Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Sarah Josephi-Taylor"'
Autor:
Yuyan Chen, Mark Pinese, Claire Wakefield, Frank Alvaro, Katherine Tucker, Tracey A O’Brien, Vanessa J Tyrrell, Judy Kirk, Kate Hetherington, Eliza Courtney, Kristine Barlow-Stewart, Noemi Auxiliadora Fuentes Bolanos, Bhavna Padhye, Macabe Daley, Jacqueline Hunter, Meera Warby, Sarah Josephi-Taylor, Marie Wong-Erasmus, Paulette Barahona, Pamela Ajuyah, Ann-Kristin Altekoester, Loretta M S Lau, Dianne Sylvester, Luciano Dalla Pozza
Publikováno v:
BMJ Open, Vol 13, Iss 5 (2023)
Introduction Identifying an underlying germline cancer predisposition (CP) in a child with cancer has potentially significant implications for both the child and biological relatives. Cohort studies indicate that 10%–15% of paediatric cancer patien
Externí odkaz:
https://doaj.org/article/da226946131d4fd0bb6f8385a8b6d90d
Autor:
Mohammad Al-shinnag, Caitlin Forwood, Rebecca Walsh, Sarah Josephi-Taylor, Alyssa Wilson, Futao Zhang, Ying Zhu, Ali Moghimi, Michael F. Buckley, Tony Roscioli
Publikováno v:
Pathology. 55:S41
Autor:
Adam M. Bournazos, Lisa G. Riley, Shobhana Bommireddipalli, Lesley Ades, Lauren S. Akesson, Mohammad Al-Shinnag, Stephen I. Alexander, Alison D. Archibald, Shanti Balasubramaniam, Yemima Berman, Victoria Beshay, Kirsten Boggs, Jasmina Bojadzieva, Natasha J. Brown, Samantha J. Bryen, Michael F. Buckley, Belinda Chong, Mark R. Davis, Ruebena Dawes, Martin Delatycki, Liz Donaldson, Lilian Downie, Caitlin Edwards, Matthew Edwards, Amanda Engel, Lisa J. Ewans, Fathimath Faiz, Andrew Fennell, Michael Field, Mary-Louise Freckmann, Lyndon Gallacher, Russell Gear, Himanshu Goel, Shuxiang Goh, Linda Goodwin, Bernadette Hanna, James Harraway, Megan Higgins, Gladys Ho, Bruce K. Hopper, Ari E. Horton, Matthew F. Hunter, Aamira J. Huq, Sarah Josephi-Taylor, Himanshu Joshi, Edwin Kirk, Emma Krzesinski, Kishore R. Kumar, Frances Lemckert, Richard J. Leventer, Suzanna E. Lindsey-Temple, Sebastian Lunke, Alan Ma, Steven Macaskill, Amali Mallawaarachchi, Melanie Marty, Justine E. Marum, Hugh J. McCarthy, Manoj P. Menezes, Alison McLean, Di Milnes, Shekeeb Mohammad, David Mowat, Aram Niaz, Elizabeth E. Palmer, Chirag Patel, Shilpan G. Patel, Dean Phelan, Jason R. Pinner, Sulekha Rajagopalan, Matthew Regan, Jonathan Rodgers, Miriam Rodrigues, Richard H. Roxburgh, Rani Sachdev, Tony Roscioli, Ruvishani Samarasekera, Sarah A. Sandaradura, Elena Savva, Tim Schindler, Margit Shah, Ingrid B. Sinnerbrink, Janine M. Smith, Richard J. Smith, Amanda Springer, Zornitza Stark, Samuel P. Strom, Carolyn M. Sue, Kenneth Tan, Tiong Y. Tan, Esther Tantsis, Michel C. Tchan, Bryony A. Thompson, Alison H. Trainer, Karin van Spaendonck-Zwarts, Rebecca Walsh, Linda Warwick, Stephanie White, Susan M. White, Mark G. Williams, Meredith J. Wilson, Wui Kwan Wong, Dale C. Wright, Patrick Yap, Alison Yeung, Helen Young, Kristi J. Jones, Bruce Bennetts, Sandra T. Cooper, Ghusoon Abdulrasool, Ghamdan Al Eryani, Peer Arts, Richard Bagnall, Naomi L. Baker, Christopher Barnett, Sarah Beecroft, Marina Berbic, Michael Black, Jim Blackburn, Piers Blombery, Susan Branford, Jimmy Breen, Leslie Burnett, Daffodil Canson, Pak Cheong, Edward Chew, John Christodoulou, Seo-Kyung Chung, Mike Clark, Corrina Cliffe, Melissa Cole, Felicity Collins, Alison Compton, Antony Cooper, Mark Corbett, Mark Cowley, Tracy Dudding, Stefanie Eggers, Eduardo Eyras, Miriam Fanjul Fernandez, Andrew Fellowes, Ron Fleischer, Chiara Folland, Lucy Fox, Clara Gaff, Melanie Galea, Roula Ghaoui, Ilias Gornanitis, Thuong Ha, Rippei Hayashi, Ian Hayes, Alex Henderson, Luke Hesson, Erin Heyer, Michael Hildebrand, Michael Hipwell, Cass Hoskins, Matilda Jackson, Paul James, Justin Jong-Leong Wong, Karin Kassahn, Peter Kaub, Lucy Kevin, Smitha Kumble, Sarah Kummerfeld, Nigel Laing, Chiyan Lau, Eric Lee, Sarah Leighton, Ben Lundie, Chelsea Mayoh, Julie McGaughran, Mary McPhillips, Cliff Meldrum, Edwina Middleton, Kym Mina, Amy Nisselle, Emily Oates, Alicia Oshlack, Gayathri Parasivam, Michael Parsons, Michael Quinn, John Rasko, Gina Ravenscroft, Anja Ravine, Krista Recsei, Jacqueline Rehn, Stephen Robertson, Anne Ronan, Georgina Ryland, Simon Sadedin, Andreas Schreiber, Hamish Scott, Rodney Scott, Christopher Semsarian, Cas Simons, Emma Singer, Renee Smyth, Amanda Spurdle, Patricia Sullivan, Samantha Sundercombe, David Thorburn, John Toubia, Ronald Trent, Emma Tudini, Irina Voneague, Leigh Waddell, Logan Walker, Mathew Wallis, Nick Warnock, Robert Weatheritt, Deborah White, Ingrid Winship, Lisa Worgan, Kathy Wu, Andrew Ziolowski
usc Refereed/Peer-reviewed Purpose: Genetic variants causing aberrant premessenger RNA splicing are increasingly being recognized as causal variants in genetic disorders. In this study, we devise standardized practices for polymerase chain reaction (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e89d7bfd7ca0514671d5a9885197b140
https://hdl.handle.net/11541.2/34507
https://hdl.handle.net/11541.2/34507
Autor:
Edwin P. Kirk, Velimir Gayevskiy, Sulekha Rajagopalan, Arthavan Selvanathan, Kristine Barlow-Stewart, George Elakis, Michael Buckley, Sarah Josephi-Taylor, William Lo, Lisa Worgan, Alan H. Bittles, Tony Roscioli, Alison Colley, Mark J. Cowley, Leslie Burnett
Publikováno v:
Genetics in Medicine. 21:608-612
To provide proof of concept by broadening preconception screening beyond targeted testing to inform reproductive risk in consanguineous couples. Consanguineous couples were screened for autosomal recessive and X-linked disorders using the TruSight On
Autor:
Alan H. Bittles, Sulekha Rajagopalan, Edwin P. Kirk, Lisa Worgan, Bettina Meiser, Alison Colley, Tony Roscioli, Arthavan Selvanathan, Kristine Barlow-Stewart, Sarah Josephi-Taylor
Publikováno v:
Journal of Genetic Counseling. 28:240-250
The study aimed to explore with consanguineous couples in Australia the acceptability and perceived utility of whole exome reproductive carrier screening for autosomal recessive and X-linked recessive conditions. Semi-structured interviews with 21 co
Autor:
Sarah Josephi-Taylor
Publikováno v:
Don't Forget The Bubbles.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 21(5)
Publikováno v:
Genetics in Medicine. 21:1258