Genetic Basis of Sudden Unexpected Death in Epilepsy

por Bagnall, Richard D., Crompton, Douglas E., Semsarian, Christopher
Publicado 2017

Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death

por Bagnall, Richard D, Molloy, Laura K, Kalman, Jonathan M, Semsarian, Christopher
Publicado 2014

Global MicroRNA Profiling of the Mouse Ventricles during Development of Severe Hypertrophic Cardiomyopathy and Heart Failure

por Bagnall, Richard D., Tsoutsman, Tatiana, Shephard, Rhian E., Ritchie, William, Semsarian, Christopher
Publicado 2012

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

por Lam, Lien, Ingles, Jodie, Turner, Christian, Kilborn, Michael, Bagnall, Richard D., Semsarian, Christopher
Publicado 2015

LAMP2 shines a light on cardiomyopathy in an athlete

por Martin, Sophie, Ingles, Jodie, Hunyor, Imre, Bagnall, Richard D., Puranik, Rajesh, Semsarian, Christopher
Publicado 2017

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

por Ross, Samantha Barratt, Bagnall, Richard D., Yeates, Laura, Sy, Raymond W., Semsarian, Christopher
Publicado 2018

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

por Bleakley, Lauren E., Soh, Ming S., Bagnall, Richard D., Sadleir, Lynette G., Gooley, Samuel, Semsarian, Christopher, Scheffer, Ingrid E., Berkovic, Samuel F., Reid, Christopher A.
Publicado 2020

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

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

Genetic architecture of left ventricular noncompaction in adults

por Ross, Samantha Barratt, Singer, Emma S., Driscoll, Elizabeth, Nowak, Natalie, Yeates, Laura, Puranik, Rajesh, Sy, Raymond W., Rajagopalan, Sulekha, Barratt, Alexandra, Ingles, Jodie, Bagnall, Richard D., Semsarian, Christopher
Publicado 2020

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

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

Whole-Genome Sequencing as a First-Line Genetic Test in Familial Dilated Cardiomyopathy

por Minoche, Andre E., Horvat, Claire, Johnson, Renee, Gayevskiy, Velimir, Morton, Sarah U., Drew, Alexander P., Woo, Kerhan, Statham, Aaron L., Lundie, Ben, Bagnall, Richard D., Ingles, Jodie, Semsarian, Christopher, Seidman, J.G., Seidman, Christine E., Dinger, Marcel E., Cowley, Mark J., Fatkin, Diane
Publicado 2018

Loss‐of‐function variants in K(v)11.1 cardiac channels as a biomarker for SUDEP

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

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

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

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

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

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

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

Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant

por Hoorntje, Edgar T., Burns, Charlotte, Marsili, Luisa, Corden, Ben, Parikh, Victoria N., te Meerman, Gerard J., Gray, Belinda, Adiyaman, Ahmet, Bagnall, Richard D., Barge-Schaapveld, Daniela Q.C.M., van den Berg, Maarten P., Bootsma, Marianne, Bosman, Laurens P., Correnti, Gemma, Duflou, Johan, Eppinga, Ruben N., Fatkin, Diane, Fietz, Michael, Haan, Eric, Jongbloed, Jan D.H., Hauer, Arnaud D., Lam, Lien, van Lint, Freyja H.M., Lota, Amrit, Marcelis, Carlo, McCarthy, Hugh J., van Mil, Anneke M., Oldenburg, Rogier A., Pachter, Nicholas, Planken, R. Nils, Reuter, Chloe, Semsarian, Christopher, van der Smagt, Jasper J., Thompson, Tina, Vohra, Jitendra, Volders, Paul G.A., van Waning, Jaap I., Whiffin, Nicola, van den Wijngaard, Arthur, Amin, Ahmad S., Wilde, Arthur A.M., van Woerden, Gijs, Yeates, Laura, Zentner, Dominica, Ashley, Euan A., Wheeler, Matthew T., Ware, James S., van Tintelen, J. Peter, Ingles, Jodie
Publicado 2022