Article
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2022
Bournazos Adam M, Riley Lisa G, Bommireddipalli Shobhana, Ades Lesley, Akesson Lauren S, Al-Shinnag Mohammad, Alexander Stephen I, Archibald Alison D, Balasubramaniam Shanti, Berman Yemima, Beshay Victoria, Boggs Kirsten, Bojadzieva Jasmina, Brown Natasha J, Bryen Samantha J, Buckley Michael F, Chong Belinda, Davis Mark R, Dawes Ruebena, Delatycki Martin, Donaldson Liz, Downie Lilian, Edwards Caitlin, Edwards Matthew, Engel Amanda, Ewans Lisa J, Faiz Fathimath, Fennell Andrew, Field Michael, Freckmann Mary-Louise, Gallacher Lyndon, Gear Russell, Goel Himanshu, Goh Shuxiang, Goodwin Linda, Hanna Bernadette, Harraway James, Higgins Megan, Ho Gladys, Hopper Bruce K, Horton Ari E, Hunter Matthew F, Huq Aamira J, Josephi-Taylor Sarah, Joshi Himanshu, Kirk Edwin, Krzesinski Emma, Kumar Kishore R, Lemckert Frances, Leventer Richard J, Lindsey-Temple Suzanna E, Lunke Sebastian, Ma Alan, Macaskill Steven, Mallawaarachchi Amali, Marty Melanie, Marum Justine E, McCarthy Hugh J, Menezes Manoj P, McLean Alison, Milnes Di, Mohammad Shekeeb, Mowat David, Niaz Aram, Palmer Elizabeth E, Patel Chirag, Patel Shilpan G, Phelan Dean, Pinner Jason R, Rajagopalan Sulekha, Regan Matthew, Rodgers Jonathan, Rodrigues Miriam, Roxburgh Richard H, Sachdev Rani, Roscioli Tony, Samarasekera Ruvishani, Sandaradura Sarah A, Savva Elena, Schindler Tim, Shah Margit, Sinnerbrink Ingrid B, Smith Janine M, Smith Richard J, Springer Amanda, Stark Zornitza, Strom Samuel P, Sue Carolyn M, Tan Kenneth, Tan Tiong Y, Tantsis Esther, Tchan Michel C, Thompson Bryony A, Trainer Alison H, van Spaendonck-Zwarts Karin, Walsh Rebecca, Warwick Linda, White Stephanie, White Susan M, Williams Mark G, Wilson Meredith J, Wong Wui Kwan, Wright Dale C, Yap Patrick, Yeung Alison, Young Helen, Jones Kristi J, Bennetts Bruce, Cooper Sandra T
Abstract excerpt
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 (PCR)-based RNA diagnostics using clinically accessible specimens (blood, fibroblasts, urothelia, biopsy). METHODS: A total of 74 families with diverse monogenic conditions (31%...
