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

2021; Elsevier BV; Volume: 24; Issue: 1 Linguagem: Inglês

10.1016/j.gim.2021.09.001

1530-0366

Adam Bournazos, Lisa G. Riley, Shobhana Bommireddipalli, Lesley C. Adès, Lauren 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 B. Delatycki, Liz Donaldson, Lilian Downie, Matthew Edwards, Matthew Edwards, Amanda Engel, Lisa 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 Hopper, Ari Horton, Matthew F. Hunter, Aamira Huq, Sarah Josephi‐Taylor, Himanshu Joshi, Edwin P. Kirk, Emma Krzesinski, Kishore R. Kumar, Frances A. Lemckert, Richard J. Leventer, Suzanna Lindsey-Temple, Sebastian Lunke, Alan Ma, Steven Macaskill, Amali Mallawaarachchi, Melanie A. Marty, Justine E. Marum, Hugh J. McCarthy, Manoj P. Menezes, Alison McLean, Di Milnes, Shekeeb S. Mohammad, David Mowat, Aram Niaz, Elizabeth E. Palmer, Chirag Patel, Chirag Patel, Dean Phelan, Jason Pinner, Sulekha Rajagopalan, Matthew Regan, Jonathan Rodgers, Miriam Rodrigues, Richard Roxburgh, Rani Sachdev, Tony Roscioli, Ruvishani Samarasekera, Sarah A. Sandaradura, Elena Savva, Tim Schindler, Margit Shah, Ingrid Sinnerbrink, Janine Smith, Richard J. Smith, Amanda Springer, Zornitza Stark, Samuel P. Strom, Carolyn M. Sue, Kenneth Tan, Tiong Yang Tan, Esther Tantsis, Michel Tchan, Bryony A. Thompson, Alison H. Trainer, Karin van Spaendonck‐Zwarts, Rebecca Walsh, Linda Warwick, Stephanie White, Susan M. White, Mark Williams, Meredith Wilson, Wui‐Kwan Wong, Dale Wright, Patrick Yap, Alison Yeung, Helen Young, Kristi Jones, Bruce Bennetts, Sandra T. Cooper, Ghusoon Abdulrasool, Lauren Akesson, Ghamdan Al‐Eryani, Mohammad Al-Shinnag, Peer Arts, Richard D. Bagnall, Naomi L. Baker, Christopher Barnett, Sarah J. Beecroft, Bruce Bennetts, Marina Berbic, Victoria Beshay, Michael W. Black, James Blackburn, Piers Blombery, Kirsten Boggs, Adam Bournazos, Susan Branford, James Breen, Natasha J. Brown, Samantha J. Bryen, Leslie Burnett, Daffodil M. Canson, Pak Leng Cheong, Edward Chew, Belinda Chong, John Christodoulou, Seo‐Kyung Chung, Mike Clark, Corrina Cliffe, Melissa Cole, Felicity Collins, Alison G. Compton, Antony A. Cooper, Sandra T. Cooper, Mark Corbett, Mark J. Cowley, Mark R. Davis, Martin B. Delatycki, Tracy Dudding, Matthew Edwards, Stefanie Eggers, Lisa Ewans, Eduardo Eyras, Fathimath Faiz, Miriam Fanjul‐Fernández, Andrew Fellowes, Andrew Fennell, Michael Field, Ron Fleischer, Chiara Folland, Lucy C. Fox, Mary‐Louise Freckmann, Clara Gaff, Melanie Galea, Roula Ghaoui, Himanshu Goel, Ilias Gornanitis, Thuong Ha, Bernadette Hanna, James Harraway, Rippei Hayashi, Ian Hayes, Alex Henderson, Luke B. Hesson, Erin E. Heyer, Michael S. Hildebrand, Michael Hipwell, Gladys Ho, Ari Horton, Cass Hoskins, Matthew F. Hunter, Matilda R. Jackson, Paul A. James, Kristi Jones, Justin Jong-Leong Wong, Sarah Josephi‐Taylor, Himanshu Joshi, Karin S. Kassahn, Peter A. Kaub, Lucy Kevin, Edwin P. Kirk, Emma Krzesinski, Smitha Kumble, Sarah Kummerfeld, Nigel G. Laing, Chiyan Lau, Eric Lee, Sarah Leighton, Ben Lundie, Sebastian Lunke, Amali Mallawaarachchi, Chelsea Mayoh, Julie McGaughran, Alison McLean, Mary McPhillips, Cliff Meldrum, Edwina Middleton, Di Milnes, Kym Mina, David Mowat, Amy Nisselle, Emily C. Oates, Alicia Oshlack, Elizabeth E. Palmer, Gayathri Parasivam, Michael T. Parsons, Chirag Patel, Jason Pinner, Michael C. Quinn, John E.J. Rasko, Gianina Ravenscroft, Anja Ravine, Krista Recsei, Matthew Regan, Jacqueline Rehn, Lisa G. Riley, Stephen P. Robertson, Anne Ronan, Tony Roscioli, Georgina L. Ryland, Simon Sadedin, Sarah A. Sandaradura, Andreas Schreiber, Hamish S. Scott, Rodney J. Scott, Christopher Semsarian, Cas Simons, Emma S. Singer, Janine Smith, Renee Smyth, Amanda B. Spurdle, Zornitza Stark, Patricia A. Sullivan, Samantha Sundercombe, Tiong Yang Tan, Michel Tchan, Bryony A. Thompson, David R. Thorburn, John Toubia, Ronald J. Trent, Emma Tudini, Irina Voneague, Leigh B. Waddell, Logan C. Walker, Mathew Wallis, Nick Warnock, Robert J. Weatheritt, Deborah White, Susan M. White, Mark Williams, Meredith Wilson, Ingrid Winship, Lisa Worgan, Dale Wright, Kathy H. C. Wu, Alison Yeung, Andrew Ziolowski,

Genomics and Rare Diseases