Showing results 5 to 11 of 11
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| Issue Date | Title | Author(s) |
| 2018-03-01 | Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness | Palmer, EE; Schofield, D; Shrestha, R; Kandula, T; Macintosh, R; Lawson, JA; Andrews, I; Sampaio, H; Johnson, AM; Farrar, MA; Cardamone, M; Mowat, D; Elakis, G; Lo, W; Zhu, Y; Ying, K; Morris, P; Tao, J; Dias, KR; Buckley, M; Dinger, ME; Cowley, MJ; Roscioli, T; Kirk, EP; Bye, A; Sachdev, RK |
| 2016-06-02 | JRK is a positive regulator of β-catenin transcriptional activity commonly overexpressed in colon, breast and ovarian cancer. | Pangon, L; Ng, I; Giry-Laterriere, M; Currey, N; Morgan, A; Benthani, F; Tran, PN; Al-Sohaily, S; Segelov, E; Parker, BL; Cowley, MJ; Wright, DC; St Heaps, L; Carey, L; Rooman, I; Kohonen-Corish, MRJ |
| 2018-02-22 | A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures | Gennarino, VA; Palmer, EE; McDonell, LM; Wang, L; Adamski, CJ; Koire, A; See, L; Chen, CA; Schaaf, CP; Rosenfeld, JA; Panzer, JA; Moog, U; Hao, S; Bye, A; Kirk, EP; Stankiewicz, P; Breman, AM; McBride, A; Kandula, T; Dubbs, HA; Macintosh, R; Cardamone, M; Zhu, Y; Ying, K; Dias, KR; Cho, MT; Henderson, LB; Baskin, B; Morris, P; Tao, J; Cowley, MJ; Dinger, ME; Roscioli, T; Caluseriu, O; Suchowersky, O; Sachdev, RK; Lichtarge, O; Tang, J; Boycott, KM; Holder, JL; Zoghbi, HY |
| 2019-09-01 | Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications | Ewans, LJ; Colley, A; Gaston-Massuet, C; Gualtieri, A; Cowley, MJ; McCabe, MJ; Anand, D; Lachke, SA; Scietti, L; Forneris, F; Zhu, Y; Ying, K; Walsh, C; Kirk, EP; Miller, D; Giunta, C; Sillence, D; DInger, M; Buckley, M; Roscioli, T |
| 2023-06-23 | Precision Medicine Is Changing the Roles of Healthcare Professionals, Scientists, and Research Staff: Learnings from a Childhood Cancer Precision Medicine Trial. | Daly, R; Hetherington, K; Hazell, E; Wadling, BR; Tyrrell, V; Tucker, KM; Marshall, GM; Ziegler, DS; Lau, LMS; Trahair, TN; O'Brien, TA; Collins, K; Gifford, AJ; Haber, M; Pinese, M; Malkin, D; Cowley, MJ; Karpelowsky, J; Drew, D; Jacobs, C; Wakefield, CE |
| 2021-03 | Targeted Therapy of <i>TERT</i>-Rearranged Neuroblastoma with BET Bromodomain Inhibitor and Proteasome Inhibitor Combination Therapy. | Chen, J; Nelson, C; Wong, M; Tee, AE; Liu, PY; La, T; Fletcher, JI; Kamili, A; Mayoh, C; Bartenhagen, C; Trahair, TN; Xu, N; Jayatilleke, N; Wong, M; Peng, H; Atmadibrata, B; Cheung, BB; Lan, Q; Bryan, TM; Mestdagh, P; Vandesompele, J; Combaret, V; Boeva, V; Wang, JY; Janoueix-Lerosey, I; Cowley, MJ; MacKenzie, KL; Dolnikov, A; Li, J; Polly, P; Marshall, GM; Reddel, RR; Norris, MD; Haber, M; Fischer, M; Zhang, XD; Pickett, HA; Liu, T |
| 2018-12-01 | Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders | Ewans, LJ; Schofield, D; Shrestha, R; Zhu, Y; Gayevskiy, V; Ying, K; Walsh, C; Lee, E; Kirk, EP; Colley, A; Ellaway, C; Turner, A; Mowat, D; Worgan, L; Freckmann, ML; Lipke, M; Sachdev, R; Miller, D; Field, M; Dinger, ME; Buckley, MF; Cowley, MJ; Roscioli, T |
