People_

Associate Professor Jodie Ingles

Conjoint Senior Lecturer
School of Medical Sciences
Faculty of Medicine and Health

Phone

02 9565 6293

jodie.ingles@sydney.edu.au

Themes

Obesity, Diabetes and Cardiovascular Disease

Keywords

Cardiovascular diseases, Genetic diseases, Public health

Publications

By Type

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Book Chapters

Semsarian, C., Ingles, J. (2019). Genetics of HCM and Role of Genetic Testing. In Srihari S. Naidu (Eds.), Hypertrophic cardiomyopathy, (pp. 83-91). Cham: Springer. [More Information]
Semsarian, C., Ingles, J. (2015). Genetics of HCM and Role of Genetic Testing. In Srihari S. Naidu (Eds.), Hypertrophic Cardiomyopathy, (pp. 77-84). London: Springer-Verlag. [More Information]
Semsarian, C., Ingles, J. (2014). Genetic Testing. In Douglas Zipes, Jose Jalife (Eds.), Cardiac Electrophysiology: From Cell to Bedside. Sixth Edition, (pp. 685-690). Philadelphia: Elsevier. [More Information]

Journals

Hespe, S., Gray, B., Puranik, R., Peters, S., Sweeting, J., Ingles, J. (2024). The role of genetic testing in management and prognosis of individuals with inherited cardiomyopathies. Trends In Cardiovascular Medicine. [More Information]
Burns, C., Yeates, L., Sweeting, J., Semsarian, C., Ingles, J. (2023). Evaluating a communication aid for return of genetic results in families with hypertrophic cardiomyopathy: A randomized controlled trial. Journal of Genetic Counseling, 32(2), 425-434. [More Information]
Van den Heuvel, L., Do, J., Yeates, L., Burns, C., Semsarian, C., Ingles, J. (2023). Sudden cardiac death in the young: A qualitative study of experiences of family members with cardiogenetic evaluation. Journal of Genetic Counseling. [More Information]
Van den Heuvel, L., Sarina, T., Sweeting, J., Yeates, L., Bates, K., Spinks, C., O'Donnell, C., Sears, S., McGeechan, K., Semsarian, C., Ingles, J. (2022). A prospective longitudinal study of health-related quality of life and psychological wellbeing after an implantable cardioverter-defibrillator in patients with genetic heart diseases. Heart Rhythm O2, 3(2), 143-151. [More Information]
Isbister, J., Nowak, N., Yeates, L., Singer, E., Sy, R., Ingles, J., Raju, H., Bagnall, R., Semsarian, C. (2022). Concealed Cardiomyopathy in Autopsy-Inconclusive Cases of Sudden Cardiac Death and Implications for Families. Journal of the American College of Cardiology, 80(22), 2057-2068. [More Information]
Yeates, L., McDonald, K., Burns, C., Semsarian, C., Carter, S., Ingles, J. (2022). Decision-making and experiences of preimplantation genetic diagnosis in inherited heart diseases: a qualitative study. European Journal of Human Genetics, 30(2), 187-193. [More Information]
Norrish, G., Qu, C., Field, E., Cervi, E., Khraiche, D., Klaassen, S., Ojala, T., Sinagra, G., Yamazawa, H., Marrone, C., Ingles, J., Semsarian, C., et al (2022). External validation of the HCM Risk-Kids model for predicting sudden cardiac death in childhood hypertrophic cardiomyopathy. European Journal of Preventive Cardiology, 29(4), 678-686. [More Information]
Bagnall, R., Singer, E., Wacker, J., Nowak, N., Ingles, J., King, I., Macciocca, I., Crowe, J., Ronan, A., Weintraub, R., Semsarian, C. (2022). Genetic Basis of Childhood Cardiomyopathy. Circulation. Genomic and Precision Medicine, 15(6), E003686. [More Information]
Castelletti, S., Gray, B., Basso, C., Behr, E., Crotti, L., Elliott, P., Gonzalez Corcia, C., D'Ascenzi, F., Ingles, J., Loeys, B., et al (2022). Indications and utility of cardiac genetic testing in athletes. European Journal of Preventive Cardiology, 29(12), 1582-1591. [More Information]
Franciosi, S., Abrams, D., Ingles, J., Sanatani, S. (2022). Sudden Cardiac Arrest in the Paediatric Population. CJC Pediatric and Congenital Heart Disease, 1(2), 45-59. [More Information]
Stafford, F., Krishnan, N., Richardson, E., Butters, A., Hespe, S., Burns, C., Gray, B., Medi, C., Nowak, N., Isbister, J., Richmond, D., Singer, E., Sy, R., Yeates, L., Bagnall, R., Semsarian, C., Ingles, J., et al (2022). The role of genetic testing in diagnosis and care of inherited cardiac conditions in a specialised multidisciplinary clinic. Genome Medicine, 14(1). [More Information]
Yeates, L., Gardner, K., Do, J., Van Den Heuvel, L., Fleming, G., Semsarian, C., McEwen, A., Adlard, L., Ingles, J. (2022). Using codesign focus groups to develop an online COmmunity suPporting familiEs after Sudden Cardiac Death (COPE-SCD) in the young. BMJ Open, 12(8). [More Information]
Isbister, J., Nowak, N., Butters, A., Yeates, L., Gray, B., Sy, R., Ingles, J., Bagnall, R., Semsarian, C. (2021). "Concealed cardiomyopathy" as a cause of previously unexplained sudden cardiac arrest. International Journal of Cardiology, 324, 96-101. [More Information]
Stiles, M., Wilde, A., Abrams, D., Ackerman, M., Albert, C., Behr, E., Chugh, S., Cornel, M., Gardner, K., Ingles, J., Semsarian, C., et al (2021). 2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families. Heart Rhythm, 18(1), e1-e50. [More Information]
Stiles, M., Wilde, A., Abrams, D., Ackerman, M., Albert, C., Behr, E., Chugh, S., Cornel, M., Gardner, K., Ingles, J., Semsarian, C., et al (2021). 2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families. Journal of Arrhythmia, 37(3), 481-534. [More Information]
Jordan, E., Peterson, L., Ai, T., Asatryan, B., Bronicki, L., Brown, E., Celeghin, R., Edwards, M., Fan, J., Ingles, J., Semsarian, C., et al (2021). An Evidence-Based Assessment of Genes in Dilated Cardiomyopathy. Circulation, 144(1), 7-19. [More Information]
Kim, S., Bennett, R., Ingles, J., Kumar, S., Zaman, S. (2021). Arrhythmia in Cardiomyopathy: Sex and Gender Differences. Current Heart Failure Reports, 18(5), 274-283. [More Information]
Lakdawala, N., Olivotto, I., Day, S., Han, L., Ashley, E., Michels, M., Ingles, J., Semsarian, C., Jacoby, D., Jefferies, J., et al (2021). Associations Between Female Sex, Sarcomere Variants, and Clinical Outcomes in Hypertrophic Cardiomyopathy. Circulation. Genomic and Precision Medicine, 14(1), e003062. [More Information]
Singer, E., Ross, S., Skinner, J., Weintraub, R., Ingles, J., Semsarian, C., Bagnall, R. (2021). Characterization of clinically relevant copy-number variants from exomes of patients with inherited heart disease and unexplained sudden cardiac death. Genetics in Medicine, 23(1), 86-93. [More Information]
Marston, N., Han, L., Olivotto, I., Day, S., Ashley, E., Michels, M., Pereira, A., Ingles, J., Semsarian, C., Jacoby, D., et al (2021). Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy. European Heart Journal, 42(20), 1988-1996. [More Information]
Butters, A., Semsarian, C., Bagnall, R., Yeates, L., Stafford, F., Burns, C., Semsarian, C., Ingles, J. (2021). Clinical Profile and Health Disparities in a Multiethnic Cohort of Patients With Hypertrophic Cardiomyopathy. Circulation. Heart Failure, 14(3), e007537. [More Information]
Thompson, A., Helms, A., Kannan, A., Yob, J., Lakdawala, N., Wittekind, S., Pereira, A., Jacoby, D., Colan, S., Ashley, E., Ingles, J., Semsarian, C., et al (2021). Computational prediction of protein subdomain stability in MYBPC3 enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation. Genetics in Medicine, 23(7), 1281-1287. [More Information]
Repetti, G., Kim, Y., Pereira, A., Ingles, J., Russell, M., Lakdawala, N., Ho, C., Day, S., Semsarian, C., McDonough, B., et al (2021). Discordant clinical features of identical hypertrophic cardiomyopathy twins. Proceedings of the National Academy of Sciences of the United States of America, 118(10), e2021717118. [More Information]
Zhang, X., Walsh, R., Whiffin, N., Buchan, R., Midwinter, W., Wilk, A., Govind, R., Li, N., Ahmad, M., Mazzarotto, F., Semsarian, C., Ingles, J., et al (2021). Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions. Genetics in Medicine, 23(1), 69-79. [More Information]
Lacaze, P., Sebra, R., Riaz, M., Ingles, J., Tiller, J., Thompson, B., James, P., Fatkin, D., Semsarian, C., Reid, C., et al (2021). Genetic variants associated with inherited cardiovascular disorders among 13,131 asymptomatic older adults of European descent. npj Genomic Medicine, 6(1), 51. [More Information]
Van den Heuvel, L., Do, J., Yeates, L., MacLeod, H., James, C., Duflou, J., Skinner, J., Semsarian, C., van Tintelen, J., Ingles, J. (2021). Global approaches to cardiogenetic evaluation after sudden cardiac death in the young: A survey among health care professionals. Heart Rhythm, 18(10), 1637-1644. [More Information]
Morales, A., Ing, A., Antolik, C., Austin-Tse, C., Baudhuin, L., Bronicki, L., Cirino, A., Hawley, M., Fietz, M., Garcia, J., Ingles, J., et al (2021). Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM): A Study from the ClinGen Cardiomyopathy Variant Curation Expert Panel. The Journal of Molecular Diagnostics, 23(5), 589-598. [More Information]
Stafford, F., Thomson, K., Butters, A., Ingles, J. (2021). Hypertrophic Cardiomyopathy: Genetic Testing and Risk Stratification. Current Cardiology Reports, 23(2), 9. [More Information]
Austin, R., Quinn, M., Afoakwah, C., Metke-Jimenez, A., Leroux, H., Atherton, J., Brown, J., Wornham, L., Macciocca, I., De Silva, M., Wu, K., Ingles, J., Semsarian, C., et al (2021). Investigation of current models of care for genetic heart disease in Australia: A national clinical audit. International Journal of Cardiology, 330, 128-134. [More Information]
Semsarian, C., Ingles, J., Ross, S., Dunwoodie, S., Bagnall, R., Kovacic, J. (2021). Precision Medicine in Cardiovascular Disease: Genetics and Impact on Phenotypes: JACC Focus Seminar 1/5. Journal of the American College of Cardiology, 77(20), 2517-2530. [More Information]
Butters, A., Lakdawala, N., Ingles, J. (2021). Sex Differences in Hypertrophic Cardiomyopathy: Interaction With Genetics and Environment. Current Heart Failure Reports, 18(5), 264-273. [More Information]
Butters, A., Arnott, C., Winkel, B., Semsarian, C., Ingles, J. (2021). Sex Disparities in Sudden Cardiac Death. Circulation. Arrhythmia and Electrophysiology, 14(8), e009834-1-e009834-12. [More Information]
Baudhuin, L., De Backer, J., Ingles, J., Milewicz, D., Tybjaerg-Hansen, A. (2021). The Dynamic and Multifaceted Nature of Cardiovascular Disease and Using Genetic Testing to Inform Clinical Care: An International Perspective. Clinical Chemistry, 67(1), 33-40. [More Information]
Paratz, E., Rowsell, L., van Heusden, A., Zentner, D., Parsons, S., Morgan, N., Thompson, T., James, P., Pflaumer, A., Semsarian, C., Ingles, J., et al (2021). The End Unexplained Cardiac Death (EndUCD) Registry for Young Australian Sudden Cardiac Arrest. Heart, Lung, and Circulation, 30(5), 714-720. [More Information]
Dries, A., Kirillova, A., Reuter, C., Garcia, J., Zouk, H., Hawley, M., Murray, B., Tichnell, C., Pilichou, K., Protonotarios, A., Ingles, J., Semsarian, C., et al (2021). The genetic architecture of Plakophilin 2 cardiomyopathy. Genetics in Medicine, 23(10), 1961-1968. [More Information]
Holliday, M., Singer, E., Ross, S., Lim, S., Lal, S., Ingles, J., Semsarian, C., Bagnall, R. (2021). Transcriptome Sequencing of Patients with Hypertrophic Cardiomyopathy Reveals Novel Splice-altering Variants in MYBPC3. Circulation. Genomic and Precision Medicine, 14(2), e003202. [More Information]
Nauffal, V., Marstrand, P., Han, L., Parikh, V., Helms, A., Ingles, J., Jacoby, D., Lakdawala, N., Kapur, S., Michels, M., Semsarian, C., et al (2021). Worldwide differences in primary prevention implantable cardioverter defibrillator utilization and outcomes in hypertrophic cardiomyopathy. European Heart Journal, 42(38), 3932-3944. [More Information]
Miron, A., Lafreniere-Roula, M., Steve Fan, C., Armstrong, K., Dragulescu, A., Papaz, T., Manlhiot, C., Kaufman, B., Butts, R., Gardin, L., Ingles, J., Semsarian, C., et al (2020). A validated model for sudden cardiac death risk prediction in pediatric hypertrophic cardiomyopathy. Circulation, 142(3), 217-229. [More Information]
Ng, K., Titus, E., Lieve, K., Roston, T., Mazzanti, A., Deiter, F., Denjoy, I., Ingles, J., Till, J., Robyns, T., Semsarian, C., et al (2020). An International Multicenter Evaluation of Inheritance Patterns, Arrhythmic Risks, and Underlying Mechanisms of CASQ2-Catecholaminergic Polymorphic Ventricular Tachycardia. Circulation, 142(10), 932-947. [More Information]
Eberly, L., Day, S., Ashley, E., Jacoby, D., Jefferies, J., Colan, S., Rossano, J., Semsarian, C., Pereira, A., Olivotto, I., Ingles, J., et al (2020). Association of Race with Disease Expression and Clinical Outcomes among Patients with Hypertrophic Cardiomyopathy. JAMA Cardiology, 5(1), 83-91. [More Information]
Fioretti, C., Magni1, E., Barlocco, F., Tomberli, A., Baldini, K., Ingles, J., Smorti, A., Olivotto, I. (2020). Doctor-patient care relationship in genetic cardiomyopathies: An exploratory study on clinical consultations. PloS One, 15(8), 1-13. [More Information]
Butters, A., Isbister, J., Medi, C., Raju, H., Turner, C., Sy, R., Semsarian, C., Ingles, J. (2020). Epidemiology and clinical characteristics of atrial fibrillation in patients with inherited heart diseases. Journal of Cardiovascular Electrophysiology, 31(2), 465-473. [More Information]
Ross, S., Singer, E., Driscoll, E., Nowak, N., Yeates, L., Puranik, R., Sy, R., Rajagopalan, S., Barratt, A., Ingles, J., Bagnall, R., Semsarian, C. (2020). Genetic architecture of left ventricular noncompaction in adults. Human Genome Variation, 7(1), 33. [More Information]
Ingles, J., Macciocca, I., Morales, A., Thomson, K. (2020). Genetic Testing in Inherited Heart Diseases. Heart, Lung, and Circulation, 29(4), 505-511. [More Information]
O'Donovan, C., Ingles, J., Broadbent, E., Skinner, J., Kasparian, N. (2020). How Patient Perceptions Shape Responses and Outcomes in Inherited Cardiac Conditions. Heart, Lung, and Circulation, 29(4), 641-652. [More Information]
Marstrand, P., Han, L., Day, S., Olivotto, I., Ashley, E., Michels, M., Pereira, A., Wittekind, S., Helms, A., Saberi, S., Semsarian, C., Ingles, J., et al (2020). Hypertrophic Cardiomyopathy with Left Ventricular Systolic Dysfunction: Insights from the SHaRe Registry. Circulation, 141(17), 1371-1383. [More Information]
Ingles, J., Semsarian, C. (2020). Making The Case For Cascade Screening Amongst Families With Inherited Heart Diseases. Heart Rhythm, 17(1), 113-114. [More Information]
McDonald, K., Sharpe, L., Yeates, L., Semsarian, C., Ingles, J. (2020). Needs analysis of parents following sudden cardiac death in the young. Open Heart, 7(2), 1-5. [More Information]
Moonen, A., Lal, S., Ingles, J., Yeates, L., Semsarian, C., Puranik, R. (2020). Prevalence of Anderson-Fabry disease in a cohort with unexplained late gadolinium enhancement on cardiac MRI. International Journal of Cardiology, 304, 122-124. [More Information]
Ingles, J. (2020). Psychological issues in managing families with inherited cardiovascular diseases. Cold Spring Harbor Perspectives in Medicine, 10(9), a036558. [More Information]
Butters, A., Bagnall, R., Ingles, J. (2020). Revisiting the Diagnostic Yield of Hypertrophic Cardiomyopathy Genetic Testing. Circulation. Genomic and Precision Medicine, 13(2), e002930. [More Information]
Helms, A., Thompson, A., Glazier, A., Hafeez, N., Kabani, S., Rodriguez, J., Yob, J., Woolcock, H., Mazzarotto, F., Lakdawala, N., Ingles, J., Semsarian, C., et al (2020). Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients with Hypertrophic Cardiomyopathy. Circulation. Genomic and Precision Medicine, 13(5), 396-405. [More Information]
Ingles, J., Semsarian, C. (2020). Time to Rethink the Genetic Architecture of Long QT Syndrome. Circulation, 141(6), 440-443. [More Information]
Yeates, L., McEwen, A., Ingles, J. (2020). What do we do and how do we do it? Assessing genetic counselling in the modern era. European Journal of Human Genetics, 28(9), 1137-1138. [More Information]
Ingles, J., Ware, J. (2020). What Is the Risk of Sudden Cardiac Arrest in Inherited Cardiac Conditions? Journal of the American College of Cardiology, 75(21), 2708-2710. [More Information]
Towbin, J., McKenna, W., Abrams, D., Ackerman, M., Calkins, H., Darrieux, F., Daubert, J., de Chillou, C., DePasquale, E., Desai, M., Ingles, J., et al (2019). 2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy. Heart Rhythm, 16(11), e301-e372. [More Information]
Towbin, J., McKenna, W., Abrams, D., Ackerman, M., Calkins, H., Darrieux, F., Daubert, J., de Chillou, C., DePasquale, E., Desai, M., Ingles, J., et al (2019). 2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy: Executive summary. Heart Rhythm, 16(11), e373-e407. [More Information]
Yeates, L., Ingles, J., Gray, B., Singarayar, S., Sy, R., Semsarian, C., Bagnall, R. (2019). A balanced translocation disrupting SCN5A in a family with Brugada syndrome and sudden cardiac death. Heart Rhythm, 16(2), 231-238. [More Information]
Ingles, J., Semsarian, C. (2019). An Unexpected FLNC Phenotype: Expanding the Clinical Spectrum or a Second-Hit Disease Mechanism? Mayo Clinic Proceedings, 94(5), 751-753. [More Information]
Ingles, J., Bagnall, R., Semsarian, C., Das K, J. (2019). Correction: Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment. Genetics in Medicine, 21(5), 1264. [More Information]
Burns, C., Yeates, L., Semsarian, C., Ingles, J. (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, 9(1), e026627. [More Information]
Ingles, J., Goldstein, J., Thaxton, C., Caleshu, C., Corty, E., Crowley, S., Dougherty, K., Harrison, S., McGlaughon, J., Milko, L., Semsarian, C., et al (2019). Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes. Circulation. Genomic and Precision Medicine, 12(2), 57-64. [More Information]
Minoche, A., Horvat, C., Johnson, R., Gayevskiy, V., Morton, S., Drew, A., Woo, K., Statham, A., Lundie, B., Bagnall, R., Ingles, J., Semsarian, C., et al (2019). Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy. Genetics in Medicine, 21(3), 650-662. [More Information]
van der Werf, C., Lieve, K., Bos, J., Lane, C., Denjoy, I., Roses-Noguer, F., Aiba, T., Wada, Y., Ingles, J., Leren, I., Semsarian, C., et al (2019). Implantable cardioverter-defibrillators in previously undiagnosed patients with catecholaminergic polymorphic ventricular tachycardia resuscitated from sudden cardiac arrest. European Heart Journal, 40(35), 2953-2961. [More Information]
Singer, E., Ingles, J., Semsarian, C., Bagnall, R. (2019). Key Value of RNA Analysis of MYBPC3 Splice-Site Variants in Hypertrophic Cardiomyopathy. Circulation. Genomic and Precision Medicine, 12(1), 32-39. [More Information]
Papoutsidakis, N., Heitner, S., Ingles, J., Semsarian, C., Mannello, M., Salberg, L., Waldman, C., Vaccaro, B., Maurizi, N., Olivotto, I., et al (2019). Participation in thrill-seeking activities by patients with hypertrophic cardiomyopathy: Individual preferences, adverse events and physician attitude. American Heart Journal, 214, 28-35. [More Information]
Wong, E., Bartels, K., Hathaway, J., Burns, C., Yeates, L., Semsarian, C., Krahn, A., Virani, A., Ingles, J. (2019). Perceptions of genetic variant reclassification in patients with inherited cardiac disease. European Journal of Human Genetics, 27(7), 1134-1142. [More Information]
Bates, K., Sweeting, J., Yeates, L., McDonald, K., Semsarian, C., Ingles, J. (2019). Psychological adaptation to molecular autopsy findings following sudden cardiac death in the young. Genetics in Medicine, 21(6), 1452-1456. [More Information]
Parikh, V., Caleshu, C., Reuter, C., Lazzeroni, L., Ingles, J., Garcia, J., McCaleb, K., Adesiyun, T., Sedaghat-Hamedani, F., Kumar, S., Semsarian, C., et al (2019). Regional Variation in RBM20 Causes a Highly Penetrant Arrhythmogenic Cardiomyopathy. Circulation. Heart Failure, 12(3), 1-9. [More Information]
Ingles, J., Semsarian, C. (2019). Response by Ingles and Semsarian to Letter Regarding Article, "Concealed Arrhythmogenic Right Ventricular Cardiomyopathy in Sudden Unexplained Cardiac Death Events". Circulation. Genomic and Precision Medicine, 12(3), 141-142. [More Information]
Minoche, A., Horvat, C., Johnson, R., Gayevskiy, V., Morton, S., Drew, A., Woo, K., Statham, A., Lundie, B., Bagnall, R., Ingles, J., Semsarian, C., et al (2019). Response to Brodehl et al. Genetics in Medicine, 21(5), 1248-1249. [More Information]
Sweeting, J., Ingles, J., Ball, K., Semsarian, C. (2018). A Control Theory-Based Pilot Intervention to Increase Physical Activity in Patients With Hypertrophic Cardiomyopathy. American Journal of Cardiology, 122(5), 866-871. [More Information]
Kelly, M., Caleshu, C., Morales, A., Buchan, J., Wolf, Z., Harrison, S., Cook, S., Dillon, M., Garcia, J., Haverfield, E., Ingles, J., Semsarian, C., et al (2018). Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel. Genetics in Medicine, 20(3), 351-359. [More Information]
Burns, C., James, C., Ingles, J. (2018). Communication of genetic information to families with inherited rhythm disorders. Heart Rhythm, 15(5), 780-786. [More Information]
Ingles, J., Bagnall, R., Yeates, L., McGrady, M., Berman, Y., Whalley, D., Duflou, J., Semsarian, C. (2018). Concealed Arrhythmogenic Right Ventricular Cardiomyopathy in Sudden Unexplained Cardiac Death Events. Circulation. Genomic and Precision Medicine, 11(11), 1-3. [More Information]
Sweeting, J., Ingles, J., Ball, K., Semsarian, C. (2018). Daily Step Count as a Simple Marker of Disease Severity in Hypertrophic Cardiomyopathy. Heart, Lung, and Circulation, 27(6), 752-755. [More Information]
Ingles, J., Semsarian, C. (2018). Family Matters: Outcomes of Hypertrophic Cardiomyopathy Family Screening. Circulation. Genomic and Precision Medicine, 11(4), e002112. [More Information]
Ingles, J., Bagnall, R., Semsarian, C. (2018). Genetic Testing for Cardiomyopathies in Clinical Practice. Heart Failure Clinics, 14(2), 129-137. [More Information]
Blanch, B., Lago, L., Sy, R., Harris, P., Semsarian, C., Ingles, J. (2018). Implantable cardioverter-defibrillator therapy in Australia, 2002-2015. Medical Journal of Australia, 209(3), 123-129. [More Information]
Gray, B., Hasdemir, C., Ingles, J., Aiba, T., Makita, N., Probst, V., Wilde, A., Newbury-Ecob, R., Sheppard, M., Semsarian, C., Sy, R., et al (2018). Lack of genotype-phenotype correlation in Brugada Syndrome and Sudden Arrhythmic Death Syndrome families with reported pathogenic SCN1B variants. Heart Rhythm, 15(7), 1051-1057. [More Information]
Bonner, C., Spinks, C., Semsarian, C., Barratt, A., Ingles, J., McCaffery, K. (2018). Psychosocial Impact of a Positive Gene Result for Asymptomatic Relatives at Risk of Hypertrophic Cardiomyopathy. Journal of Genetic Counseling, 27(5), 1040-1048. [More Information]
Richardson, E., Spinks, C., Davis, A., Turner, C., Atherton, J., McGaughran, J., Semsarian, C., Ingles, J. (2018). Psychosocial Implications of Living with Catecholaminergic Polymorphic Ventricular Tachycardia in Adulthood. Journal of Genetic Counseling, 27(3), 549-557. [More Information]
Oomen, A., Jones, K., Yeates, L., Semsarian, C., Ingles, J., Sy, R. (2018). Rare desmin variant causing penetrant life-threatening arrhythmic cardiomyopathy. Heart Rhythm Case Reports, 4(7), 318-323. [More Information]
Gray, B., Gnanappa, G., Bagnall, R., Femia, G., Yeates, L., Ingles, J., Burns, C., Puranik, R., Grieve, S., Semsarian, C., Sy, R. (2018). Relations between right ventricular morphology and clinical, electrical and genetic parameters in Brugada Syndrome. PloS One, 13(4), 1-14. [More Information]
Bagnall, R., Ingles, J., Dinger, M., Cowley, M., Ross, S., Minoche, A., Lal, S., Turner, C., Colley, A., Rajagopalan, S., Semsarian, C., et al (2018). Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy. Journal of the American College of Cardiology, 72(4), 419-429. [More Information]
Semsarian, C., Ingles, J. (2017). A clinical approach to genetic testing for non-specialists. BMJ, 358, 1-5. [More Information]
Burns, C., Yeates, L., Spinks, C., Semsarian, C., Ingles, J. (2017). Attitudes, knowledge and consequences of uncertain genetic findings in hypertrophic cardiomyopathy. European Journal of Human Genetics, 25(7), 809-815. [More Information]
Ross, S., Bagnall, R., Ingles, J., Van Tintelen, P., Semsarian, C. (2017). Burden of Recurrent and Ancestral Mutations in Families with Hypertrophic Cardiomyopathy. Circulation: Cardiovascular Genetics, 10(3), 1-7. [More Information]
Gray, B., Ingles, J., Medi, C., Driscoll, T., Semsarian, C. (2017). Cardiovascular Effects of Energy Drinks in Familial Long QT Syndrome: A Randomized Cross-Over Study. International Journal of Cardiology, 231, 150-154. [More Information]
Smagarinsky, Y., Burns, C., Spinks, C., Semsarian, C., Ingles, J. (2017). Development of a communication aid for explaining hypertrophic cardiomyopathy genetic test results. Pilot and Feasibility Studies, 3(1), 1-9. [More Information]
Ingles, J., Bos, J. (2017). Editorial commentary: Genetic contributions to cardiovascular disease: The blurred lines between monogenic and polygenic traits. Trends In Cardiovascular Medicine, 27(6), 405-407. [More Information]
Bagnall, R., Ingles, J., Yeates, L., Berkovic, S., Semsarian, C. (2017). Exome sequencing-based molecular autopsy of formalin-fixed paraffin-embedded tissue after sudden death. Genetics in Medicine, 19(10), 1127-1133. [More Information]
Sweeting, J., Ball, K., McGaughran, J., Atherton, J., Semsarian, C., Ingles, J. (2017). Impact of the implantable cardioverter defibrillator on confidence to undertake physical activity in inherited heart disease: A cross-sectional study. European Journal of Cardiovascular Nursing, 16(8), 742-752. [More Information]
Martin, S., Ingles, J., Hunyor, I., Bagnall, R., Puranik, R., Semsarian, C. (2017). LAMP2 shines a light on cardiomyopathy in an athlete. Heart Rhythm Case Reports, 3(3), 172-176. [More Information]
Rhodes, A., Rosman, L., Cahill, J., Ingles, J., Murray, B., Tichnell, C., James, C., Sears, S. (2017). Minding the Genes: a Multidisciplinary Approach towards Genetic Assessment of Cardiovascular Disease. Journal of Genetic Counseling, 26(2), 224-231. [More Information]
Burns, C., Bagnall, R., Lam, L., Semsarian, C., Ingles, J. (2017). Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing. Circulation Cardiovascular Genetics, 10(4), 1-8. [More Information]
Ingles, J., Burns, C., Bagnall, R., Lam, L., Yeates, L., Sarina, T., Puranik, R., Briffa, T., Atherton, J., Driscoll, T., Semsarian, C. (2017). Nonfamilial Hypertrophic Cardiomyopathy: Prevalence, Natural History, and Clinical Implications. Circulation Cardiovascular Genetics, 10(2), 1-11. [More Information]
Ingles, J., Burns, C., Funke, B. (2017). Pathogenicity of Hypertrophic Cardiomyopathy Variants: A Path Forward Together. Brain Circulation, 10(5). [More Information]
Ingles, J., James, C. (2017). Psychosocial care and cardiac genetic counseling following sudden cardiac death in the young. Progress in Pediatric Cardiology, 45, 31-36. [More Information]
Cirino, A., Harris, S., Lakdawala, N., Michels, M., Olivotto, I., Day, S., Abrams, D., Charron, P., Caleshu, C., Semsarian, C., Ingles, J., et al (2017). Role of genetic testing in inherited cardiovascular disease: A review. JAMA Cardiology, 2(10), 1153-1160. [More Information]
Blanch, B., Sweeting, J., Semsarian, C., Ingles, J. (2017). Routinely collected health data to study inherited heart disease: a systematic review (2000 -2016). Open Heart, 4, 1-8. [More Information]
Feng, J., Nedkoff, L., Knuiman, M., Semsarian, C., Ingles, J., Briffa, T., Hickling, S. (2017). Temporal Trends in Sudden Cardiac Death From 1997 to 2010: A Data Linkage Study. Heart, Lung, and Circulation, 26(8), 808-816. [More Information]
Gray, B., Bagnall, R., Lam, L., Ingles, J., Turner, C., Haan, E., Davis, A., Yang, P., Clancy, C., Sy, R., Semsarian, C. (2016). A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia. Heart Rhythm, 13(8), 1652-1660. [More Information]
Bagnall, R., Weintraub, R., Ingles, J., Duflou, J., Yeates, L., Lam, L., Davis, A., Thompson, T., Connell, V., Wallace, J., Puranik, R., Semsarian, C., et al (2016). A Prospective Study of Sudden Cardiac Death among Children and Young Adults. New England Journal of Medicine, 374(25), 2441-2452. [More Information]
Burns, C., Ingles, J., Davis, A., Connell, V., Gray, B., Hunt, L., McGaughran, J., Semsarian, C. (2016). Clinical and genetic features of Australian families with long QT syndrome: A registry-based study. Journal of Arrhythmia, 32(6), 456-461. [More Information]
Burns, C., McGaughran, J., Davis, A., Semsarian, C., Ingles, J. (2016). Factors influencing uptake of familial long QT syndrome genetic testing. American Journal of Medical Genetics, Part A, 170(2), 418-425. [More Information]
Caleshu, C., Kasparian, N., Edwards, K., Yeates, L., Semsarian, C., Perez, M., Ashley, E., Turner, C., Knowles, J., Ingles, J. (2016). Interdisciplinary psychosocial care for families with inherited cardiovascular diseases. Trends In Cardiovascular Medicine, 26(7), 647-653. [More Information]
Semsarian, C., Ingles, J. (2016). Molecular autopsy in victims of inherited arrhythmias. Journal of Arrhythmia, 32(5), 359-365. [More Information]
Sweeting, J., Ingles, J., Timperio, A., Patterson, J., Ball, K., Semsarian, C. (2016). Physical activity in hypertrophic cardiomyopathy: Prevalence of inactivity and perceived barriers. Open Heart, 3(2), 1-9. [More Information]
Ingles, J., Spinks, C., Yeates, L., McGeechan, K., Kasparian, N., Semsarian, C. (2016). Posttraumatic stress and prolonged grief after the sudden cardiac death of a young relative. JAMA Internal Medicine, 176(3), 402-405. [More Information]
Semsarian, C., Ingles, J. (2016). Preventing sudden cardiac death in athletes. BMJ, 353, 1-2. [More Information]
Sweeting, J., Ingles, J., Ball, K., Semsarian, C. (2016). Sudden deaths during the largest community running event in Australia: A 25-year review. International Journal of Cardiology, 203, 1029-1031. [More Information]
Ingles, J., Burns, C., Barratt, A., Semsarian, C. (2015). Application of Genetic Testing in Hypertrophic Cardiomyopathy for Preclinical Disease Detection. Circulation: Cardiovascular Genetics, 8(6), 852-859. [More Information]
Sweeting, J., Ingles, J., Ball, K., Semsarian, C. (2015). Challenges of Exercise Recommendations and Sports Participation in Genetic Heart Disease Patients. Circulation Cardiovascular Genetics, 8(1), 178-186. [More Information]
Semsarian, C., Ingles, J. (2015). Determining pathogenicity in cardiac genetic testing: Filling in the blank spaces. Trends In Cardiovascular Medicine, 25(7), 653-654. [More Information]
Lam, L., Ingles, J., Turner, C., Kilborn, M., Bagnall, R., Semsarian, C. (2015). Exome sequencing identifies a novel mutation in the MYH6 gene in a family with early-onset sinus node dysfunction, ventricular arrhythmias, and cardiac arrest. Heart Rhythm Case Reports, 1(3), 141-145. [More Information]
Semsarian, C., Ingles, J. (2015). Letter by Semsarian and Ingles regarding article, A randomized trial of social media from Circulation"". Circulation, 131(13), e394. [More Information]
Semsarian, C., Ingles, J., Maron, M., Maron, B. (2015). New Perspectives on the Prevalence of Hypertrophic Cardiomyopathy. Journal of the American College of Cardiology, 65(12), 1249-1254. [More Information]
Earle, N., Ingles, J., Bagnall, R., Gray, B., Crawford, J., Smith, W., Shelling, A., Love, D., Semsarian, C., Skinner, J. (2015). NOS1AP polymorphisms modify QTc interval duration but not cardiac arrest risk in hypertrophic cardiomyopathy. Journal of Cardiovascular Electrophysiology, 26(12), 1346-1351. [More Information]
Tully, I., Atherton, J., Hunt, L., Ingles, J., Semsarian, C., McGaughran, J. (2015). Rarity and phenotypic heterogeneity provide challenges in the diagnosis of Andersen-Tawil syndrome: Two cases presenting with ECGs mimicking catecholaminergic polymorphic ventricular tachycardia (CPVT). International Journal of Cardiology, 201, 473-475. [More Information]
Ingles, J., Johnson, R., Sarina, T., Yeates, L., Burns, C., Gray, B., Ball, K., Semsarian, C. (2015). Social determinants of health in the setting of hypertrophic cardiomyopathy. International Journal of Cardiology, 184(1), 743-749. [More Information]
Semsarian, C., Ingles, J., Wilde, A. (2015). Sudden cardiac death in the young: the molecular autopsy and a practical approach to surviving relatives. European Heart Journal, 36(21), 1290-1296. [More Information]
Feng, J., Hickling, S., Nedkoff, L., Knuiman, M., Semsarian, C., Ingles, J., Briffa, T. (2015). Sudden cardiac death rates in an Australian population: A data linkage study. Australian Health Review, 39(5), 561-567. [More Information]
Ingles, J., Burns, C. (2015). The social gradient of taking a family history. European Journal of Cardiovascular Nursing, 14(1), 6-7. [More Information]
Burns, C., Semsarian, C., Ingles, J. (2014). Access, uptake and communication of genetic test results in Australian families with long QT syndrome (LQTS). Heart, Lung, and Circulation, 23(S2), e7.
Driscoll, E., Ingles, J., Semsarian, C. (2014). Clinical and genetic characteristics of hypertrophic cardiomyopathy patients with end-stage disease: A registry-based study. Heart, Lung, and Circulation, 23(S2), e8-e9.
Ingles, J., Semsarian, C. (2014). Conveying a probabilistic genetic test result to families with an inherited heart disease. Heart Rhythm, 11(6), 1073-1078. [More Information]
Kozlovski, J., Ingles, J., Connell, V., Hunt, L., McGaughran, J., Turner, C., Davis, A., Sy, R., Semsarian, C. (2014). Delay to diagnosis amongst patients with catecholaminergic polymorphic ventricular tachycardia. International Journal of Cardiology, 176(3), 1402-1404. [More Information]
Das K, J., Ingles, J., Bagnall, R., Semsarian, C. (2014). Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment. Genetics in Medicine, 16(4), 286-293. [More Information]
Bagnall, R., Ingles, J., Semsarian, C. (2014). Illumina TruSight Cardiomyopathy Sequencing Panel: Application to hypertrophic cardiomyopathy. Heart, Lung, and Circulation, 23(S2), e5.
Semsarian, C., Sweeting, J., Ingles, J. (2014). Sudden death in athletes: Preventable or inevitable? Heart Rhythm, 11(10), 1682-1683. [More Information]
Ingles, J., Semsarian, C. (2014). The value of cardiac genetic testing. Trends In Cardiovascular Medicine, 24(6), 217-224. [More Information]
Ingles, J., Sarina, T., Yeates, L., Hunt, L., Macciocca, I., McCormack, L., Winship, I., McGaughran, J., Atherton, J., Semsarian, C. (2013). Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy. Genetics in Medicine, 15(12), 972-977. [More Information]
Semsarian, C., Ingles, J. (2013). Expanding the genetic spectrum of hypertrophic cardiomyopathy: x marks the spot. Circulation Cardiovascular Genetics, 6(6), 528-530. [More Information]
Ingles, J., Yeates, L., Hunt, L., McGaughran, J., Scuffham, P., Atherton, J., Semsarian, C. (2013). Health status of cardiac genetic disease patients and their at-risk relatives. International Journal of Cardiology, 165(3), 448-453. [More Information]
Gray, B., Yeates, L., Medi, C., Ingles, J., Semsarian, C. (2013). Homozygous mutation in the cardiac troponin I gene: Clinical heterogeneity in hypertrophic cardiomyopathy. International Journal of Cardiology, 168(2), 1530-1531. [More Information]
Yeates, L., Hunt, L., Saleh, M., Semsarian, C., Ingles, J. (2013). Poor psychological wellbeing particularly in mothers following sudden cardiac death in the young. European Journal of Cardiovascular Nursing, 12(5), 484-491. [More Information]
Gray, B., Ingles, J., Medi, C., Semsarian, C. (2013). Prolongation of the QTc Interval Predicts Appropriate Implantable Cardioverter-Defibrillator Therapies in Hypertrophic Cardiomyopathy. JACC: Heart Failure, 1(2), 149-155. [More Information]
Ingles, J., Sarina, T., Kasparian, N., Semsarian, C. (2013). Psychological wellbeing and posttraumatic stress associated with implantable cardioverter defibrillator therapy in young adults with genetic heart disease. International Journal of Cardiology, 168(4), 3779-3784. [More Information]
Ingles, J., Semsarian, C. (2013). The Australian Genetic Heart Disease Registry. International Journal of Cardiology, 168(4), e127-e128. [More Information]
Redfern, J., Ingles, J., Neubeck, A., Johnston, S., Semsarian, C. (2013). Tweeting Our Way to Cardiovascular Health. Journal of the American College of Cardiology, 61(15), 1657-1658. [More Information]
Ingles, J., McGaughran, J., Scuffham, P., Atherton, J., Semsarian, C. (2012). A cost-effectiveness model of genetic testing for the evaluation of families with hypertrophic cardiomyopathy. Heart, 98(8), 625-630. [More Information]
Ingles, J., Yeates, L., O'Brien, L., McGaughran, J., Scuffham, P., Atherton, J., Semsarian, C. (2012). Genetic testing for inherited heart diseases: longitudinal impact on health-related quality of life. Genetics in Medicine, 14(8), 749-752. [More Information]
Ingles, J., Zodgekar, P., Yeates, L., Macciocca, I., Semsarian, C., Fatkin, D., Members of CSANZ Cardiac Genetic Diseases Council Writing Group, M. (2011). Guidelines for genetic testing of inherited cardiac disorders. Heart, Lung, and Circulation, 20(11), 681-687. [More Information]
Bagnall, R., Ingles, J., Semsarian, C. (2011). Molecular diagnostics of cardiomyopathies: the future is here. Circulation Cardiovascular Genetics, 4(2), 103-104. [More Information]
Gray, B., Ingles, J., Semsarian, C. (2011). Natural history of genotype positive-phenotype negative patients with hypertrophic cardiomyopathy. International Journal of Cardiology, 152(2), 258-259. [More Information]
Ingles, J., Yeates, L., Semsarian, C. (2011). The emerging role of the cardiac genetic counselor. Heart Rhythm, 8(12), 1958-1962. [More Information]
Chiu, C., Bagnall, R., Ingles, J., Yeates, L., Kennerson, M., Donald, J., Jormakka, M., Lind, J., Semsarian, C. (2010). Mutations in Alpha-Actinin-2 Cause Hypertrophic Cardiomyopathy: A Genome-Wide Analysis. Journal of the American College of Cardiology, 55(11), 1127-1135. [More Information]
Ingles, J., McGaughran, J., Vohra, J., Weintraub, R., Davis, A., Atherton, J., Semsarian, C. (2008). Establishment of an Australian National Genetic Heart Disease Registry. Heart, Lung, and Circulation, 17(6), 463-467. [More Information]
Ingles, J., Lind, J., Phongsavan, P., Semsarian, C. (2008). Psychosocial impact of specialized cardiac genetic clinics for hypertrophic cardiomyopathy. Genetics in Medicine, 10(2), 117-120. [More Information]
Chiu, C., Tebo, M., Ingles, J., Yeates, L., Arthur, J., Lind, J., Semsarian, C. (2007). Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy. Journal of Molecular and Cellular Cardiology, 43, 337-343. [More Information]
Chiu, C., Ingles, J., Lind, J., Semsarian, C. (2006). Mutation analysis of the natriuretic peptide precursor B (NPPB) gene in patients with hypertrophic cardiomyopathy. DNA Sequence, 17(5), 392-395. [More Information]
Doolan, A., Tebo, M., Ingles, J., Nguyen, L., Tsoutsman, T., Lam, L., Chiu, C., Chung, J., Weintraub, R., Semsarian, C. (2005). Cardiac troponin I mutations in Australian families with hypertrophic cardiomyopathy: clinical, genetic and functional consequences. Journal of Molecular and Cellular Cardiology, 38(2), 387-93. [More Information]
Ingles, J., Doolan, A., Chiu, C., Seidman, J., Seidman, C., Semsarian, C. (2005). Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. Journal of Medical Genetics, 42(10), 1-6. [More Information]
Megevand, A., Ingles, J., Richmond, D., Semsarian, C. (2005). Long-term follow-up of patients with obstructive hypertrophic cardiomyopathy treated with dual-chamber pacing. American Journal of Cardiology, 95(8), 991-993. [More Information]
Jayatilleke, I., Doolan, A., Ingles, J., McGuire, M., Booth, V., Richmond, D., Semsarian, C. (2004). Long-Term Follow-Up Of Implantable Cardioverter Defibrillator Therapy For Hypertrophic Cardiomyopathy. American Journal of Cardiology, 93(9), 1192-1194. [More Information]
Doolan, G., Nguyen, L., Chung, J., Ingles, J., Semsarian, C. (2004). Progression Of Left Ventricular Hypertrophy And The Angiotensin-Converting Enzyme Gene Polymorphism In Hypertrophic Cardiomyopathy. International Journal of Cardiology, 96(2), 157-163. [More Information]

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Conferences

Neubeck, A., Lowres, N., Semsarian, C., Ingles, J., Johnston, S., Redfern, J. (2012). Social Media and Cardiac Rehabilitation: A Systematic Review. 22nd Australian Cardiovascular Health and Rehabilitation Association (ACRA) Annual Conference 2012, Brisbane, Queensland, Australia.

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2024

Hespe, S., Gray, B., Puranik, R., Peters, S., Sweeting, J., Ingles, J. (2024). The role of genetic testing in management and prognosis of individuals with inherited cardiomyopathies. Trends In Cardiovascular Medicine. [More Information]

2023

Burns, C., Yeates, L., Sweeting, J., Semsarian, C., Ingles, J. (2023). Evaluating a communication aid for return of genetic results in families with hypertrophic cardiomyopathy: A randomized controlled trial. Journal of Genetic Counseling, 32(2), 425-434. [More Information]
Van den Heuvel, L., Do, J., Yeates, L., Burns, C., Semsarian, C., Ingles, J. (2023). Sudden cardiac death in the young: A qualitative study of experiences of family members with cardiogenetic evaluation. Journal of Genetic Counseling. [More Information]

2022

Van den Heuvel, L., Sarina, T., Sweeting, J., Yeates, L., Bates, K., Spinks, C., O'Donnell, C., Sears, S., McGeechan, K., Semsarian, C., Ingles, J. (2022). A prospective longitudinal study of health-related quality of life and psychological wellbeing after an implantable cardioverter-defibrillator in patients with genetic heart diseases. Heart Rhythm O2, 3(2), 143-151. [More Information]
Isbister, J., Nowak, N., Yeates, L., Singer, E., Sy, R., Ingles, J., Raju, H., Bagnall, R., Semsarian, C. (2022). Concealed Cardiomyopathy in Autopsy-Inconclusive Cases of Sudden Cardiac Death and Implications for Families. Journal of the American College of Cardiology, 80(22), 2057-2068. [More Information]
Yeates, L., McDonald, K., Burns, C., Semsarian, C., Carter, S., Ingles, J. (2022). Decision-making and experiences of preimplantation genetic diagnosis in inherited heart diseases: a qualitative study. European Journal of Human Genetics, 30(2), 187-193. [More Information]
Norrish, G., Qu, C., Field, E., Cervi, E., Khraiche, D., Klaassen, S., Ojala, T., Sinagra, G., Yamazawa, H., Marrone, C., Ingles, J., Semsarian, C., et al (2022). External validation of the HCM Risk-Kids model for predicting sudden cardiac death in childhood hypertrophic cardiomyopathy. European Journal of Preventive Cardiology, 29(4), 678-686. [More Information]
Bagnall, R., Singer, E., Wacker, J., Nowak, N., Ingles, J., King, I., Macciocca, I., Crowe, J., Ronan, A., Weintraub, R., Semsarian, C. (2022). Genetic Basis of Childhood Cardiomyopathy. Circulation. Genomic and Precision Medicine, 15(6), E003686. [More Information]
Castelletti, S., Gray, B., Basso, C., Behr, E., Crotti, L., Elliott, P., Gonzalez Corcia, C., D'Ascenzi, F., Ingles, J., Loeys, B., et al (2022). Indications and utility of cardiac genetic testing in athletes. European Journal of Preventive Cardiology, 29(12), 1582-1591. [More Information]
Franciosi, S., Abrams, D., Ingles, J., Sanatani, S. (2022). Sudden Cardiac Arrest in the Paediatric Population. CJC Pediatric and Congenital Heart Disease, 1(2), 45-59. [More Information]
Stafford, F., Krishnan, N., Richardson, E., Butters, A., Hespe, S., Burns, C., Gray, B., Medi, C., Nowak, N., Isbister, J., Richmond, D., Singer, E., Sy, R., Yeates, L., Bagnall, R., Semsarian, C., Ingles, J., et al (2022). The role of genetic testing in diagnosis and care of inherited cardiac conditions in a specialised multidisciplinary clinic. Genome Medicine, 14(1). [More Information]
Yeates, L., Gardner, K., Do, J., Van Den Heuvel, L., Fleming, G., Semsarian, C., McEwen, A., Adlard, L., Ingles, J. (2022). Using codesign focus groups to develop an online COmmunity suPporting familiEs after Sudden Cardiac Death (COPE-SCD) in the young. BMJ Open, 12(8). [More Information]

show 6 more

2021

Isbister, J., Nowak, N., Butters, A., Yeates, L., Gray, B., Sy, R., Ingles, J., Bagnall, R., Semsarian, C. (2021). "Concealed cardiomyopathy" as a cause of previously unexplained sudden cardiac arrest. International Journal of Cardiology, 324, 96-101. [More Information]
Stiles, M., Wilde, A., Abrams, D., Ackerman, M., Albert, C., Behr, E., Chugh, S., Cornel, M., Gardner, K., Ingles, J., Semsarian, C., et al (2021). 2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families. Heart Rhythm, 18(1), e1-e50. [More Information]
Stiles, M., Wilde, A., Abrams, D., Ackerman, M., Albert, C., Behr, E., Chugh, S., Cornel, M., Gardner, K., Ingles, J., Semsarian, C., et al (2021). 2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families. Journal of Arrhythmia, 37(3), 481-534. [More Information]
Jordan, E., Peterson, L., Ai, T., Asatryan, B., Bronicki, L., Brown, E., Celeghin, R., Edwards, M., Fan, J., Ingles, J., Semsarian, C., et al (2021). An Evidence-Based Assessment of Genes in Dilated Cardiomyopathy. Circulation, 144(1), 7-19. [More Information]
Kim, S., Bennett, R., Ingles, J., Kumar, S., Zaman, S. (2021). Arrhythmia in Cardiomyopathy: Sex and Gender Differences. Current Heart Failure Reports, 18(5), 274-283. [More Information]
Lakdawala, N., Olivotto, I., Day, S., Han, L., Ashley, E., Michels, M., Ingles, J., Semsarian, C., Jacoby, D., Jefferies, J., et al (2021). Associations Between Female Sex, Sarcomere Variants, and Clinical Outcomes in Hypertrophic Cardiomyopathy. Circulation. Genomic and Precision Medicine, 14(1), e003062. [More Information]
Singer, E., Ross, S., Skinner, J., Weintraub, R., Ingles, J., Semsarian, C., Bagnall, R. (2021). Characterization of clinically relevant copy-number variants from exomes of patients with inherited heart disease and unexplained sudden cardiac death. Genetics in Medicine, 23(1), 86-93. [More Information]
Marston, N., Han, L., Olivotto, I., Day, S., Ashley, E., Michels, M., Pereira, A., Ingles, J., Semsarian, C., Jacoby, D., et al (2021). Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy. European Heart Journal, 42(20), 1988-1996. [More Information]
Butters, A., Semsarian, C., Bagnall, R., Yeates, L., Stafford, F., Burns, C., Semsarian, C., Ingles, J. (2021). Clinical Profile and Health Disparities in a Multiethnic Cohort of Patients With Hypertrophic Cardiomyopathy. Circulation. Heart Failure, 14(3), e007537. [More Information]
Thompson, A., Helms, A., Kannan, A., Yob, J., Lakdawala, N., Wittekind, S., Pereira, A., Jacoby, D., Colan, S., Ashley, E., Ingles, J., Semsarian, C., et al (2021). Computational prediction of protein subdomain stability in MYBPC3 enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation. Genetics in Medicine, 23(7), 1281-1287. [More Information]
Repetti, G., Kim, Y., Pereira, A., Ingles, J., Russell, M., Lakdawala, N., Ho, C., Day, S., Semsarian, C., McDonough, B., et al (2021). Discordant clinical features of identical hypertrophic cardiomyopathy twins. Proceedings of the National Academy of Sciences of the United States of America, 118(10), e2021717118. [More Information]
Zhang, X., Walsh, R., Whiffin, N., Buchan, R., Midwinter, W., Wilk, A., Govind, R., Li, N., Ahmad, M., Mazzarotto, F., Semsarian, C., Ingles, J., et al (2021). Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions. Genetics in Medicine, 23(1), 69-79. [More Information]
Lacaze, P., Sebra, R., Riaz, M., Ingles, J., Tiller, J., Thompson, B., James, P., Fatkin, D., Semsarian, C., Reid, C., et al (2021). Genetic variants associated with inherited cardiovascular disorders among 13,131 asymptomatic older adults of European descent. npj Genomic Medicine, 6(1), 51. [More Information]
Van den Heuvel, L., Do, J., Yeates, L., MacLeod, H., James, C., Duflou, J., Skinner, J., Semsarian, C., van Tintelen, J., Ingles, J. (2021). Global approaches to cardiogenetic evaluation after sudden cardiac death in the young: A survey among health care professionals. Heart Rhythm, 18(10), 1637-1644. [More Information]
Morales, A., Ing, A., Antolik, C., Austin-Tse, C., Baudhuin, L., Bronicki, L., Cirino, A., Hawley, M., Fietz, M., Garcia, J., Ingles, J., et al (2021). Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM): A Study from the ClinGen Cardiomyopathy Variant Curation Expert Panel. The Journal of Molecular Diagnostics, 23(5), 589-598. [More Information]
Stafford, F., Thomson, K., Butters, A., Ingles, J. (2021). Hypertrophic Cardiomyopathy: Genetic Testing and Risk Stratification. Current Cardiology Reports, 23(2), 9. [More Information]
Austin, R., Quinn, M., Afoakwah, C., Metke-Jimenez, A., Leroux, H., Atherton, J., Brown, J., Wornham, L., Macciocca, I., De Silva, M., Wu, K., Ingles, J., Semsarian, C., et al (2021). Investigation of current models of care for genetic heart disease in Australia: A national clinical audit. International Journal of Cardiology, 330, 128-134. [More Information]
Semsarian, C., Ingles, J., Ross, S., Dunwoodie, S., Bagnall, R., Kovacic, J. (2021). Precision Medicine in Cardiovascular Disease: Genetics and Impact on Phenotypes: JACC Focus Seminar 1/5. Journal of the American College of Cardiology, 77(20), 2517-2530. [More Information]
Butters, A., Lakdawala, N., Ingles, J. (2021). Sex Differences in Hypertrophic Cardiomyopathy: Interaction With Genetics and Environment. Current Heart Failure Reports, 18(5), 264-273. [More Information]
Butters, A., Arnott, C., Winkel, B., Semsarian, C., Ingles, J. (2021). Sex Disparities in Sudden Cardiac Death. Circulation. Arrhythmia and Electrophysiology, 14(8), e009834-1-e009834-12. [More Information]
Baudhuin, L., De Backer, J., Ingles, J., Milewicz, D., Tybjaerg-Hansen, A. (2021). The Dynamic and Multifaceted Nature of Cardiovascular Disease and Using Genetic Testing to Inform Clinical Care: An International Perspective. Clinical Chemistry, 67(1), 33-40. [More Information]
Paratz, E., Rowsell, L., van Heusden, A., Zentner, D., Parsons, S., Morgan, N., Thompson, T., James, P., Pflaumer, A., Semsarian, C., Ingles, J., et al (2021). The End Unexplained Cardiac Death (EndUCD) Registry for Young Australian Sudden Cardiac Arrest. Heart, Lung, and Circulation, 30(5), 714-720. [More Information]
Dries, A., Kirillova, A., Reuter, C., Garcia, J., Zouk, H., Hawley, M., Murray, B., Tichnell, C., Pilichou, K., Protonotarios, A., Ingles, J., Semsarian, C., et al (2021). The genetic architecture of Plakophilin 2 cardiomyopathy. Genetics in Medicine, 23(10), 1961-1968. [More Information]
Holliday, M., Singer, E., Ross, S., Lim, S., Lal, S., Ingles, J., Semsarian, C., Bagnall, R. (2021). Transcriptome Sequencing of Patients with Hypertrophic Cardiomyopathy Reveals Novel Splice-altering Variants in MYBPC3. Circulation. Genomic and Precision Medicine, 14(2), e003202. [More Information]
Nauffal, V., Marstrand, P., Han, L., Parikh, V., Helms, A., Ingles, J., Jacoby, D., Lakdawala, N., Kapur, S., Michels, M., Semsarian, C., et al (2021). Worldwide differences in primary prevention implantable cardioverter defibrillator utilization and outcomes in hypertrophic cardiomyopathy. European Heart Journal, 42(38), 3932-3944. [More Information]

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2020

Miron, A., Lafreniere-Roula, M., Steve Fan, C., Armstrong, K., Dragulescu, A., Papaz, T., Manlhiot, C., Kaufman, B., Butts, R., Gardin, L., Ingles, J., Semsarian, C., et al (2020). A validated model for sudden cardiac death risk prediction in pediatric hypertrophic cardiomyopathy. Circulation, 142(3), 217-229. [More Information]
Ng, K., Titus, E., Lieve, K., Roston, T., Mazzanti, A., Deiter, F., Denjoy, I., Ingles, J., Till, J., Robyns, T., Semsarian, C., et al (2020). An International Multicenter Evaluation of Inheritance Patterns, Arrhythmic Risks, and Underlying Mechanisms of CASQ2-Catecholaminergic Polymorphic Ventricular Tachycardia. Circulation, 142(10), 932-947. [More Information]
Eberly, L., Day, S., Ashley, E., Jacoby, D., Jefferies, J., Colan, S., Rossano, J., Semsarian, C., Pereira, A., Olivotto, I., Ingles, J., et al (2020). Association of Race with Disease Expression and Clinical Outcomes among Patients with Hypertrophic Cardiomyopathy. JAMA Cardiology, 5(1), 83-91. [More Information]
Fioretti, C., Magni1, E., Barlocco, F., Tomberli, A., Baldini, K., Ingles, J., Smorti, A., Olivotto, I. (2020). Doctor-patient care relationship in genetic cardiomyopathies: An exploratory study on clinical consultations. PloS One, 15(8), 1-13. [More Information]
Butters, A., Isbister, J., Medi, C., Raju, H., Turner, C., Sy, R., Semsarian, C., Ingles, J. (2020). Epidemiology and clinical characteristics of atrial fibrillation in patients with inherited heart diseases. Journal of Cardiovascular Electrophysiology, 31(2), 465-473. [More Information]
Ross, S., Singer, E., Driscoll, E., Nowak, N., Yeates, L., Puranik, R., Sy, R., Rajagopalan, S., Barratt, A., Ingles, J., Bagnall, R., Semsarian, C. (2020). Genetic architecture of left ventricular noncompaction in adults. Human Genome Variation, 7(1), 33. [More Information]
Ingles, J., Macciocca, I., Morales, A., Thomson, K. (2020). Genetic Testing in Inherited Heart Diseases. Heart, Lung, and Circulation, 29(4), 505-511. [More Information]
O'Donovan, C., Ingles, J., Broadbent, E., Skinner, J., Kasparian, N. (2020). How Patient Perceptions Shape Responses and Outcomes in Inherited Cardiac Conditions. Heart, Lung, and Circulation, 29(4), 641-652. [More Information]
Marstrand, P., Han, L., Day, S., Olivotto, I., Ashley, E., Michels, M., Pereira, A., Wittekind, S., Helms, A., Saberi, S., Semsarian, C., Ingles, J., et al (2020). Hypertrophic Cardiomyopathy with Left Ventricular Systolic Dysfunction: Insights from the SHaRe Registry. Circulation, 141(17), 1371-1383. [More Information]
Ingles, J., Semsarian, C. (2020). Making The Case For Cascade Screening Amongst Families With Inherited Heart Diseases. Heart Rhythm, 17(1), 113-114. [More Information]
McDonald, K., Sharpe, L., Yeates, L., Semsarian, C., Ingles, J. (2020). Needs analysis of parents following sudden cardiac death in the young. Open Heart, 7(2), 1-5. [More Information]
Moonen, A., Lal, S., Ingles, J., Yeates, L., Semsarian, C., Puranik, R. (2020). Prevalence of Anderson-Fabry disease in a cohort with unexplained late gadolinium enhancement on cardiac MRI. International Journal of Cardiology, 304, 122-124. [More Information]
Ingles, J. (2020). Psychological issues in managing families with inherited cardiovascular diseases. Cold Spring Harbor Perspectives in Medicine, 10(9), a036558. [More Information]
Butters, A., Bagnall, R., Ingles, J. (2020). Revisiting the Diagnostic Yield of Hypertrophic Cardiomyopathy Genetic Testing. Circulation. Genomic and Precision Medicine, 13(2), e002930. [More Information]
Helms, A., Thompson, A., Glazier, A., Hafeez, N., Kabani, S., Rodriguez, J., Yob, J., Woolcock, H., Mazzarotto, F., Lakdawala, N., Ingles, J., Semsarian, C., et al (2020). Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients with Hypertrophic Cardiomyopathy. Circulation. Genomic and Precision Medicine, 13(5), 396-405. [More Information]
Ingles, J., Semsarian, C. (2020). Time to Rethink the Genetic Architecture of Long QT Syndrome. Circulation, 141(6), 440-443. [More Information]
Yeates, L., McEwen, A., Ingles, J. (2020). What do we do and how do we do it? Assessing genetic counselling in the modern era. European Journal of Human Genetics, 28(9), 1137-1138. [More Information]
Ingles, J., Ware, J. (2020). What Is the Risk of Sudden Cardiac Arrest in Inherited Cardiac Conditions? Journal of the American College of Cardiology, 75(21), 2708-2710. [More Information]

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2019

Towbin, J., McKenna, W., Abrams, D., Ackerman, M., Calkins, H., Darrieux, F., Daubert, J., de Chillou, C., DePasquale, E., Desai, M., Ingles, J., et al (2019). 2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy. Heart Rhythm, 16(11), e301-e372. [More Information]
Towbin, J., McKenna, W., Abrams, D., Ackerman, M., Calkins, H., Darrieux, F., Daubert, J., de Chillou, C., DePasquale, E., Desai, M., Ingles, J., et al (2019). 2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy: Executive summary. Heart Rhythm, 16(11), e373-e407. [More Information]
Yeates, L., Ingles, J., Gray, B., Singarayar, S., Sy, R., Semsarian, C., Bagnall, R. (2019). A balanced translocation disrupting SCN5A in a family with Brugada syndrome and sudden cardiac death. Heart Rhythm, 16(2), 231-238. [More Information]
Ingles, J., Semsarian, C. (2019). An Unexpected FLNC Phenotype: Expanding the Clinical Spectrum or a Second-Hit Disease Mechanism? Mayo Clinic Proceedings, 94(5), 751-753. [More Information]
Ingles, J., Bagnall, R., Semsarian, C., Das K, J. (2019). Correction: Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment. Genetics in Medicine, 21(5), 1264. [More Information]
Burns, C., Yeates, L., Semsarian, C., Ingles, J. (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, 9(1), e026627. [More Information]
Ingles, J., Goldstein, J., Thaxton, C., Caleshu, C., Corty, E., Crowley, S., Dougherty, K., Harrison, S., McGlaughon, J., Milko, L., Semsarian, C., et al (2019). Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes. Circulation. Genomic and Precision Medicine, 12(2), 57-64. [More Information]
Semsarian, C., Ingles, J. (2019). Genetics of HCM and Role of Genetic Testing. In Srihari S. Naidu (Eds.), Hypertrophic cardiomyopathy, (pp. 83-91). Cham: Springer. [More Information]
Minoche, A., Horvat, C., Johnson, R., Gayevskiy, V., Morton, S., Drew, A., Woo, K., Statham, A., Lundie, B., Bagnall, R., Ingles, J., Semsarian, C., et al (2019). Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy. Genetics in Medicine, 21(3), 650-662. [More Information]
van der Werf, C., Lieve, K., Bos, J., Lane, C., Denjoy, I., Roses-Noguer, F., Aiba, T., Wada, Y., Ingles, J., Leren, I., Semsarian, C., et al (2019). Implantable cardioverter-defibrillators in previously undiagnosed patients with catecholaminergic polymorphic ventricular tachycardia resuscitated from sudden cardiac arrest. European Heart Journal, 40(35), 2953-2961. [More Information]
Singer, E., Ingles, J., Semsarian, C., Bagnall, R. (2019). Key Value of RNA Analysis of MYBPC3 Splice-Site Variants in Hypertrophic Cardiomyopathy. Circulation. Genomic and Precision Medicine, 12(1), 32-39. [More Information]
Papoutsidakis, N., Heitner, S., Ingles, J., Semsarian, C., Mannello, M., Salberg, L., Waldman, C., Vaccaro, B., Maurizi, N., Olivotto, I., et al (2019). Participation in thrill-seeking activities by patients with hypertrophic cardiomyopathy: Individual preferences, adverse events and physician attitude. American Heart Journal, 214, 28-35. [More Information]
Wong, E., Bartels, K., Hathaway, J., Burns, C., Yeates, L., Semsarian, C., Krahn, A., Virani, A., Ingles, J. (2019). Perceptions of genetic variant reclassification in patients with inherited cardiac disease. European Journal of Human Genetics, 27(7), 1134-1142. [More Information]
Bates, K., Sweeting, J., Yeates, L., McDonald, K., Semsarian, C., Ingles, J. (2019). Psychological adaptation to molecular autopsy findings following sudden cardiac death in the young. Genetics in Medicine, 21(6), 1452-1456. [More Information]
Parikh, V., Caleshu, C., Reuter, C., Lazzeroni, L., Ingles, J., Garcia, J., McCaleb, K., Adesiyun, T., Sedaghat-Hamedani, F., Kumar, S., Semsarian, C., et al (2019). Regional Variation in RBM20 Causes a Highly Penetrant Arrhythmogenic Cardiomyopathy. Circulation. Heart Failure, 12(3), 1-9. [More Information]
Ingles, J., Semsarian, C. (2019). Response by Ingles and Semsarian to Letter Regarding Article, "Concealed Arrhythmogenic Right Ventricular Cardiomyopathy in Sudden Unexplained Cardiac Death Events". Circulation. Genomic and Precision Medicine, 12(3), 141-142. [More Information]
Minoche, A., Horvat, C., Johnson, R., Gayevskiy, V., Morton, S., Drew, A., Woo, K., Statham, A., Lundie, B., Bagnall, R., Ingles, J., Semsarian, C., et al (2019). Response to Brodehl et al. Genetics in Medicine, 21(5), 1248-1249. [More Information]

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2018

Sweeting, J., Ingles, J., Ball, K., Semsarian, C. (2018). A Control Theory-Based Pilot Intervention to Increase Physical Activity in Patients With Hypertrophic Cardiomyopathy. American Journal of Cardiology, 122(5), 866-871. [More Information]
Kelly, M., Caleshu, C., Morales, A., Buchan, J., Wolf, Z., Harrison, S., Cook, S., Dillon, M., Garcia, J., Haverfield, E., Ingles, J., Semsarian, C., et al (2018). Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel. Genetics in Medicine, 20(3), 351-359. [More Information]
Burns, C., James, C., Ingles, J. (2018). Communication of genetic information to families with inherited rhythm disorders. Heart Rhythm, 15(5), 780-786. [More Information]
Ingles, J., Bagnall, R., Yeates, L., McGrady, M., Berman, Y., Whalley, D., Duflou, J., Semsarian, C. (2018). Concealed Arrhythmogenic Right Ventricular Cardiomyopathy in Sudden Unexplained Cardiac Death Events. Circulation. Genomic and Precision Medicine, 11(11), 1-3. [More Information]
Sweeting, J., Ingles, J., Ball, K., Semsarian, C. (2018). Daily Step Count as a Simple Marker of Disease Severity in Hypertrophic Cardiomyopathy. Heart, Lung, and Circulation, 27(6), 752-755. [More Information]
Ingles, J., Semsarian, C. (2018). Family Matters: Outcomes of Hypertrophic Cardiomyopathy Family Screening. Circulation. Genomic and Precision Medicine, 11(4), e002112. [More Information]
Ingles, J., Bagnall, R., Semsarian, C. (2018). Genetic Testing for Cardiomyopathies in Clinical Practice. Heart Failure Clinics, 14(2), 129-137. [More Information]
Blanch, B., Lago, L., Sy, R., Harris, P., Semsarian, C., Ingles, J. (2018). Implantable cardioverter-defibrillator therapy in Australia, 2002-2015. Medical Journal of Australia, 209(3), 123-129. [More Information]
Gray, B., Hasdemir, C., Ingles, J., Aiba, T., Makita, N., Probst, V., Wilde, A., Newbury-Ecob, R., Sheppard, M., Semsarian, C., Sy, R., et al (2018). Lack of genotype-phenotype correlation in Brugada Syndrome and Sudden Arrhythmic Death Syndrome families with reported pathogenic SCN1B variants. Heart Rhythm, 15(7), 1051-1057. [More Information]
Bonner, C., Spinks, C., Semsarian, C., Barratt, A., Ingles, J., McCaffery, K. (2018). Psychosocial Impact of a Positive Gene Result for Asymptomatic Relatives at Risk of Hypertrophic Cardiomyopathy. Journal of Genetic Counseling, 27(5), 1040-1048. [More Information]
Richardson, E., Spinks, C., Davis, A., Turner, C., Atherton, J., McGaughran, J., Semsarian, C., Ingles, J. (2018). Psychosocial Implications of Living with Catecholaminergic Polymorphic Ventricular Tachycardia in Adulthood. Journal of Genetic Counseling, 27(3), 549-557. [More Information]
Oomen, A., Jones, K., Yeates, L., Semsarian, C., Ingles, J., Sy, R. (2018). Rare desmin variant causing penetrant life-threatening arrhythmic cardiomyopathy. Heart Rhythm Case Reports, 4(7), 318-323. [More Information]
Gray, B., Gnanappa, G., Bagnall, R., Femia, G., Yeates, L., Ingles, J., Burns, C., Puranik, R., Grieve, S., Semsarian, C., Sy, R. (2018). Relations between right ventricular morphology and clinical, electrical and genetic parameters in Brugada Syndrome. PloS One, 13(4), 1-14. [More Information]
Bagnall, R., Ingles, J., Dinger, M., Cowley, M., Ross, S., Minoche, A., Lal, S., Turner, C., Colley, A., Rajagopalan, S., Semsarian, C., et al (2018). Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy. Journal of the American College of Cardiology, 72(4), 419-429. [More Information]

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2017

Semsarian, C., Ingles, J. (2017). A clinical approach to genetic testing for non-specialists. BMJ, 358, 1-5. [More Information]
Burns, C., Yeates, L., Spinks, C., Semsarian, C., Ingles, J. (2017). Attitudes, knowledge and consequences of uncertain genetic findings in hypertrophic cardiomyopathy. European Journal of Human Genetics, 25(7), 809-815. [More Information]
Ross, S., Bagnall, R., Ingles, J., Van Tintelen, P., Semsarian, C. (2017). Burden of Recurrent and Ancestral Mutations in Families with Hypertrophic Cardiomyopathy. Circulation: Cardiovascular Genetics, 10(3), 1-7. [More Information]
Gray, B., Ingles, J., Medi, C., Driscoll, T., Semsarian, C. (2017). Cardiovascular Effects of Energy Drinks in Familial Long QT Syndrome: A Randomized Cross-Over Study. International Journal of Cardiology, 231, 150-154. [More Information]
Smagarinsky, Y., Burns, C., Spinks, C., Semsarian, C., Ingles, J. (2017). Development of a communication aid for explaining hypertrophic cardiomyopathy genetic test results. Pilot and Feasibility Studies, 3(1), 1-9. [More Information]
Ingles, J., Bos, J. (2017). Editorial commentary: Genetic contributions to cardiovascular disease: The blurred lines between monogenic and polygenic traits. Trends In Cardiovascular Medicine, 27(6), 405-407. [More Information]
Bagnall, R., Ingles, J., Yeates, L., Berkovic, S., Semsarian, C. (2017). Exome sequencing-based molecular autopsy of formalin-fixed paraffin-embedded tissue after sudden death. Genetics in Medicine, 19(10), 1127-1133. [More Information]
Sweeting, J., Ball, K., McGaughran, J., Atherton, J., Semsarian, C., Ingles, J. (2017). Impact of the implantable cardioverter defibrillator on confidence to undertake physical activity in inherited heart disease: A cross-sectional study. European Journal of Cardiovascular Nursing, 16(8), 742-752. [More Information]
Martin, S., Ingles, J., Hunyor, I., Bagnall, R., Puranik, R., Semsarian, C. (2017). LAMP2 shines a light on cardiomyopathy in an athlete. Heart Rhythm Case Reports, 3(3), 172-176. [More Information]
Rhodes, A., Rosman, L., Cahill, J., Ingles, J., Murray, B., Tichnell, C., James, C., Sears, S. (2017). Minding the Genes: a Multidisciplinary Approach towards Genetic Assessment of Cardiovascular Disease. Journal of Genetic Counseling, 26(2), 224-231. [More Information]
Burns, C., Bagnall, R., Lam, L., Semsarian, C., Ingles, J. (2017). Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing. Circulation Cardiovascular Genetics, 10(4), 1-8. [More Information]
Ingles, J., Burns, C., Bagnall, R., Lam, L., Yeates, L., Sarina, T., Puranik, R., Briffa, T., Atherton, J., Driscoll, T., Semsarian, C. (2017). Nonfamilial Hypertrophic Cardiomyopathy: Prevalence, Natural History, and Clinical Implications. Circulation Cardiovascular Genetics, 10(2), 1-11. [More Information]
Ingles, J., Burns, C., Funke, B. (2017). Pathogenicity of Hypertrophic Cardiomyopathy Variants: A Path Forward Together. Brain Circulation, 10(5). [More Information]
Ingles, J., James, C. (2017). Psychosocial care and cardiac genetic counseling following sudden cardiac death in the young. Progress in Pediatric Cardiology, 45, 31-36. [More Information]
Cirino, A., Harris, S., Lakdawala, N., Michels, M., Olivotto, I., Day, S., Abrams, D., Charron, P., Caleshu, C., Semsarian, C., Ingles, J., et al (2017). Role of genetic testing in inherited cardiovascular disease: A review. JAMA Cardiology, 2(10), 1153-1160. [More Information]
Blanch, B., Sweeting, J., Semsarian, C., Ingles, J. (2017). Routinely collected health data to study inherited heart disease: a systematic review (2000 -2016). Open Heart, 4, 1-8. [More Information]
Feng, J., Nedkoff, L., Knuiman, M., Semsarian, C., Ingles, J., Briffa, T., Hickling, S. (2017). Temporal Trends in Sudden Cardiac Death From 1997 to 2010: A Data Linkage Study. Heart, Lung, and Circulation, 26(8), 808-816. [More Information]

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2016

Gray, B., Bagnall, R., Lam, L., Ingles, J., Turner, C., Haan, E., Davis, A., Yang, P., Clancy, C., Sy, R., Semsarian, C. (2016). A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia. Heart Rhythm, 13(8), 1652-1660. [More Information]
Bagnall, R., Weintraub, R., Ingles, J., Duflou, J., Yeates, L., Lam, L., Davis, A., Thompson, T., Connell, V., Wallace, J., Puranik, R., Semsarian, C., et al (2016). A Prospective Study of Sudden Cardiac Death among Children and Young Adults. New England Journal of Medicine, 374(25), 2441-2452. [More Information]
Burns, C., Ingles, J., Davis, A., Connell, V., Gray, B., Hunt, L., McGaughran, J., Semsarian, C. (2016). Clinical and genetic features of Australian families with long QT syndrome: A registry-based study. Journal of Arrhythmia, 32(6), 456-461. [More Information]
Burns, C., McGaughran, J., Davis, A., Semsarian, C., Ingles, J. (2016). Factors influencing uptake of familial long QT syndrome genetic testing. American Journal of Medical Genetics, Part A, 170(2), 418-425. [More Information]
Caleshu, C., Kasparian, N., Edwards, K., Yeates, L., Semsarian, C., Perez, M., Ashley, E., Turner, C., Knowles, J., Ingles, J. (2016). Interdisciplinary psychosocial care for families with inherited cardiovascular diseases. Trends In Cardiovascular Medicine, 26(7), 647-653. [More Information]
Semsarian, C., Ingles, J. (2016). Molecular autopsy in victims of inherited arrhythmias. Journal of Arrhythmia, 32(5), 359-365. [More Information]
Sweeting, J., Ingles, J., Timperio, A., Patterson, J., Ball, K., Semsarian, C. (2016). Physical activity in hypertrophic cardiomyopathy: Prevalence of inactivity and perceived barriers. Open Heart, 3(2), 1-9. [More Information]
Ingles, J., Spinks, C., Yeates, L., McGeechan, K., Kasparian, N., Semsarian, C. (2016). Posttraumatic stress and prolonged grief after the sudden cardiac death of a young relative. JAMA Internal Medicine, 176(3), 402-405. [More Information]
Semsarian, C., Ingles, J. (2016). Preventing sudden cardiac death in athletes. BMJ, 353, 1-2. [More Information]
Sweeting, J., Ingles, J., Ball, K., Semsarian, C. (2016). Sudden deaths during the largest community running event in Australia: A 25-year review. International Journal of Cardiology, 203, 1029-1031. [More Information]

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2015

Ingles, J., Burns, C., Barratt, A., Semsarian, C. (2015). Application of Genetic Testing in Hypertrophic Cardiomyopathy for Preclinical Disease Detection. Circulation: Cardiovascular Genetics, 8(6), 852-859. [More Information]
Sweeting, J., Ingles, J., Ball, K., Semsarian, C. (2015). Challenges of Exercise Recommendations and Sports Participation in Genetic Heart Disease Patients. Circulation Cardiovascular Genetics, 8(1), 178-186. [More Information]
Semsarian, C., Ingles, J. (2015). Determining pathogenicity in cardiac genetic testing: Filling in the blank spaces. Trends In Cardiovascular Medicine, 25(7), 653-654. [More Information]
Lam, L., Ingles, J., Turner, C., Kilborn, M., Bagnall, R., Semsarian, C. (2015). Exome sequencing identifies a novel mutation in the MYH6 gene in a family with early-onset sinus node dysfunction, ventricular arrhythmias, and cardiac arrest. Heart Rhythm Case Reports, 1(3), 141-145. [More Information]
Semsarian, C., Ingles, J. (2015). Genetics of HCM and Role of Genetic Testing. In Srihari S. Naidu (Eds.), Hypertrophic Cardiomyopathy, (pp. 77-84). London: Springer-Verlag. [More Information]
Semsarian, C., Ingles, J. (2015). Letter by Semsarian and Ingles regarding article, A randomized trial of social media from Circulation"". Circulation, 131(13), e394. [More Information]
Semsarian, C., Ingles, J., Maron, M., Maron, B. (2015). New Perspectives on the Prevalence of Hypertrophic Cardiomyopathy. Journal of the American College of Cardiology, 65(12), 1249-1254. [More Information]
Earle, N., Ingles, J., Bagnall, R., Gray, B., Crawford, J., Smith, W., Shelling, A., Love, D., Semsarian, C., Skinner, J. (2015). NOS1AP polymorphisms modify QTc interval duration but not cardiac arrest risk in hypertrophic cardiomyopathy. Journal of Cardiovascular Electrophysiology, 26(12), 1346-1351. [More Information]
Tully, I., Atherton, J., Hunt, L., Ingles, J., Semsarian, C., McGaughran, J. (2015). Rarity and phenotypic heterogeneity provide challenges in the diagnosis of Andersen-Tawil syndrome: Two cases presenting with ECGs mimicking catecholaminergic polymorphic ventricular tachycardia (CPVT). International Journal of Cardiology, 201, 473-475. [More Information]
Ingles, J., Johnson, R., Sarina, T., Yeates, L., Burns, C., Gray, B., Ball, K., Semsarian, C. (2015). Social determinants of health in the setting of hypertrophic cardiomyopathy. International Journal of Cardiology, 184(1), 743-749. [More Information]
Semsarian, C., Ingles, J., Wilde, A. (2015). Sudden cardiac death in the young: the molecular autopsy and a practical approach to surviving relatives. European Heart Journal, 36(21), 1290-1296. [More Information]
Feng, J., Hickling, S., Nedkoff, L., Knuiman, M., Semsarian, C., Ingles, J., Briffa, T. (2015). Sudden cardiac death rates in an Australian population: A data linkage study. Australian Health Review, 39(5), 561-567. [More Information]
Ingles, J., Burns, C. (2015). The social gradient of taking a family history. European Journal of Cardiovascular Nursing, 14(1), 6-7. [More Information]

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2014

Burns, C., Semsarian, C., Ingles, J. (2014). Access, uptake and communication of genetic test results in Australian families with long QT syndrome (LQTS). Heart, Lung, and Circulation, 23(S2), e7.
Driscoll, E., Ingles, J., Semsarian, C. (2014). Clinical and genetic characteristics of hypertrophic cardiomyopathy patients with end-stage disease: A registry-based study. Heart, Lung, and Circulation, 23(S2), e8-e9.
Ingles, J., Semsarian, C. (2014). Conveying a probabilistic genetic test result to families with an inherited heart disease. Heart Rhythm, 11(6), 1073-1078. [More Information]
Kozlovski, J., Ingles, J., Connell, V., Hunt, L., McGaughran, J., Turner, C., Davis, A., Sy, R., Semsarian, C. (2014). Delay to diagnosis amongst patients with catecholaminergic polymorphic ventricular tachycardia. International Journal of Cardiology, 176(3), 1402-1404. [More Information]
Das K, J., Ingles, J., Bagnall, R., Semsarian, C. (2014). Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment. Genetics in Medicine, 16(4), 286-293. [More Information]
Semsarian, C., Ingles, J. (2014). Genetic Testing. In Douglas Zipes, Jose Jalife (Eds.), Cardiac Electrophysiology: From Cell to Bedside. Sixth Edition, (pp. 685-690). Philadelphia: Elsevier. [More Information]
Bagnall, R., Ingles, J., Semsarian, C. (2014). Illumina TruSight Cardiomyopathy Sequencing Panel: Application to hypertrophic cardiomyopathy. Heart, Lung, and Circulation, 23(S2), e5.
Semsarian, C., Sweeting, J., Ingles, J. (2014). Sudden death in athletes: Preventable or inevitable? Heart Rhythm, 11(10), 1682-1683. [More Information]
Ingles, J., Semsarian, C. (2014). The value of cardiac genetic testing. Trends In Cardiovascular Medicine, 24(6), 217-224. [More Information]

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2013

Ingles, J., Sarina, T., Yeates, L., Hunt, L., Macciocca, I., McCormack, L., Winship, I., McGaughran, J., Atherton, J., Semsarian, C. (2013). Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy. Genetics in Medicine, 15(12), 972-977. [More Information]
Semsarian, C., Ingles, J. (2013). Expanding the genetic spectrum of hypertrophic cardiomyopathy: x marks the spot. Circulation Cardiovascular Genetics, 6(6), 528-530. [More Information]
Ingles, J., Yeates, L., Hunt, L., McGaughran, J., Scuffham, P., Atherton, J., Semsarian, C. (2013). Health status of cardiac genetic disease patients and their at-risk relatives. International Journal of Cardiology, 165(3), 448-453. [More Information]
Gray, B., Yeates, L., Medi, C., Ingles, J., Semsarian, C. (2013). Homozygous mutation in the cardiac troponin I gene: Clinical heterogeneity in hypertrophic cardiomyopathy. International Journal of Cardiology, 168(2), 1530-1531. [More Information]
Yeates, L., Hunt, L., Saleh, M., Semsarian, C., Ingles, J. (2013). Poor psychological wellbeing particularly in mothers following sudden cardiac death in the young. European Journal of Cardiovascular Nursing, 12(5), 484-491. [More Information]
Gray, B., Ingles, J., Medi, C., Semsarian, C. (2013). Prolongation of the QTc Interval Predicts Appropriate Implantable Cardioverter-Defibrillator Therapies in Hypertrophic Cardiomyopathy. JACC: Heart Failure, 1(2), 149-155. [More Information]
Ingles, J., Sarina, T., Kasparian, N., Semsarian, C. (2013). Psychological wellbeing and posttraumatic stress associated with implantable cardioverter defibrillator therapy in young adults with genetic heart disease. International Journal of Cardiology, 168(4), 3779-3784. [More Information]
Ingles, J., Semsarian, C. (2013). The Australian Genetic Heart Disease Registry. International Journal of Cardiology, 168(4), e127-e128. [More Information]
Redfern, J., Ingles, J., Neubeck, A., Johnston, S., Semsarian, C. (2013). Tweeting Our Way to Cardiovascular Health. Journal of the American College of Cardiology, 61(15), 1657-1658. [More Information]

show 6 more

2012

Ingles, J., McGaughran, J., Scuffham, P., Atherton, J., Semsarian, C. (2012). A cost-effectiveness model of genetic testing for the evaluation of families with hypertrophic cardiomyopathy. Heart, 98(8), 625-630. [More Information]
Ingles, J., Yeates, L., O'Brien, L., McGaughran, J., Scuffham, P., Atherton, J., Semsarian, C. (2012). Genetic testing for inherited heart diseases: longitudinal impact on health-related quality of life. Genetics in Medicine, 14(8), 749-752. [More Information]
Neubeck, A., Lowres, N., Semsarian, C., Ingles, J., Johnston, S., Redfern, J. (2012). Social Media and Cardiac Rehabilitation: A Systematic Review. 22nd Australian Cardiovascular Health and Rehabilitation Association (ACRA) Annual Conference 2012, Brisbane, Queensland, Australia.

2011

Ingles, J., Zodgekar, P., Yeates, L., Macciocca, I., Semsarian, C., Fatkin, D., Members of CSANZ Cardiac Genetic Diseases Council Writing Group, M. (2011). Guidelines for genetic testing of inherited cardiac disorders. Heart, Lung, and Circulation, 20(11), 681-687. [More Information]
Bagnall, R., Ingles, J., Semsarian, C. (2011). Molecular diagnostics of cardiomyopathies: the future is here. Circulation Cardiovascular Genetics, 4(2), 103-104. [More Information]
Gray, B., Ingles, J., Semsarian, C. (2011). Natural history of genotype positive-phenotype negative patients with hypertrophic cardiomyopathy. International Journal of Cardiology, 152(2), 258-259. [More Information]
Ingles, J., Yeates, L., Semsarian, C. (2011). The emerging role of the cardiac genetic counselor. Heart Rhythm, 8(12), 1958-1962. [More Information]

show 1 more

2010

Chiu, C., Bagnall, R., Ingles, J., Yeates, L., Kennerson, M., Donald, J., Jormakka, M., Lind, J., Semsarian, C. (2010). Mutations in Alpha-Actinin-2 Cause Hypertrophic Cardiomyopathy: A Genome-Wide Analysis. Journal of the American College of Cardiology, 55(11), 1127-1135. [More Information]

2008

Ingles, J., McGaughran, J., Vohra, J., Weintraub, R., Davis, A., Atherton, J., Semsarian, C. (2008). Establishment of an Australian National Genetic Heart Disease Registry. Heart, Lung, and Circulation, 17(6), 463-467. [More Information]
Ingles, J., Lind, J., Phongsavan, P., Semsarian, C. (2008). Psychosocial impact of specialized cardiac genetic clinics for hypertrophic cardiomyopathy. Genetics in Medicine, 10(2), 117-120. [More Information]

2007

Chiu, C., Tebo, M., Ingles, J., Yeates, L., Arthur, J., Lind, J., Semsarian, C. (2007). Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy. Journal of Molecular and Cellular Cardiology, 43, 337-343. [More Information]

2006

Chiu, C., Ingles, J., Lind, J., Semsarian, C. (2006). Mutation analysis of the natriuretic peptide precursor B (NPPB) gene in patients with hypertrophic cardiomyopathy. DNA Sequence, 17(5), 392-395. [More Information]

2005

Doolan, A., Tebo, M., Ingles, J., Nguyen, L., Tsoutsman, T., Lam, L., Chiu, C., Chung, J., Weintraub, R., Semsarian, C. (2005). Cardiac troponin I mutations in Australian families with hypertrophic cardiomyopathy: clinical, genetic and functional consequences. Journal of Molecular and Cellular Cardiology, 38(2), 387-93. [More Information]
Ingles, J., Doolan, A., Chiu, C., Seidman, J., Seidman, C., Semsarian, C. (2005). Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. Journal of Medical Genetics, 42(10), 1-6. [More Information]
Megevand, A., Ingles, J., Richmond, D., Semsarian, C. (2005). Long-term follow-up of patients with obstructive hypertrophic cardiomyopathy treated with dual-chamber pacing. American Journal of Cardiology, 95(8), 991-993. [More Information]

2004

Jayatilleke, I., Doolan, A., Ingles, J., McGuire, M., Booth, V., Richmond, D., Semsarian, C. (2004). Long-Term Follow-Up Of Implantable Cardioverter Defibrillator Therapy For Hypertrophic Cardiomyopathy. American Journal of Cardiology, 93(9), 1192-1194. [More Information]
Doolan, G., Nguyen, L., Chung, J., Ingles, J., Semsarian, C. (2004). Progression Of Left Ventricular Hypertrophy And The Angiotensin-Converting Enzyme Gene Polymorphism In Hypertrophic Cardiomyopathy. International Journal of Cardiology, 96(2), 157-163. [More Information]

Selected Grants

2020

NSW Inherited Cardiomyopathy Cohort Study, Ingles J, NSW Health/Health Statewide Biobank

2019

The Inherited Cardiomyopathy Cohort Study, Ingles J, Semsarian C, Bagnall R, Fatkin D, Kumar S, Ware J, Funke B, Ho C, National Health and Medical Research Council (NHMRC)/Clinical Trials and Cohort Studies
Non-invasive Markers to Assess QUInidine EffecT in Brugada Syndrome Study The QUIET BrS Study, Sy R, Semsarian C, Ingles J, National Heart Foundation of Australia/Vanguard Grant

2018

Clinical, genetic and psychosocial care of families with inherited heart diseases, Ingles J, National Health and Medical Research Council (NHMRC)/Career Development Fellowships
Clinical and Genetic Aspects of Hypertrophic Cardiomyopathy, Ingles J, NSW Health/Early Mid Career Fellowship

2017

Sudden Cardiac Death in the Young, Semsarian C, Bagnall R, Weintraub R, Ingles J, Fraser S, National Health and Medical Research Council (NHMRC)/Project Grants
Clinical and Genetic Predictors of Atrial fibrillation in Hypertrophic Cardiomyopathy, Ingles J, Cardiac Society of Australia & New Zealand (CSANZ)/Boehringer Ingelheim Cardiovascular Research Innovation Grant
Development of Evidence-Based Best Practice Guidelines for Sudden Cardiac Death Families, Semsarian C, Weintraub R, Ingles J, Bagnall R, National Heart Foundation of Australia/Vanguard Grant

2016

A web-based decision aid to promote informed choice about implantable cardioverter defibrillator therapy in hypertrophic cardiomyopathy, Ingles J, Semsarian C, McCaffery K, Redfern J, National Heart Foundation of Australia/Vanguard Grant
A decision aid for implantable cardioverter defibrillator therapy in hypertrophic cardiomyopathy, Ingles J, Semsarian C, McCaffery K, Redfern J, National Heart Foundation of Australia/Vanguard Grant
Clinical application of whole genome studies in patients with inherited cardiomyopathies, Semsarian C, Fatkin D, Dinger M, Bagnall R, Ingles J, Cowley M, Turner C, Colley A, Berman Y, Ronan A, NSW Ministry of Health, Office for Health and Medical Research/Genomics Collaborative Grants Program

2015

Clinical and genetic basis of childhood cardiomyopathies, Ingles J, Semsarian C, Weintraub R, Bagnall R, National Heart Foundation of Australia/Vanguard Grant
Genetic Basis of Childhood Cardiomyopathy, Semsarian C, Weintraub R, Bagnall R, Ingles J, National Health and Medical Research Council (NHMRC)/Project Grants
Increasing physical activity in individuals with hypertrophic cardiomyopathy: A pilot study utilising control theory principles, Semsarian C, Ball K, Sweeting J, Ingles J, National Heart Foundation of Australia/Vanguard Grant
Clinical, Genetic and Psychosocial Aspects of Inherited Heart Disease, Ingles J, National Heart Foundation of Australia/Future Leader Fellowship FPRx139 SCHx26098

2013

Clinical, Genetic and Psychosocial Aspects of Sudden Cardiac Death, Ingles J, National Health and Medical Research Council (NHMRC)/Project Grants

2012

Genetic testing in children at risk of genetic heart disease: optimizing clinical care, Ingles J, Semsarian C, Thrasher Research Fund/Research Support

2011

Management of families with a genetic cause of sudden cardiac death, Ingles J, National Health and Medical Research Council (NHMRC)/Early Career Fellowships

Faculty of Medicine and Health

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Associate Professor Jodie Ingles

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2018

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2011

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