Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Chiyan Lau"'
Autor:
Aimee L. Davidson, Uwe Dressel, Sarah Norris, Daffodil M. Canson, Dylan M. Glubb, Cristina Fortuno, Georgina E. Hollway, Michael T. Parsons, Miranda E. Vidgen, Oliver Holmes, Lambros T. Koufariotis, Vanessa Lakis, Conrad Leonard, Scott Wood, Qinying Xu, Amy E. McCart Reed, Hilda A. Pickett, Mohammad K. Al-Shinnag, Rachel L. Austin, Jo Burke, Elisa J. Cops, Cassandra B. Nichols, Annabel Goodwin, Marion T. Harris, Megan J. Higgins, Emilia L. Ip, Catherine Kiraly-Borri, Chiyan Lau, Julia L. Mansour, Michael W. Millward, Melissa J. Monnik, Nicholas S. Pachter, Abiramy Ragunathan, Rachel D. Susman, Sharron L. Townshend, Alison H. Trainer, Simon L. Troth, Katherine M. Tucker, Mathew J. Wallis, Maie Walsh, Rachel A. Williams, Ingrid M. Winship, Felicity Newell, Emma Tudini, John V. Pearson, Nicola K. Poplawski, Helen G. Mar Fan, Paul A. James, Amanda B. Spurdle, Nicola Waddell, Robyn L. Ward
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-16 (2023)
Abstract Background Many families and individuals do not meet criteria for a known hereditary cancer syndrome but display unusual clusters of cancers. These families may carry pathogenic variants in cancer predisposition genes and be at higher risk f
Externí odkaz:
https://doaj.org/article/e7517b7792c7450392b54b67bde9ca87
Autor:
Amy E McCart Reed, Therese McCurry, Georgina Hollway, Haidar Al-Saig, Vladimir Andelkovic, Katharine Cuff, Margaret Cummings, David Fairbairn, Po-ling Inglis, Gillian Jagger, Helene Johanson, Lauren Kalinowski, Olga Kondrashova, Lambros T. Koufariotis, Anna Kuchel, Rahul Ladwa, Chiyan Lau, Ben Lundie, Helen Mar Fan, Nicole McCarthy, Kathryn Middleton, Kowsalya Murugappan, Mark Nalder, Colleen Niland, Michelle K Nottage, Kenneth J O’Byrne, John V Pearson, Kate Roberts, Gorane Santamaria Hormaechea, Cameron Snell, Karin Steinke, Aneta Suder, Diana Tam, Euan Walpole, Natasha Woodward, Clement Wong, Ho Yi Wong, Wen Xu, Peter T Simpson, Nicola Waddell, Sunil R Lakhani
BackgroundThe cancer genomics field has embraced the advent of precision oncology, and vast volumes of data have been mined for biomarkers of drug actionability. While some cancers, such as lung cancer, have detailed panels of actionable genomic biom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::26404667885c64935187c486cb1d20c0
https://doi.org/10.1101/2023.02.21.23286199
https://doi.org/10.1101/2023.02.21.23286199
Autor:
Priya Susan Roy, Lawrence Hui, Mark McKinley, Adapalayam Nandini, Sam McManus, Hnin Aung, Ghusoon AbdulRasool, Chiyan Lau
Publikováno v:
Pathology. 55:S16-S17
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a15f5e80d1218e81f5284721857d38c0
https://doi.org/10.1016/j.pathol.2022.12.060
https://doi.org/10.1016/j.pathol.2022.12.060
Autor:
Lata Vadlamudi, Carmen Maree Bennett, Melanie Tom, Ghusoon Abdulrasool, Kristian Brion, Ben Lundie, Hnin Aung, Chiyan Lau, Jonathan Rodgers, Kate Riney, Louisa Gordon
Publikováno v:
Journal of Clinical Medicine; Volume 11; Issue 14; Pages: 4238
Background. The genomic era has led to enormous progress in clinical care and a multi-disciplinary team (MDT) approach is imperative for integration of genomics into epilepsy patient care. Methods. The MDT approach involved patient selection, genomic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ce9e5a593cb35323d4788161f036ecb
Autor:
Emma Tudini, James Andrews, David M. Lawrence, Sarah L. King-Smith, Naomi Baker, Leanne Baxter, John Beilby, Bruce Bennetts, Victoria Beshay, Michael Black, Tiffany F. Boughtwood, Kristian Brion, Pak Leng Cheong, Michael Christie, John Christodoulou, Belinda Chong, Kathy Cox, Mark R. Davis, Lucas Dejong, Marcel E. Dinger, Kenneth D. Doig, Evelyn Douglas, Andrew Dubowsky, Melissa Ellul, Andrew Fellowes, Katrina Fisk, Cristina Fortuno, Kathryn Friend, Renee L. Gallagher, Song Gao, Emma Hackett, Johanna Hadler, Michael Hipwell, Gladys Ho, Georgina Hollway, Amanda J. Hooper, Karin S. Kassahn, Rahul Krishnaraj, Chiyan Lau, Huong Le, Huei San Leong, Ben Lundie, Sebastian Lunke, Anthony Marty, Mary McPhillips, Lan T. Nguyen, Katia Nones, Kristen Palmer, John V. Pearson, Michael C.J. Quinn, Lesley H. Rawlings, Simon Sadedin, Louisa Sanchez, Andreas W. Schreiber, Emanouil Sigalas, Aygul Simsek, Julien Soubrier, Zornitza Stark, Bryony A. Thompson, James U, Cassandra G. Vakulin, Amanda V. Wells, Cheryl A. Wise, Rick Woods, Andrew Ziolkowski, Marie-Jo Brion, Hamish S. Scott, Natalie P. Thorne, Amanda B. Spurdle, Lauren Akesson, Richard Allcock, Katie Ashton, Damon A. Bell, Anna Brown, Michael Buckley, John R. Burnett, Linda Burrows, Alicia Byrne, Eva Chan, Corrina Cliffe, Roderick Clifton-Bligh, Susan Dooley, Miriam Fanjul Fernandez, Elizabeth Farnsworth, Thuong Ha, Denae Henry, Duncan Holds, Katherine Holman, Matilda Jackson, Sinlay Kang, Catherine Luxford, Sam McManus, Rachael Mehrtens, Cliff Meldrum, David Mossman, Sarah-Jane Pantaleo, Dean Phelan, Electra Pontikinas, Anja Ravine, Tony Roscioli, Rodney Scott, Keryn Simons, Oliver Vanwageningen
Publikováno v:
Am J Hum Genet
Sharing genomic variant interpretations across laboratories promotes consistency in variant assertions. A landscape analysis of Australian clinical genetic-testing laboratories in 2017 identified that, despite the national-accreditation-body recommen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3847493e457643efaf7244e001b19ac0
https://pubmed.ncbi.nlm.nih.gov/36332611
https://pubmed.ncbi.nlm.nih.gov/36332611
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:
Ken L. Wan, Paul Froomes, Laura J. Mazurkijevic, Tamaryn Knezovich, Kyle Dennis, Essra Bartlett, Nicole L.N. Chia, Mark G. Williams, Peter J. Taylor, Zhong X. Lu, Nilika Wijeratne, Alan McNeil, Chiyan Lau, Abhijit R. Kulkarni, Kym D. Mina
Publikováno v:
Pathology. 55:S92
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a9e15fa21bb8db28e82104c263a5ae08
https://doi.org/10.1016/j.pathol.2022.12.309
https://doi.org/10.1016/j.pathol.2022.12.309
Autor:
Melanie Wong, Bruce Bennetts, Stephen Adelstein, Cheng Yee Chan, Lesley C. Adès, Andrew Biggin, Annabelle Enriquez, Jason Pinner, Chiyan Lau
Publikováno v:
Journal of Clinical Immunology. 38:234-236
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::04de2b6dc50317b07757c7189fa3b32a
https://doi.org/10.1007/s10875-018-0484-0
https://doi.org/10.1007/s10875-018-0484-0
Autor:
Arthur Hsu, Bruce Bennetts, Graeme Suthers, Chiyan Lau, Timothy D. Smith, Vanessa Tyrrell, S. Mead, Graham R. Taylor, Cliff Meldrum, Melody Caramins, Richard G.H. Cotton
Publikováno v:
Applied & Translational Genomics
Applied and Translational Genomics, Vol 3, Iss 3, Pp 54-57 (2014)
Applied and Translational Genomics, Vol 3, Iss 3, Pp 54-57 (2014)
Despite the routine nature of comparing sequence variations identified during clinical testing to database records, few databases meet quality requirements for clinical diagnostics. To address this issue, The Royal College of Pathologists of Australa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::990b8fd5e231fc35eef814a9ab6e90b3
Publikováno v:
Pathology. 51:S33
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9656da64c97eb5e42329e7a052061926
https://doi.org/10.1016/j.pathol.2018.12.074
https://doi.org/10.1016/j.pathol.2018.12.074