Browsing byAuthorCowley, MJ

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Showing results 1 to 5 of 5
Issue DateTitleAuthor(s)
2019-12-01Development and validation of a targeted gene sequencing panel for application to disparate cancersMcCabe, 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
2018-03-01Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectivenessPalmer, 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
2018-02-22A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and SeizuresGennarino, 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
2019-09-01Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complicationsEwans, 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
2018-12-01Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disordersEwans, 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