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Standardized Practices for RNA Diagnostics Using Clinically Accessible Specimens Reclassifies 75% of Putative Splicing Variants.

Adam M. Bournazos,Lisa G. Riley,Shobhana Bommireddipalli,Lesley Ades,Lauren S. Akesson,Mohammad Al-Shinnag,Stephen 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

Genetics in medicine（2022）

Cited 59|Views68
Key words
Genetic diagnosis,Noncoding variant,Pre-mRNA splicing,Putative splice variant,Variant classification
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