Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants
- Creator: Bournazos, Adam M. , Riley, Lisa G. , Beshay, Victoria , Boggs, Kirsten , Bojadzieva, Jasmina , Brown, Natasha J. , Bryen, Samantha J. , Buckley, Michael F. , Chong, Belinda , Davis, Mark R. , Dawes, Ruebena , Delatycki, Martin , Bommireddipalli, Shobhana , Donaldson, L , Downie, L , Edwards, C , Edwards, M , Engel, A , Ewans, LJ , Faiz, F , Fennell, A , Field, M , Freckmann, ML , Ades, Lesley , Gallacher, L , Gear, R , Goel, Himanshu , Goh, S , Goodwin, L , Hanna, B , Harraway, J , Higgins, M , Ho, G , Hopper, BK , Akesson, Lauren S. , Horton, AE , Hunter, MF , Huq, AJ , Josephi-Taylor, S , Joshi, H , Kirk, E , Krzesinski, E , Kumar, KR , Lemckert, F , Leventer, RJ , Al-Shinnag, Mohammad , Lindsey-Temple, SE , Lunke, S , Ma, A , Macaskill, S , Mallawaarachchi, A , Marty, M , Marum, JE , McCarthy, HJ , Menezes, MP , McLean, A , Alexander, Stephen I. , Milnes, D , Mohammad, S , Mowat, D , Niaz, A , Palmer, EE , Patel, C , Patel, SG , Phelan, D , Pinner, JR , Rajagopalan, S , Archibald, Alison D. , Regan, M , Rodgers, J , Rodrigues, M , Roxburgh, RH , Sachdev, R , Roscioli, T , Samarasekera, R , Sandaradura, SA , Savva, E , Schindler, T , Balasubramaniam, Shanti , Shah, M , Sinnerbrink, IB , Smith, JM , Smith, RJ , Springer, A , Stark, Z , Strom, SP , Sue, CM , Tan, K , Tan, TY , Berman, Yemima , Tantsis, E , Tchan, MC , Thompson, BA , Trainer, AH , van Spaendonck-Zwarts, K , Walsh, R , Warwick, L , White, S , White, SM , Williams, MG
- Resource Type: journal article
- Date: 2022
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort
- Creator: Eggers, Stefanie , Sadedin, Simon , Cameron, Fergus , Werther, George , Hutson, John , O'Connell, Michele , Grover, Sonia R. , Heloury, Yves , Zacharin, Margaret , Bergman, Philip , Kimber, Chris , Brown, Justin , van den Bergen, Jocelyn A. , Webb, Nathalie , Hunter, Matthew F. , Srinivasan, Shubha , Titmuss, Angela , Verge, Charles F. , Mowat, David , Smith, Grahame , Smith, Janine , Ewans, Lisa , Shalhoub, Carolyn , Robevska, Gorjana , Crock, Patricia , Cowell, Chris , Leong, Gary M. , Ono, Makato , Lafferty, Antony R. , Huynh, Tony , Visser, Uma , Choong, Catherine S. , McKenzie, Fiona , Pachter, Nicholas , Ohnesorg, Thomas , Thompson, Elizabeth M. , Couper, Jennifer , Baxendale, Anne , Gecz, Jozef , Wheeler, Benjamin J. , Jefferies, Craig , MacKenzie, Karen , Hofman, Paul , Carter, Philippa , King, Richard I. , Hewitt, Jacqueline , Krausz, Csilla , van Ravenswaaij-Arts, Conny M. A. , Looijenga, Leendert , Drop, Sten , Riedl, Stefan , Cools, Martine , Dawson, Angelika , Juniarto, Achmad Zulfa , Khadilkar, Vaman , Khadilkar, Anuradha , Lambeth, Luke , Bhatia, Vijayalakshmi , Dũng, Vũ Chí , Atta, Irum , Raza, Jamal , thi Diem Chi, Nguyen , Hao, Tran Kiem , Harley, Vincent , Koopman, Peter , Warne, Garry , Faradz, Sultana , Bouty, Aurore , Oshlack, Alicia , Ayers, Katie L. , Sinclair, Andrew H. , Knarston, Ingred M. , Tan, Tiong Yang
- Resource Type: journal article
- Date: 2016