Myeloid neoplasms arising after methotrexate therapy for autoimmune rheumatological diseases do not exhibit poor-risk molecular features

Autor: Mihir D. Wechalekar, Lin-Pierre Zhao, Monika M. Kutyna, Lih En Hong, Joule Li, Kevin Hung, Hamish S. Scott, Anna Brown, Christopher C. Hahn, Karin Kassahn, Dariusz Ladon, David T. Yeung, Daniel Thomas, Mrinal Patnaik, Susanna Proudman, Lionel Ades, Mithun V. Shah, Chung H. Kok, Devendra K. Hiwase

Publikováno v: Blood Cancer Journal, Vol 14, Iss 1, Pp 1-5 (2024)

Externí odkaz: https://doaj.org/article/8a363b1a155c4c5b8cf3f98ef635b878

Whole-Genome Sequencing of SARS-CoV-2 from Quarantine Hotel Outbreak

Autor: Lex E.X. Leong, Julien Soubrier, Mark Turra, Emma Denehy, Luke Walters, Karin Kassahn, Geoff Higgins, Tom Dodd, Robert Hall, Katina D’Onise, Nicola Spurrier, Ivan Bastian, Chuan K. Lim

Publikováno v: Emerging Infectious Diseases, Vol 27, Iss 8, Pp 2219-2221 (2021)

Hotel quarantine for international travelers has been used to prevent coronavirus disease spread into Australia. A quarantine hotel–associated community outbreak was detected in South Australia. Real-time genomic sequencing enabled rapid confirmati

Externí odkaz: https://doaj.org/article/bf3af54243d349ddb2274b2553d9a376

A genomic autopsy identifies causes of perinatal death and provides options to prevent recurrence

Autor: Hamish Scott, Alicia Byrne, Peer Arts, Thuong Ha, Karin Kassahn, Lynn Pais, Anne O’Donnell-Luria, Milena Babic, Mahalia Frank, Jinghhua Feng, Paul Wang, David Lawrence, Leila Eshraghi, Luis Arriola, John Toubia, Hung Nguyen, Genomic Autopsy Study Research Network, George McGillivray, Jason Pinner, Fiona McKenzie, Rebecca Morrow, Jillian Lipsett, Nick Manton, T Khong, Lynette Moore, Jan Liebelt, Andreas Schreiber, Sarah King-Smith, Tristan Hardy, Matilda Jackson, Christopher Barnett

Perinatal death, of a fetus or newborn, is a devastating event for families. Following nationwide multicentre recruitment, we assessed ‘genomic autopsy’ as an adjunct to standard autopsy for 200 families who experienced perinatal death, and provi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b6a5367579d77a119766f75ac5540e62
https://doi.org/10.21203/rs.3.rs-1215526/v1

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

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

2023 APHL/ISNS Newborn Screening Symposium.

Autor: Olney, Richard S., Bonham, James R., Schielen, Peter C. J. I., Slavin, Dara, Ojodu, Jelili

Publikováno v: International Journal of Neonatal Screening (IJNS); Dec2023, Vol. 9 Issue 4, p54, 151p