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Associate Professor Jodie Ingles

Role
Program Director - Genomics and Inherited Disease / Laboratory Head - Clinical Genomics
Lab/Group
Ingles Lab

Associate Professor Jodie Ingles is Head of the Clinical Genomics Laboratory, Garvan Institute of Medical Research and Co-Director of the Garvan Genomic and Inherited Diseases Program. She is a cardiac genetic counsellor in the Department of Cardiology, Royal Prince Alfred Hospital with more than 20 years' experience working with families with inherited heart diseases. She is a Heart Foundation Future Leader Fellow, receiving the Shirley E. Freeman award for innovation in 2022. In 2018 she received an NHMRC Excellence Award for the top-ranked Career Development Fellowship application. Her team is focused on finding ways to use cardiac genomics and genetic counselling to improve diagnosis, management and care for families with inherited cardiovascular diseases.

Selected publications

2025

  • Hespe S, Singer ES, Reuter C, Murray B, Jordan E, Chowns J, Peters S, Mayers M, Gray B, Hershberger RE, Owens AT, Semsarian C, Waddell A, Asatryan B, Owens E, Thaxton C, Adduru ML, Anderson K, Brown EE, Hoffman-Andrews L, Stafford F, Bagnall RD, Bronicki L, Callewaert B, Chahal CAA, James CA, Jarinova J, Landstrom AP, McNally EM, Muiño-Mosquera M, Parikh V, Walsh R, Wayburn B, Ware JS, Parker BL, Porrello ER, Elliott DA, McNamara JW, Ingles J. Clinical Validity of Autosomal Dominant ALPK3 Loss-of-Function Variants as a Cause of Hypertrophic Cardiomyopathy. Circ Genom Precis Med. 2025 Jun;18(3):e004976. doi: 10.1161/CIRCGEN.124.004976. Epub 2025 Apr 21.

  • Butters A, Thomson K, Harrington F, Henden N, McGuire K, Byrne AB, Bryen S, McGurk KA, Leask M, Ackerman MJ, Atherton J, Bos JM, Caleshu C, Day SM, Dunn K, Hayes I, Juang J, McGaughran J, Nowak N, Parikh VN, Ronan A, Semsarian C, Tardiff JC, Tiemensma M, Merriman TR, Ware JS, Skinner JR, MacArthur DG, Siggs OM, Bagnall RD, Ingles J. A rare splice-site variant in TNNT2: the need for ancestral diversity in genomic reference data sets. Eur Heart J. 2025 Apr 15;46(15):1446-1449. doi: 10.1093/eurheartj/ehaf001.

  • Hespe S, Waddell A, Asatryan B, Owens E, Thaxton C, Adduru ML, Anderson K, Brown EE, Hoffman-Andrews L, Jordan E, Josephs K, Mayers M, Peters S, Stafford F, Bagnall RD, Bronicki L, Callewaert B, Chahal CAA, James CA, Jarinova O, Landstrom AP, McNally EM, Murray B, Muiño-Mosquera L, Parikh V, Reuter C, Walsh R, Wayburn B, Ware JS, Ingles J. Genes Associated With Hypertrophic Cardiomyopathy: A Reappraisal by the ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel. J Am Coll Cardiol. 2025 Feb 25;85(7):727-740. doi: 10.1016/j.jacc.2024.12.010.

  • Butters A, Arnott C, Sweeting J, Claggett B, Cuomo AS, Abrams D, Ashley EA, Day SM, Helms AS, Lampert R, Lin KY, Michels M, Miller EM, Olivotto I, Owens A, Parikh VN, Pereira AC, Rossano JW, Ryan TD, Saberi S, Stendahl JC, Ware JS, Atherton J, Semsarian C, Lakdawala NK, Ho CY, Ingles J. Sex-Specific Clinical and Genetic Factors Associated With Adverse Outcomes in Hypertrophic Cardiomyopathy. Circ Genom Precis Med. 2025 Feb;18(1):e004641. doi: 10.1161/CIRCGEN.124.004641. Epub 2025 Jan 24.

  • Yanes T, Courtney E, Young MA, Pearn A, McInerney-Leo A, Ingles J. Genetic counsellors: facilitating the integration of genomics into health care. Med J Aust. 2025 Feb 17;222(3):114-117. doi: 10.5694/mja2.52568. Epub 2024 Dec 20.

  • Hespe S, Gray B, Puranik R, Peters S, Sweeting J, Ingles J. The role of genetic testing in management and prognosis of individuals with inherited cardiomyopathies. Trends Cardiovasc Med. 2025 Jan;35(1):34-44. doi: 10.1016/j.tcm.2024.06.002. Epub 2024 Jul 14.

2024

  • Hespe S, Waddell A, Asatryan B, Owens E, Thaxton C, Adduru ML, Anderson K, Brown EE, Hoffman-Andrews L, Jordan E, Josephs K, Mayers M, Peters S, Stafford F, Bagnall RD, Bronicki L, Callewaert B, Chahal CAA, James CA, Jarinova O, Landstrom AP, McNally EM, Murray B, Muiño-Mosquera L, Parikh V, Reuter C, Walsh R, Wayburn B, Ware JS, Ingles J. ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel: Reappraisal of Genes associated with Hypertrophic Cardiomyopathy. medRxiv [Preprint]. 2024 Jul 31:2024.07.29.24311195. doi: 10.1101/2024.07.29.24311195.

  • Hespe S, Ingles J. Expanding the Phenotypic Spectrum of Desminopathy. JACC Clin Electrophysiol. 2024 Jun;10(6):1191-1193. doi: 10.1016/j.jacep.2024.03.039.

  • van den Heuvel L, Do J, Yeates L, Burns C, Semsarian C, Ingles J. Sudden cardiac death in the young: A qualitative study of experiences of family members with cardiogenetic evaluation. J Genet Couns. 2024 Apr;33(2):361-369. doi: 10.1002/jgc4.1733. Epub 2023 May 29.

2023

  • Hespe S, Isbister JC, Duflou J, Puranik R, Bagnall RD, Semsarian C, Gray B, Ingles J. A case series of patients with filamin-C truncating variants attending a specialized cardiac genetic clinic. Eur Heart J Case Rep. 2023 Nov 17;7(12):ytad572. doi: 10.1093/ehjcr/ytad572. eCollection 2023 Dec.

  • Butters A, Blanch B, Kemp-Casey A, Do J, Yeates L, Leslie F, Semsarian C, Nedkoff L, Briffa T, Ingles J, Sweeting J. The Australian Genetic Heart Disease Registry: Protocol for a Data Linkage Study. JMIR Res Protoc. 2023 Sep 20;12:e48636. doi: 10.2196/48636.

  • Marijon E, Narayanan K, Smith K, Barra S, Basso C, Blom MT, Crotti L, D'Avila A, Deo R, Dumas F, Dzudie A, Farrugia A, Greeley K, Hindricks G, Hua W, Ingles J, Iwami T, Junttila J, Koster RW, Le Polain De Waroux JB, Olasveengen TM, Ong MEH, Papadakis M, Sasson C, Shin SD, Tse HF, Tseng Z, Van Der Werf C, Folke F, Albert CM, Winkel BG. The Lancet Commission to reduce the global burden of sudden cardiac death: a call for multidisciplinary action. Lancet. 2023 Sep 9;402(10405):883-936. doi: 10.1016/S0140-6736(23)00875-9. Epub 2023 Aug 27.

  • Arbelo E, Protonotarios A, Gimeno JR, Arbustini E, Barriales-Villa R, Basso C, Bezzina CR, Biagini E, Blom NA, de Boer RA, De Winter T, Elliott PM, Flather M, Garcia-Pavia P, Haugaa KH, Ingles J, Jurcut RO, Klaassen S, Limongelli G, Loeys B, Mogensen J, Olivotto I, Pantazis A, Sharma S, Van Tintelen JP, Ware JS, Kaski JP; ESC Scientific Document Group. 2023 ESC Guidelines for the management of cardiomyopathies. Eur Heart J. 2023 Oct 1;44(37):3503-3626. doi: 10.1093/eurheartj/ehad194.

  • Leslie F, Avis SR, Bagnall RD, Bendall J, Briffa T, Brouwer I, Butters A, Figtree GA, La Gerche A, Gray B, Nedkoff L, Page G, Paratz E, Semsarian C, Sy RW, du Toit-Prinsloo L, Yeates L, Sweeting J, Ingles J. The New South Wales Sudden Cardiac Arrest Registry: A Data Linkage Cohort Study. Heart Lung Circ. 2023 Sep;32(9):1069-1075. doi: 10.1016/j.hlc.2023.06.573. Epub 2023 Jul 5.

  • Ingles J, MacArthur DG. The moral and practical urgency of increasing diversity in genomics. Eur Heart J. 2023 Dec 21;44(48):5157-5159. doi: 10.1093/eurheartj/ehad365.

2022

  • Stafford F, Krishnan N, Richardson E, Butters A, Hespe S, Burns C, Gray B, Medi C, Nowak N, Isbister JC, Raju H, Richmond D, Ryan MP, Singer ES, Sy RW, Yeates L, Bagnall RD, Semsarian C, Ingles J. The role of genetic testing in diagnosis and care of inherited cardiac conditions in a specialised multidisciplinary clinic. Genome Med. 2022 Dec 28;14(1):145. doi: 10.1186/s13073-022-01149-0.

  • van den Heuvel LM, Sarina T, Sweeting J, Yeates L, Bates K, Spinks C, O'Donnell C, Sears SF, McGeechan K, Semsarian C, Ingles J. 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. 2022 Feb 8;3(2):143-151. doi: 10.1016/j.hroo.2022.02.003. eCollection 2022 Apr.

  • Krishnan N, Ingles J. The Need for Inclusive Genomic Research. Circ Genom Precis Med. 2022 Apr;15(2):e003736. doi: 10.1161/CIRCGEN.122.003736. Epub 2022 Mar 21.

  • Yeates L, McDonald K, Burns C, Semsarian C, Carter S, Ingles J. Decision-making and experiences of preimplantation genetic diagnosis in inherited heart diseases: a qualitative study. Eur J Hum Genet. 2022 Feb;30(2):187-193. doi: 10.1038/s41431-021-00963-1. Epub 2021 Sep 21.

2021

  • Butters A, Lakdawala NK, Ingles J. Sex Differences in Hypertrophic Cardiomyopathy: Interaction With Genetics and Environment. Curr Heart Fail Rep. 2021 Oct;18(5):264-273. doi: 10.1007/s11897-021-00526-x. Epub 2021 Sep 3.

  • Butters A, Arnott C, Sweeting J, Winkel BG, Semsarian C, Ingles J. Sex Disparities in Sudden Cardiac Death. Circ Arrhythm Electrophysiol. 2021 Aug;14(8):e009834. doi: 10.1161/CIRCEP.121.009834. Epub 2021 Aug 16.

  • van den Heuvel LM, Do J, Yeates L, MacLeod H, James CA, Duflou J, Skinner JR, Semsarian C, van Tintelen JP, Ingles J. Global approaches to cardiogenetic evaluation after sudden cardiac death in the young: A survey among health care professionals. Heart Rhythm. 2021 Oct;18(10):1637-1644. doi: 10.1016/j.hrthm.2021.03.037. Epub 2021 Mar 27.

  • Butters A, Semsarian CR, Bagnall RD, Yeates L, Stafford F, Burns C, Semsarian C, Ingles J. Clinical Profile and Health Disparities in a Multiethnic Cohort of Patients With Hypertrophic Cardiomyopathy. Circ Heart Fail. 2021 Mar;14(3):e007537. doi: 10.1161/CIRCHEARTFAILURE.120.007537. Epub 2021 Mar 16.

  • Stafford F, Thomson K, Butters A, Ingles J. Hypertrophic Cardiomyopathy: Genetic Testing and Risk Stratification. Curr Cardiol Rep. 2021 Jan 12;23(2):9. doi: 10.1007/s11886-020-01437-4.

Awards

  • 2022Shirley E Freeman Innovation Award - National Heart Foundation (top-ranked female Fellowship)
  • 2019Fellow of the Cardiac Society of Australia and New Zealand (FCSANZ)
  • 2019Fellow of the Heart Rhythm Society (FHRS)
  • 2019NHMRC Research Excellence Awards - Top-ranked CDF Level 1 - Clinical category
  • 2017Cardiovascular Research Network (CVRN) Rising Star Ministerial Award
  • 2012Peter Bancroft Prize for Research Work - Sydney Medical School - University of Sydney
  • 2012Rita and John Cornforth Medal for PhD achievement - University of Sydney

Selected publications

See all publications
  • 2025
    Journal of the American Heart Association10.1161/JAHA.125.041298

    Yield on Reinterpretation of Genetic Variants in Pediatric Cardiomyopathy.

    Takanori Suzuki, Robert Lesurf, Rajadurai Akilen, Xiaoqiao Xu, Eva Maria Batke, Vinay J Rao, Rebekah Jobling, Laura Zahavich, Natasha Henden, Jodie Ingles, Edgardo Alania Torres, Keiichi Hirono, Nathalie Roux-Buisson, Perundurai S Dhandapany, Christoph Sandmann, Seema Mital
  • 2025
    Journal of Genetic Counseling10.1002/jgc4.70113

    Well-being and self-care strategies for cardiovascular genetic counselors: A qualitative study.

    Laura Yeates, Lucas A Mitchell, Ivan Macciocca, Helen Mountain, Mary-Anne Young, Colleen Caleshu, Alison McEwen, Jodie Ingles
  • 2025
    Circulation10.1161/CIRCULATIONAHA.125.073919

    Prognostic Role of Myocarditis-Like Episodes and Their Treatment in Patients With Pathogenic Desmoplakin Variants.

    Alessio Gasperetti, Steven A Muller, Giovanni Peretto, Babken Asatryan, Alexandros Protonotarios, Mikael Laredo, Pierre-Yves Tarlet, Petros Syrris, Richard T Carrick, Brittney Murray, Crystal Tichnell, Paul Scheel, Marta Gigli, Sing-Chien Yap, Kalliopi Pilichou, Cristina Basso, Kristen Medo, Max Jason, Valentina A Rossi, Ardan M Saguner, Firat Duru, Dominic Abrams, Julia Cadrin-Tourigny, Mattia Targetti, Maurizio Pieroni, Maddalena Graziosi, Elena Biagini, Philippe Charron, Moniek Cox, Michela Casella, Claudio Tondo, James S Ware, Sanjay K Prasad, Leonardo Calò, Eric Smith, Jodie Ingles, Harikrishna Tandri, Flavie Ader, Stacey Peters, Dominica Zentner, Jeremy Russo, Silvia Ravaro, Lia Crotti, Svenn Dittmann, Eric Shulze-Bahr, Eric D Carruth, Vikki A Krysov, Victoria N Parikh, Giulio Conte, Arthur Wilde, J Peter van Tintelen, Anneline S J M Te Riele, Gianfranco Sinagra, Luisa Mestroni, Matthew Taylor, Marco Merlo, Luigi Adamo, Hugh Calkins, Barbara Bauce, Elena Arbelo, Perry M Elliott, Estelle Gandjbakhch, Neal Lakdawala, Adam Helms, Cynthia A James, Nisha A Gilotra
  • 2025
    European Heart Journal10.1093/eurheartj/ehaf380

    Titin-related familial dilated cardiomyopathy: factors associated with disease onset.

    Renee Johnson, Robert A Fletcher, Stacey Peters, Monique Ohanian, Magdalena Soka, Andrei Smolnikov, Katherine E Abihider, Michael J Ackerman, Flavie Ader, Mohammed M Akhtar, Ahmad S Amin, Euan A Ashley, John J Atherton, Rachel Austin, Annette F Baas, Richard D Bagnall, Samantha Barratt Ross, Jean-Louis Blouin, Emily E Brown, Henning Bundgaard, Douglas Cannie, Przemyslaw Chmielewski, Gemma Correnti, Maria Generosa Crespo-Leiro, Matteo Dal Ferro, Lisa M Dellefave-Castillo, Fernando Dominguez, Dennis Dooijes, Anne M Dybro, Youssef Ed Demri, Mohamed El Hachmi, Luis Escobar-Lopez, Sarah Jajesnica Foye, Maria Franaszczyk, Marta Gigli, Esther Gonzalez Lopez, Adeline Goudal, Sharon Graw, Michel Guipponi, Eric Haan, Jan Haas, Daniel J Hammersley, Frederikke G Hansen, Christopher S Hayward, Thomas Morris Hey, Stephane Heymans, Carolyn Y Ho, Arjan C Houweling, Jodie Ingles, Angela Ingrey, Andrew Jabbour, Paul A James, Joeri A Jansweijer, Jan D H Jongbloed, Anne M Keogh, Jose M Larrañaga-Moreira, Ronald H Lekanne Deprez, Ivan Macciocca, Peter S Macdonald, Nicolas Mansencal, Julia Mansour, Cristina Martinez-Veira, Barbara McDonough, Julie McGaughran, Kristen Medo, Marco Merlo, Ewa Michalak, Lorenzo Monserrat, Helen Mountain, Steven A Muller, Anne M Murphy, Brittney Murray, Emily C Oates, Elizabeth Ormondroyd, Nicholas Pachter, Alessia Paldino, Aurélien Palmyre, Naveen L Pereira, Kermshlise C Picard, Nicola Poplawski, Sanjay Prasad, Julie Proukhnitzky, Jean-Francois Pruny, Patricia Reant, Pascale Richard, Anne Ronan, Farbod Sedaghat-Hamedani, Christopher Semsarian, Garrett Storm, Sophie Stroeks, Petros Syrris, Matthew R G Taylor, Kate Thomson, Tina Thompson, J Peter van Tintelen, Christoffer Rasmus Vissing, Kathryn E Waddell-Smith, Mathew Wallis, Dominica Zentner, , Clare Arnott, Ali J Marian, Jaewon Oh, Siv Fokstuen, Cynthia A James, Roberto Barriales-Villa, Benjamin Meder, Karim Wahbi, John R Giudicessi, Victoria N Parikh, James S Ware, Nicolas Piriou, Caroline Rooryck, Neal K Lakdawala, Luisa Mestroni, Gianfranco Sinagra, Perry M Elliott, Hugh Watkins, Elizabeth M McNally, Philippe Charron, Karin Y van Spaendonck-Zwarts, Pablo Garcia-Pavia, Maria Luisa Peña-Peña, Jens Mogensen, Alex Hoerby Christensen, Zofia T Bilińska, Torsten B Rasmussen, Jonathan G Seidman, Christine E Seidman, Anneline S J M Te Riele, Job A J Verdonschot, Yigal M Pinto, Imke Christiaans, Diane Fatkin
  • 2025
    Resuscitation Plus10.1016/j.resplu.2025.101047

    Cardiac arrest while using the toilet: not uncommon and associated with adverse resuscitation profile.

    Elizabeth D Paratz, Carl Johann Hansen, Andre La Gerche, Dion Stub, Ziad Nehme, Ashanti Dantanarayana, Kelila Freedman, Andreas Pflaumer, Jodie Ingles, Bo Gregers Winkel, Jacob Tfelt-Hansen
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