Zobrazeno 1 - 10
of 161
pro vyhledávání: '"Richard D. Bagnall"'
Autor:
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
Publikováno v:
npj Genomic Medicine, Vol 8, Iss 1, Pp 1-7 (2023)
Abstract There is an incomplete understanding of the burden of splice-disrupting variants in definitively associated inherited heart disease genes and whether these genes can amplify from blood RNA to support functional confirmation of splicing outco
Externí odkaz:
https://doaj.org/article/8fed1ba26d23493d97359693ba5f0785
Autor:
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, James McNamara, Morgan almog, Vanessa Fear, Caroline Medi, Mohammad Al-Shinnag, Miriam Fine, Raymond Sy, Keri Finlay, Di Milnes, Dotti Tang, Denisse Garza, Michael Milward, Jessica Taylor, Ansley Morrish, Shelby Taylor, Chris Barnett, Laura Gongolidis, Jim Morwood, Michel Tchan, Belinda Gray, Helen Mountain, Simon Bodek, Cassie Greer, David Mowat, Jordan Thorpe, Kirsten Boggs, Chai-Ann Ng, Alison Trainer, Michael Bogwitz, Mathilda Haas, Natalie Nowak, Gunjan Trivedi, Bernadette Hanna, Noelia Nunez Martinez, Giulia Valente, Alessandra Bray, Richard Harvey, Monique Ohanian, Marie-Jo Brion, Janette Hayward, Sinead O’Sullivan, Jamie Vandenberg, Jaye Brown, Carmen Herrera, Angela Overkov, Kunal Verma, Rob Bryson Richardson, Adam Hill, Miranda Vidgen, Georgie Hollingsworth, Chirag Patel, Charlotte Burns, Georgina Hollway, Mark Perrin, Kathryn Waddel-Smith, Michelle Cao, Matthew Perry, Will Carr, Denise Howting, Andreas Pflaumer, Peta Phillips, Meredith Wilson, Heather Chalinor, Joanne Isbister, Thuan Phuong, Matilda Jackson, Rachel Pope-Couston, Lisa Worgan, Gavin Chapman, Linda Wornham, Theosodia Charitou, Sarah Jane-Pantaleo, Preeti Punni, Kathy Wu, Belinda Chong, Renee Johnson, Laura Yeates, Felicity Collins, Andrew Kelly, Michael Quinn, Dominica Zentner, Gemma Correnti, Sarah King-Smith, Sulekha Rajagopalan, Edwin Kirk, Hariharan Raju, Fiona Cunningham, Sarah Kummerfeld, Timo Lassman, Matthew Regan, Jason Davis, Jonathon Lipton, Jonathan Rogers, Mark Ryan, Sarah Sandaradura, Michelle de Silva, Paul MacIntyre, Nicole Schonrock, Nicola Den Elzen, Paul Scuffham, Sophie Devery, Amali Mallawaarachchi, Julia Dobbins, Julia Mansour, Isabella Sherburn, Ellenore Martin, Mary-Clare Sherlock, Nathan Dwyer, Jacob Mathew, Emma Singer, Stefanie Elbracht-Leong, Carla Smerdon, David Elliott, Janine Smith
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101842- (2024)
Purpose: The Australian Genomics Cardiovascular Disorders Flagship was a national multidisciplinary collaboration. It aimed to investigate the feasibility of genome sequencing (GS) and functional genomics to resolve variants of uncertain significance
Externí odkaz:
https://doaj.org/article/c9654afa9dea4d2db6eb639d8979bf14
Autor:
Serena Li, Stuart Fraser, Ginell Ranpura, Seakcheng Lim, Emma S. Singer, Jeremy D.K. Parker, Joshua Crowe, Richard D. Bagnall, Zachary Laksman, Christopher Semsarian
Publikováno v:
Stem Cell Research, Vol 71, Iss , Pp 103153- (2023)
Variants in the sodium voltage-gated channel alpha subunit 5 gene (SCN5A) produce variable cardiac phenotypes including Brugada syndrome, conduction disease and cardiomyopathy. These phenotypes can lead to life-threatening arrhythmias, heart failure,
Externí odkaz:
https://doaj.org/article/3ff224fe6efa4bd6a9df71e6bd56f064
Autor:
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
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-14 (2022)
Abstract Background The diagnostic yield of genetic testing for inherited cardiac diseases is up to 40% and is primarily indicated for screening of at-risk relatives. Here, we evaluate the role of genomics in diagnosis and management among consecutiv
Externí odkaz:
https://doaj.org/article/f184e1d0a01942f097115bc1973c0a47
Autor:
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
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-19 (2022)
Abstract Background The majority of clinical genetic testing focuses almost exclusively on regions of the genome that directly encode proteins. The important role of variants in non-coding regions in penetrant disease is, however, increasingly being
Externí odkaz:
https://doaj.org/article/592317068741464ab4f2701a8ccc78e4
Autor:
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
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-17 (2022)
Abstract Cardiomyopathy (CMP) is a heritable disorder. Over 50% of cases are gene-elusive on clinical gene panel testing. The contribution of variants in non-coding DNA elements that result in cryptic splicing and regulate gene expression has not bee
Externí odkaz:
https://doaj.org/article/98efc3d1863c49afbe226a84a5eb5c6f
Autor:
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
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 7, Pp 1422-1432 (2021)
Abstract Objective To compare the frequency and impact on the channel function of KCNH2 variants in SUDEP patients with epilepsy controls comprising patients older than 50 years, a group with low SUDEP risk, and establish loss‐of‐function KCNH2 v
Externí odkaz:
https://doaj.org/article/a3cc4ade1c004ddf9b7c1aa827732045
Autor:
Lauren E. Bleakley, Ming S. Soh, Richard D. Bagnall, Lynette G. Sadleir, Samuel Gooley, Christopher Semsarian, Ingrid E. Scheffer, Samuel F. Berkovic, Christopher A. Reid
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
Sudden unexpected death in epilepsy (SUDEP) is the most common cause of premature mortality in individuals with epilepsy. Acute and adaptive changes in heart rhythm in epilepsy implicate cardiac dysfunction as a potential pathogenic mechanism in SUDE
Externí odkaz:
https://doaj.org/article/5be4330ce7214fc981cc37384e3e5349
Autor:
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
Publikováno v:
HeartRhythm Case Reports, Vol 4, Iss 4, Pp 146-151 (2018)
Externí odkaz:
https://doaj.org/article/47b3be4e6ee449818e2cf420b443dadb
Publikováno v:
Stem Cell Research, Vol 20, Iss C, Pp 76-79 (2017)
Induced pluripotent stem cells (iPSCs) were generated from peripheral blood mononuclear cells (PBMCs) obtained from a 62-year-old female with familial hypertrophic cardiomyopathy (HCM). PBMCs were reprogrammed to a pluripotent state following transfe
Externí odkaz:
https://doaj.org/article/16033209bf174742a01d340c877d4fa9