2023

• Rayani, K., Davies, B., Cheung, M., Comber, D., Roberts, J., Tadros, R., Green, M., Healey, J., Simpson, C., Sanatani, S., Bagnall, R., et al (2023). Identification and in-silico characterization of splice-site variants from a large cardiogenetic national registry. European Journal of Human Genetics, 31(5), 512-520. [More Information]
• Bagnall, R., Perucca, P. (2023). ILAE Genetic Literacy Series: Postmortem Genetic Testing in Sudden Unexpected Death in Epilepsy. Epileptic Disorders, 25(4), 472-479. [More Information]
• Leslie, F., Avis, S., Bagnall, R., Bendall, J., Briffa, T., Brouwer, I., Butters, A., Figtree, G., La Gerche, A., Gray, B., Semsarian, C., Sy, R., Yeates, L., et al (2023). The New South Wales Sudden Cardiac Arrest Registry: A Data Linkage Cohort Study. Heart, Lung, and Circulation, 32(9), 1069-1075. [More Information]
• Hoorntje, E., Burns, C., Marsili, L., Corden, B., Parikh, V., Te Meerman, G., Gray, B., Adiyaman, A., Bagnall, R., Barge-Schaapveld, D., et al (2023). Variant Location Is a Novel Risk Factor for Individuals with Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant. Circulation. Genomic and Precision Medicine, 16(1), E003672. [More Information]

2022

• 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]
• 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]
• Soh, M., Bagnall, R., Semsarian, C., Scheffer, I., Berkovic, S., Reid, C. (2022). Rare sudden unexpected death in epilepsy SCN5A variants cause changes in channel function implicating cardiac arrhythmia as a cause of death. Epilepsia, 63(6), e57-e62. [More Information]
• Ellingford, J., Ahn, J., Bagnall, R., Baralle, D., Barton, S., Campbell, C., Downes, K., Ellard, S., Duff-Farrier, C., FitzPatrick, D., et al (2022). Recommendations for clinical interpretation of variants found in non-coding regions of the genome. Genome Medicine, 14(1). [More Information]
• Singer, E., Bagnall, R. (2022). Splicing Functional Assays Into the Genetic Testing Pipeline. Circulation, 15(6), e003949. [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]

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]
• 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]
• 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]
• Soh, M., Bagnall, R., Bennett, M., Bleakley, L., Mohamed Syazwan, E., Phillips, A., Chiam, M., McKenzie, C., Hildebrand, M., Crompton, D., Semsarian, C., et al (2021). Loss-of-function variants in Kv11.1 cardiac channels as a biomarker for SUDEP. Annals of Clinical and Translational Neurology, 8(7), 1422-1432. [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]
• 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]

2020

• Bleakley, L., Soh, M., Bagnall, R., Sadleir, L., Gooley, S., Semsarian, C., Scheffer, I., Berkovic, S., Reid, C. (2020). Are Variants Causing Cardiac Arrhythmia Risk Factors in Sudden Unexpected Death in Epilepsy? Frontiers in Neurology, 11, 1-7. [More Information]
• Mattivi, C., Bos, J., Bagnall, R., Nowak, N., Giudicessi, J., Ommen, S., Semsarian, C., Ackerman, M. (2020). Clinical utility of a phenotype-enhanced myh7- specific variant classification framework in hypertrophic cardiomyopathy genetic testing. Circulation. Genomic and Precision Medicine, 13(5), 453-459. [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]
• Clemens, D., Gray, B., Bagnall, R., Tester, D., Giudicessi, J., Maleszewski, J., Crotti, L., Schwartz, P., Matthews, E., Semsarian, C., et al (2020). Prevalence and Phenotypic Correlations of Calmodulinopathy-Causative CALM1-3 Variants Detected in a Multicenter Molecular Autopsy Cohort of Sudden Unexplained Death Victims. Circulation. Genomic and Precision Medicine, 13(6), 716-718. [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]
• Bagnall, R., Singer, E., Tfelt-Hansen, J. (2020). Sudden Cardiac Death in the Young. Heart, Lung, and Circulation, 29(4), 498-504. [More Information]
• Clemens, D., Gray, B., Bagnall, R., Tester, D., Dotzler, S., Giudicessi, J., Matthews, E., Semsarian, C., Behr, E., Ackerman, M. (2020). Triadin Knockout Syndrome is Absent in a Multi-Center Molecular Autopsy Cohort of Sudden Infant Death Syndrome and Sudden Unexplained Death in the Young and is Extremely Rare in the General Population. Circulation. Genomic and Precision Medicine, 13(2), 52-58. [More Information]

2019

• 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., 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]
• 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]
• 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]
• 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]

2018

• 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]
• Ingles, J., Bagnall, R., Semsarian, C. (2018). Genetic Testing for Cardiomyopathies in Clinical Practice. Heart Failure Clinics, 14(2), 129-137. [More Information]
• Ross, S., Bagnall, R., Yeates, L., Sy, R., Semsarian, C. (2018). Holt-Oram syndrome in two families diagnosed with left ventricular noncompaction and conduction disease. Heart Rhythm Case Reports, 4(4), 146-151. [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]

2017

• 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]
• 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]
• Bagnall, R., Crompton, D., Semsarian, C. (2017). Genetic Basis of Sudden Unexpected Death in Epilepsy. Frontiers in Neurology, 8(348), 1-9. [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]
• 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]
• Ross, S., Fraser, S., Bagnall, R., Semsarian, C. (2017). Peripheral blood derived induced pluripotent stem cells (iPSCs) from a female with familial hypertrophic cardiomyopathy. Stem Cell Research, 20, 76-79. [More Information]
• Bagnall, R., Semsarian, C. (2017). Role of the molecular autopsy in the investigation of sudden cardiac death. Progress in Pediatric Cardiology, 45, 17-23. [More Information]

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]
• Bagnall, R., Crompton, D., Petrovski, S., Lam, L., Cutmore, C., Garry, S., Sadleir, L., Dibbens, L., Cairns, A., Kivity, S., Duflou, J., Semsarian, C., et al (2016). Exome-based analysis of cardiac arrhythmia, respiratory control and epilepsy genes in sudden unexpected death in epilepsy. Annals of Neurology, 79(4), 522-534. [More Information]
• Goldman, A., Behr, E., Semsarian, C., Bagnall, R., Sisodiya, S., Cooper, P. (2016). Sudden unexpected death in epilepsy genetics: Molecular diagnostics and prevention. Epilepsia, 57(Suppl 1), 17-25. [More Information]
• Semsarian, C., Bagnall, R. (2016). The authors reply: Sudden Cardiac Death in Children and Young Adults. New England Journal of Medicine, 375(13), 1301-1302. [More Information]

2015

• Padang, R., Bagnall, R., Tsoutsman, T., Bannon, P., Semsarian, C. (2015). Comparative transcriptome profiling in human bicuspid aortic valve disease using RNA sequencing. Physiological Genomics, 47(3), 75-87. [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]
• 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]

2014

• 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., Das K, J., Duflou, J., Semsarian, C. (2014). Exome analysis-based molecular autopsy in cases of sudden unexplained death in the young. Heart Rhythm, 11(4), 655-662. [More Information]
• Bagnall, R., Molloy, L., Kalman, J., Semsarian, C. (2014). Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death. BMC Medical Genetics, 15, 1-9. [More Information]
• Bagnall, R., Crompton, D., Cutmore, C., Regan, B., Berkovic, S., Scheffer, I., Semsarian, C. (2014). Genetic analysis of PHOX2B in sudden unexpected death in epilepsy cases. Neurology, 83(11), 1018-1021. [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.

2013

• Figtree, G., Bagnall, R., Abdulla, I., Buchholz, S., Karimigalougahi, K., Yan, W., Tan, T., Neil, C., Horowitz, J., Semsarian, C., Ward, M. (2013). No association of G-protein-coupled receptor kinase 5 or β-adrenergic receptor polymorphisms with Takotsubo cardiomyopathy in a large Australian cohort. European Journal of Heart Failure, 15(7), 730-733. [More Information]
• Evans, A., Bagnall, R., Duflou, J., Semsarian, C. (2013). Postmortem review and genetic analysis in sudden infant death syndrome: an 11-year review. Human Pathology, 44(9), 1730-1736. [More Information]

2012

• Padang, R., Bagnall, R., Semsarian, C. (2012). Genetic Basis of Familial Valvular Heart Disease. Circulation: Cardiovascular Genetics, 5(5), 569-580. [More Information]
• Bagnall, R., Tsoutsman, T., Shephard, R., Ritchie, W., Semsarian, C. (2012). Global MicroRNA Profiling of the Mouse Ventricles during Development of Severe Hypertrophic Cardiomyopathy and Heart Failure. PloS One, 7(9), 1-8. [More Information]
• Padang, R., Bagnall, R., Richmond, D., Bannon, P., Semsarian, C. (2012). Rare non-synonymous variations in the transcriptional activation domains of GATA5 in bicuspid aortic valve disease. Journal of Molecular and Cellular Cardiology, 53(2), 277-281. [More Information]

2011

• Kelly, M., Bagnall, R., Peverill, R., Donelan, L., Corben, L., Delatycki, M., Semsarian, C. (2011). A polymorphic miR-155 binding site in AGTR1 is associated with cardiac hypertrophy in Friedreich ataxia. Journal of Molecular and Cellular Cardiology, 51(5), 848-854. [More Information]
• Tu, E., Waterhouse, L., Duflou, J., Bagnall, R., Semsarian, C. (2011). Genetic Analysis of Hyperpolarization-Activated Cyclic Nucleotide-Gated Cation Channels in Sudden Unexpected in Epilepsy Cases. Brain Pathology, 21(6), 692-698. [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]

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]
• Tu, E., Bagnall, R., Duflou, J., Lynch, M., Twigg, S., Semsarian, C. (2010). Post-mortem pathologic and genetic studies in "dead in bed syndrome" cases in type 1 diabetes mellitus. Human Pathology, 41(3), 392-400. [More Information]
• Tu, E., Bagnall, R., Duflou, J., Semsarian, C. (2010). Post-Mortem Review and Genetic Analysis of Sudden Unexpected Death in Epilepsy (SUDEP) Cases. Brain Pathology, 21(2), 201-208. [More Information]

2008

• Tsoutsman, T., Bagnall, R., Semsarian, C. (2008). Impact of multiple gene mutations in determining the severity of cardiomyopathy and heart failure. Clinical and Experimental Pharmacology and Physiology, 35(11), 1349-1357. [More Information]