Functional and Clinical Studies Reveal Pathophysiological Complexity of CLCN4-Related Neurodevelopmental Condition
- Creator: Palmer, Elizabeth E. , Pusch, Michael , Nizon, Mathilde , Cogné, Benjamin , Beneteau, Claire , Alkuraya, Fowzan S. , Chedrawi, Aziza , Hashem, Mais O. , Stamberger, Hannah , Weckhuysen, Sarah , Vanlander, Arnaud , Ceulemans, Berten , Picollo, Alessandra , Rajagopalan, Sulekha , Nunn, K , Arpin, S , Raynaud, M , Motter, CS , Ward-Melver, C , Janssens, K , Meuwissen, M , Beysen, D , Dikow, N , Forwood, Caitlin , Grimmel, M , Haack, TB , Clement, E , McTague, A , Hunt, D , Townshend, S , Ward, M , Richards, LJ , Simons, C , Costain, G , Nguyen, Matthew H. , Dupuis, L , Mendoza-Londono, R , Dudding-Byth, Tracy , Boyle, J , Saunders, C , Fleming, E , El Chehadeh, S , Spitz, MA , Piton, A , Gerard, B , Suckow, Vanessa , Abi Warde, MT , Rea, G , McKenna, C , Douzgou, S , Banka, S , Akman, C , Bain, JM , Sands, TT , Wilson, GN , Silvertooth, EJ , Gibbons, Jessica , Miller, L , Lederer, D , Sachdev, R , Macintosh, R , Monestier, O , Karadurmus, D , Collins, F , Carter, M , Rohena, L , Willemsen, MH , Hoff, Alva , Ockeloen, CW , Pfundt, R , Kroft, SD , Field, M , Laranjeira, FER , Fortuna, AM , Soares, AR , Michaud, V , Naudion, S , Golla, S , Sigfrid, Lisa , Weaver, DD , Bird, LM , Friedman, J , Clowes, V , Joss, S , Pölsler, L , Campeau, PM , Blazo, M , Bijlsma, EK , Rosenfeld, JA , Megarbane, Andre , Beetz, C , Powis, Z , McWalter, K , Brandt, T , Torti, E , Mathot, M , Mohammad, SS , Armstrong, R , Kalscheuer, VM
- Resource Type: journal article
- Date: 2023
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
Homologous recombination DNA repair defects in PALB2-associated breast cancers
- Creator: Li, Anqi , Mane, G , Marsh, D , Mclachlan, S-A , Meiser, B , Milne, R , Nightingale, S , O'Connell, S , Pachter, N , Patterson, B , Phillips, K , Saleh, M , Salisbury, E , Saunders, C , Saunus, J , Scott, C , Scott, R , Sexton, A , Shelling, A , Simpson, P , Spigelman, A , Spurdle, M , Stone, J , Taylor, J , Thorne, H , Trainer, A , Trench, G , Tucker, K , Visvader, J , Walker, L , Wallis, M , Williams, R , Winship, I , Wu, K , Young, MA , Geyer, Felipe C. , Bi, Rui , Piscuoglio, Salvatore , Wen, Hannah Y. , Lozada, John R. , Gularte-Merida, Rodrigo , Cavallone, Luca , Rezoug, Zoulikha , Nguyen-Dumont, Tu , Peterlongo, Paolo , Tondini, Carlo , Blecua, Pedro , Terkelsen, Thorkild , Ronlund, K , Boonen, SE , Mannerma, A , Winqvist, R , Janatova, M , Rajadurai, P , Xia, B , Norton, L , Robson, ME , Lee, Ju Youn , Ng, P-S , Looi, L-M , Southey, MC , Weigelt, B , Soo-Hwang, T , Tischkowitz, M , Foulkes, WD , Reis-Filho, JS , Aghmesheh, M , Amor, D , Selenica, Pier , Andrews, L , Antill, Y , Balleine, R , Beesley, J , Blackburn, A , Bogwitz, M , Brown, M , Burgess, M , Burke, J , Butow, P , Brown, David N. , Caldon, L , Campbell, I , Christian, A , Clarke, C , Cohen, P , Crook, A , Cui, J , Cummings, M , Dawson, S-J , De Fazio, A , Pareja, Fresia , Delatycki, M , Dobrovic, A , Dudding, T , Duijf, P , Edkins, E , Edwards, S , Farshid, G , Fellows, A , Field, M , Flanagan, J , Lee, Simon S. K. , Fong, P , Forbes, John , Forrest, L , Fox, S , French, J , Friedlander, M , Ortega, DG , Gattas, M , Giles, G , Gill, G , Kumar, Rahul , Gleeson, M , Greening, S , Haan, E , Harris, M , Hayward, N , Hickie, I , Hopper, J , Hunt, C , James, P , Jenkins, M , Rivera, Barbara , Kefford, R , Kentwell, M , Kirk, J , Kollias, J , Lakhani, S , Lindeman, G , Lipton, L , Lobb, L , Lok, S , Macrea, F
- Resource Type: journal article
- Date: 2019