Issue Date | Title | Author(s) |
2017-10-24 | A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy. | Gururaj, S; Palmer, EE; Sheehan, GD; Kandula, T; Macintosh, R; Ying, K; Morris, P; Tao, J; Dias, K-R; Zhu, Y; Dinger, ME; Cowley, MJ; Kirk, EP; Roscioli, T; Sachdev, R; Duffey, ME; Bye, A; Bhattacharjee, A |
2019-12-01 | Development and validation of a targeted gene sequencing panel for application to disparate cancers | McCabe, MJ; Gauthier, MEA; Chan, CL; Thompson, TJ; De Sousa, SMC; Puttick, C; Grady, JP; Gayevskiy, V; Tao, J; Ying, K; Cipponi, A; Deng, N; Swarbrick, A; Thomas, ML; Lord, RV; Johns, AL; Kohonen-Corish, M; O’Toole, SA; Clark, J; Mueller, SA; Gupta, R; McCormack, AI; Dinger, ME; Cowley, MJ; Aghmesheh, M; Amor, D; Andrews, L; Antill, Y; Armitage, S; Arnold, L; Balleine, R; Bastick, P; Beesley, J; Beilby, J; Bennett, I; Blackburn, A; Bogwitz, M; Botes, L; Brennan, M; Brown, M; Buckley, M; Burgess, M; Burke, J; Butow, P; Caldon, L; Callen, D; Campbell, I; Chauhan, D; Chauhan, M; Chenevix-Trench, G; Christian, A; Clarke, C; Cohen, P; Colley, A; Crook, A; Cui, J; Culling, B; Cummings, M; Dawson, SJ; deFazio, A; Delatycki, M; Dickson, R; Dixon, J; Dobrovic, A; Dudding, T; Edkins, T; Edwards, S; Eisenbruch, M; Farshid, G; Fellows, A; Fenton, G; Field, M; Flanagan, J; Fong, P; Forrest, L; Fox, S; French, J; Friedlander, M; Gaff, C; Ortega, DG; Gattas, M; George, P; Giles, G; Gill, G; Greening, S; Haan, E; Harris, M; Hart, S; Hayward, N; Heiniger, L; Hopper, J; Hunt, C; James, P; Jenkins, M; Kefford, R; Kidd, A; Kirk, J; Koehler, J; Kollias, J; Lakhani, 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 |
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 |
2008-01 | Visualising the locative experience | Bowman, CP; Leung, TM; Hoofd, I; Tan, M; Ying, K |
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 |