Genetic Basis of Sudden Unexpected Death in Epilepsy

by Richard D. Bagnall, Richard D. Bagnall, Douglas E. Crompton, Douglas E. Crompton, Christopher Semsarian, Christopher Semsarian, Christopher Semsarian
Published 2017-07-01

Peripheral blood derived induced pluripotent stem cells (iPSCs) from a female with familial hypertrophic cardiomyopathy

by Samantha Barratt Ross, Stuart T. Fraser, Richard D. Bagnall, Christopher Semsarian
Published 2017-04-01

Global microRNA profiling of the mouse ventricles during development of severe hypertrophic cardiomyopathy and heart failure.

by Richard D Bagnall, Tatiana Tsoutsman, Rhian E Shephard, William Ritchie, Christopher Semsarian
Published 2012-01-01

Are Variants Causing Cardiac Arrhythmia Risk Factors in Sudden Unexpected Death in Epilepsy?

by Lauren E. Bleakley, Ming S. Soh, Richard D. Bagnall, Richard D. Bagnall, Lynette G. Sadleir, Samuel Gooley, Christopher Semsarian, Christopher Semsarian, Ingrid E. Scheffer, Ingrid E. Scheffer, Ingrid E. Scheffer, Samuel F. Berkovic, Christopher A. Reid
Published 2020-09-01

Generation of an induced pluripotent stem cell line from a patient with conduction disease and recurrent ventricular fibrillation with a sodium voltage-gated channel alpha subunit...

by Serena Li, Stuart Fraser, Ginell Ranpura, Seakcheng Lim, Emma S. Singer, Jeremy D.K. Parker, Joshua Crowe, Richard D. Bagnall, Zachary Laksman, Christopher Semsarian
Published 2023-09-01

Relations between right ventricular morphology and clinical, electrical and genetic parameters in Brugada Syndrome.

by Belinda Gray, Ganesh Kumar Gnanappa, Richard D Bagnall, Giuseppe Femia, Laura Yeates, Jodie Ingles, Charlotte Burns, Rajesh Puranik, Stuart M Grieve, Christopher Semsarian, Raymond W Sy
Published 2018-01-01

LAMP2 shines a light on cardiomyopathy in an athlete

by Sophie Martin, MBBS, Jodie Ingles, BBiomedSci, PhD, MPH, Imre Hunyor, MBBS, DPhil, Richard D. Bagnall, BSc, PhD, Rajesh Puranik, MBBS, PhD, Christopher Semsarian, MBBS, PhD, MPH, FHRS
Published 2017-03-01

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

by Samantha Barratt Ross, BMedSci, Richard D. Bagnall, BS, PhD, Laura Yeates, BS, GradDipGenCouns, Raymond W. Sy, MBBS, PhD, FHRS, Christopher Semsarian, MBBS, PhD, MPH, FHRS
Published 2018-04-01

Exome sequencing identifies a novel mutation in the MYH6 gene in a family with early-onset sinus node dysfunction, ventricular arrhythmias, and cardiac arrest

by Lien Lam, BSc, PhD, Jodie Ingles, BBiomed Sci, PhD, MPH, Christian Turner, MBBS, Michael Kilborn, MBBS, PhD, Richard D. Bagnall, BSc, PhD, Christopher Semsarian, MBBS, PhD, MPH, FHRS
Published 2015-05-01

The burden of splice-disrupting variants in inherited heart disease and unexplained sudden cardiac death

by Emma S. Singer, Joshua Crowe, Mira Holliday, Julia C. Isbister, Sean Lal, Natalie Nowak, Laura Yeates, Charlotte Burns, Sulekha Rajagopalan, Ivan Macciocca, Ingrid King, Julie Wacker, Jodie Ingles, Robert G. Weintraub, Christopher Semsarian, Richard D. Bagnall
Published 2023-10-01

Loss‐of‐function variants in Kv11.1 cardiac channels as a biomarker for SUDEP

by Ming S. Soh, Richard D. Bagnall, Mark F. Bennett, Lauren E. Bleakley, Erlina S. Mohamed Syazwan, A. Marie Phillips, Mathew D. F. Chiam, Chaseley E. McKenzie, Michael Hildebrand, Douglas Crompton, Melanie Bahlo, Christopher Semsarian, Ingrid E. Scheffer, Samuel F. Berkovic, Christopher A. Reid
Published 2021-07-01

The role of genetic testing in diagnosis and care of inherited cardiac conditions in a specialised multidisciplinary clinic

by Fergus Stafford, Neesha Krishnan, Ebony Richardson, Alexandra Butters, Sophie Hespe, Charlotte Burns, Belinda Gray, Caroline Medi, Natalie Nowak, Julia C. Isbister, Hariharan Raju, David Richmond, Mark P. Ryan, Emma S. Singer, Raymond W. Sy, Laura Yeates, Richard D. Bagnall, Christopher Semsarian, Jodie Ingles
Published 2022-12-01

Recommendations for clinical interpretation of variants found in non-coding regions of the genome

by Jamie M. Ellingford, Joo Wook Ahn, Richard D. Bagnall, Diana Baralle, Stephanie Barton, Chris Campbell, Kate Downes, Sian Ellard, Celia Duff-Farrier, David R. FitzPatrick, John M. Greally, Jodie Ingles, Neesha Krishnan, Jenny Lord, Hilary C. Martin, William G. Newman, Anne O’Donnell-Luria, Simon C. Ramsden, Heidi L. Rehm, Ebony Richardson, Moriel Singer-Berk, Jenny C. Taylor, Maggie Williams, Jordan C. Wood, Caroline F. Wright, Steven M. Harrison, Nicola Whiffin
Published 2022-07-01

Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy

by Robert Lesurf, Abdelrahman Said, Oyediran Akinrinade, Jeroen Breckpot, Kathleen Delfosse, Ting Liu, Roderick Yao, Gabrielle Persad, Fintan McKenna, Ramil R. Noche, Winona Oliveros, Kaia Mattioli, Shreya Shah, Anastasia Miron, Qian Yang, Guoliang Meng, Michelle Chan Seng Yue, Wilson W. L. Sung, Bhooma Thiruvahindrapuram, Jane Lougheed, Erwin Oechslin, Tapas Mondal, Lynn Bergin, John Smythe, Shashank Jayappa, Vinay J. Rao, Jayaprakash Shenthar, Perundurai S. Dhandapany, Christopher Semsarian, Robert G. Weintraub, Richard D. Bagnall, Jodie Ingles, Genomics England Research Consortium, Marta Melé, Philipp G. Maass, James Ellis, Stephen W. Scherer, Seema Mital
Published 2022-03-01

A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship

by Rachel Austin, Jaye S. Brown, Sarah Casauria, Evanthia O. Madelli, Tessa Mattiske, Tiffany Boughtwood, Alejandro Metke, Andrew Davis, Ari E. Horton, David Winlaw, Debjani Das, Magdalena Soka, Eleni Giannoulatou, Emma M. Rath, Eric Haan, Gillian M. Blue, Jitendra Vohra, John J. Atherton, Karin van Spaendonck-Zwarts, Kathy Cox, Leslie Burnett, Mathew Wallis, Matilda Haas, Michael C.J. Quinn, Nicholas Pachter, Nicola K. Poplawski, Zornitza Stark, Richard D. Bagnall, Robert G. Weintraub, Sarah-Jane Pantaleo, Sebastian Lunke, Paul De Fazio, Tina Thompson, Paul James, Yuchen Chang, Diane Fatkin, Ivan Macciocca, Jodie Ingles, Sally L. Dunwoodie, Chris Semsarian, Julie McGaughran, Lesley Ades, Annabel Enriquez, Alison McLean, Renee Smyth, Dimithu Alankarage, Diane Fatkin, James McNamara, Magdalena Soka, Morgan almog, Vanessa Fear, Caroline Medi, Zornitza Stark, Mohammad Al-Shinnag, Miriam Fine, Alejandro Metke, Raymond Sy, John J. Atherton, Keri Finlay, Di Milnes, Dotti Tang, Rachel Austin, Denisse Garza, Michael Milward, Jessica Taylor, Richard D. Bagnall, Eleni Giannoulatou, Ansley Morrish, Shelby Taylor, Chris Barnett, Laura Gongolidis, Jim Morwood, Michel Tchan, Gillian M. Blue, Belinda Gray, Helen Mountain, Tina Thompson, Simon Bodek, Cassie Greer, David Mowat, Jordan Thorpe, Kirsten Boggs, Eric Haan, Chai-Ann Ng, Alison Trainer, Michael Bogwitz, Mathilda Haas, Natalie Nowak, Gunjan Trivedi, Tiffany Boughtwood, Bernadette Hanna, Noelia Nunez Martinez, Giulia Valente, Alessandra Bray, Richard Harvey, Monique Ohanian, Karin van Spaendonck-Zwarts, Marie-Jo Brion, Janette Hayward, Sinead O’Sullivan, Jamie Vandenberg, Jaye Brown, Carmen Herrera, Angela Overkov, Kunal Verma, Rob Bryson Richardson, Adam Hill, Nicholas Pachter, Miranda Vidgen, Leslie Burnett, Georgie Hollingsworth, Chirag Patel, Jitendra Vohra, Charlotte Burns, Georgina Hollway, Mark Perrin, Kathryn Waddel-Smith, Michelle Cao, Ari E. Horton, Matthew Perry, Mathew Wallis, Will Carr, Denise Howting, Andreas Pflaumer, Robert G. Weintraub, Sarah Casauria, Jodie Ingles, Peta Phillips, Meredith Wilson, Heather Chalinor, Joanne Isbister, Thuan Phuong, David Winlaw, Yuchen Chang, Matilda Jackson, Rachel Pope-Couston, Lisa Worgan, Gavin Chapman, Paul James, Nicola K. Poplawski, Linda Wornham, Theosodia Charitou, Sarah Jane-Pantaleo, Preeti Punni, Kathy Wu, Belinda Chong, Renee Johnson, Michael C.J. Quinn, Laura Yeates, Felicity Collins, Andrew Kelly, Michael Quinn, Dominica Zentner, Gemma Correnti, Sarah King-Smith, Sulekha Rajagopalan, Kathy Cox, Edwin Kirk, Hariharan Raju, Fiona Cunningham, Sarah Kummerfeld, Emma M. Rath, Debjani Das, Timo Lassman, Matthew Regan, Jason Davis, Jonathon Lipton, Jonathan Rogers, Andrew Davis, Sebastian Lunke, Mark Ryan, Paul De Fazio, Ivan Macciocca, Sarah Sandaradura, Michelle de Silva, Paul MacIntyre, Nicole Schonrock, Nicola Den Elzen, Evanthia O. Madelli, Paul Scuffham, Sophie Devery, Amali Mallawaarachchi, Chris Semsarian, Julia Dobbins, Julia Mansour, Isabella Sherburn, Sally L. Dunwoodie, Ellenore Martin, Mary-Clare Sherlock, Nathan Dwyer, Jacob Mathew, Emma Singer, Stefanie Elbracht-Leong, Tessa Mattiske, Carla Smerdon, David Elliott, Julie McGaughran, Janine Smith
Published 2024-01-01