Zobrazeno 1 - 10
of 109
pro vyhledávání: '"Laura, Yeates"'
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:
Susan Christian, Amy Baker, Tara Dzwiniel, Kennedy Borle, Roya Mostafavi, Hannah Wand, Jill Slamon, Barbara Biesecker, Laura Yeates
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101744- (2024)
Externí odkaz:
https://doaj.org/article/ccff35420f054d4f967f2bd611fd37c0
Autor:
Alexandra Butters, Bianca Blanch, Anna Kemp-Casey, Judy Do, Laura Yeates, Felicity Leslie, Christopher Semsarian, Lee Nedkoff, Tom Briffa, Jodie Ingles, Joanna Sweeting
Publikováno v:
JMIR Research Protocols, Vol 12, p e48636 (2023)
BackgroundGenetic heart diseases such as hypertrophic cardiomyopathy can cause significant morbidity and mortality, ranging from syncope, chest pain, and palpitations to heart failure and sudden cardiac death. These diseases are inherited in an autos
Externí odkaz:
https://doaj.org/article/40cb86e656574b96bef15f51f79059a6
Autor:
Julia C. Isbister, MBBS, Belinda Gray, BSc (Med), MBBS, Sophie Offen, BSc, MBBS, Laura Yeates, BSc (hons), GradDipGenCouns, Chris Naoum, MBBS, PhD, Caroline Medi, BMed, PhD, Hariharan Raju, MBChB, PhD, Christopher Semsarian, MBBS, PhD, MPH, FHRS, Rajesh Puranik, MBBS, PhD, Raymond W. Sy, MBBS, PhD, FHRS
Publikováno v:
Heart Rhythm O2, Vol 4, Iss 1, Pp 34-41 (2023)
Background: Despite historically being considered a channelopathy, subtle structural changes have been reported in Brugada syndrome (BrS) on histopathology and cardiac magnetic resonance (CMR) imaging. It is not known if these structural changes prog
Externí odkaz:
https://doaj.org/article/ace11d4756d944a9b2bec5336a268f08
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:
Christopher Semsarian, Laura Yeates, Jodie Ingles, Karen Gardner, Judy Do, Lieke van den Heuvel, Gabrielle Fleming, Alison McEwen, Leesa Adlard
Publikováno v:
BMJ Open, Vol 12, Iss 8 (2022)
Objective To codesign an online support intervention for families after sudden cardiac death (SCD) in the young (
Externí odkaz:
https://doaj.org/article/7cbfbe3378324611b37db1d117db0364
Publikováno v:
Open Heart, Vol 7, Iss 2 (2020)
Objective The sudden cardiac death (SCD) of a young person is a devastating event for any parent. Inherited heart disease is often either identified or assumed to be the cause. Few studies have explored the psychosocial impact to the surviving at-ris
Externí odkaz:
https://doaj.org/article/ffc78d2ad8fa4497bad0a3c16e0f6170
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
Autor:
Alexandra Butters, Bianca Blanch, Anna Kemp-Casey, Judy Do, Laura Yeates, Felicity Leslie, Christopher Semsarian, Lee Nedkoff, Tom Briffa, Jodie Ingles, Joanna Sweeting
BACKGROUND Genetic heart diseases cause significant morbidity and mortality, ranging from syncope, chest pain and palpitations to heart failure and sudden cardiac death. However, the healthcare utilisation patterns of individuals with a genetic heart
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f23a0bd0376e55ad36897e3a2fcab702
https://doi.org/10.2196/preprints.48636
https://doi.org/10.2196/preprints.48636