville, NC (S.F.S.); Royal Prince Alfred Hospital and Centenary Institute, University of Sydney, Australia (C.S.); Minneapolis Heart Institute Foundation, MN (S.A.C., A.A., R.G.); University of Iowa Hospitals, Iowa City (M.G.); Division of Cardiology, Department of Clinical & Molecular Medicine, Sant' Andrea Hospital, University of Sapienza, Rome (C.A., P.F.); Cardiology Division, Department of Diagnostics, Clinical and Public Health Medicine, University of Modena, and Reggio Emilia, Policlinico di Modena, Italy (G.B.); Policlinico di Monza, Italy (P.S.); St. Lukes - Roosevelt Hospital Center, NYU Lan gone Medical Center (M.V.S., A.K.); Cardiomyopathy Unit, Careggi University Hospital, Florence, Italy (I.O.); Atlantic Health Systems, Morristown Memorial Hospital and Medical Center, NJ (S.L.W.).

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http://dx.doi.org/10.1161/CIRCEP.117.005820DOI Listing
April 2018

Genetic Testing for Cardiomyopathies in Clinical Practice.

Heart Fail Clin 2018 Apr;14(2):129-137

Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, New South Wales, Australia; Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1016/j.hfc.2017.12.001DOI Listing
April 2018

Psychosocial Impact of a Positive Gene Result for Asymptomatic Relatives at Risk of Hypertrophic Cardiomyopathy.

J Genet Couns 2018 09 22;27(5):1040-1048. Epub 2018 Feb 22.

Sydney School of Public Health, University of Sydney, Rm 126A, Edward Ford Building A27, Sydney, NSW, 2006, Australia.

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http://dx.doi.org/10.1007/s10897-018-0218-8DOI Listing
September 2018

Daily Step Count as a Simple Marker of Disease Severity in Hypertrophic Cardiomyopathy.

Heart Lung Circ 2018 Jun 31;27(6):752-755. Epub 2018 Jan 31.

Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, NSW, Australia; Sydney Medical School, University of Sydney, Sydney, NSW, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, NSW, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.hlc.2017.12.012DOI Listing
June 2018

The Christmas gift of genetic uncertainty.

BMJ 2017 12 22;359:j5762. Epub 2017 Dec 22.

Centre for Research in Evidence Based Practice, Bond University, Queensland, Australia.

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http://dx.doi.org/10.1136/bmj.j5762DOI Listing
December 2017

Routinely collected health data to study inherited heart disease: a systematic review (2000-2016).

Open Heart 2017 11;4(2):e000686. Epub 2017 Oct 11.

Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1136/openhrt-2017-000686DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5652561PMC
October 2017

Development of a communication aid for explaining hypertrophic cardiomyopathy genetic test results.

Pilot Feasibility Stud 2017 9;3:53. Epub 2017 Nov 9.

Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, Australia.

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http://dx.doi.org/10.1186/s40814-017-0205-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5680798PMC
November 2017

Update on the Diagnosis and Management of Hypertrophic Cardiomyopathy.

Heart Lung Circ 2018 Mar 24;27(3):276-279. Epub 2017 Oct 24.

Agnes Ginges Centre for Molecular Cardiology, Centenary Institute and University of Sydney, Sydney, NSW, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, NSW, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.hlc.2017.10.007DOI Listing
March 2018

A clinical approach to genetic testing for non-specialists.

BMJ 2017 09 28;358:j4101. Epub 2017 Sep 28.

Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, Australia.

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http://dx.doi.org/10.1136/bmj.j4101DOI Listing
September 2017

Psychosocial Implications of Living with Catecholaminergic Polymorphic Ventricular Tachycardia in Adulthood.

J Genet Couns 2018 06 23;27(3):549-557. Epub 2017 Sep 23.

Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Locked Bag 6, Newtown, NSW, 2042, Australia.

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http://dx.doi.org/10.1007/s10897-017-0152-1DOI Listing
June 2018

Induced pluripotent stem cell technology and inherited arrhythmia syndromes.

Heart Rhythm 2018 01 18;15(1):137-144. Epub 2017 Aug 18.

Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Newtown, Australia; Sydney Medical School, University of Sydney, Sydney, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.hrthm.2017.08.013DOI Listing
January 2018