Browsing by Author Kirk, EP

Showing results 1 to 5 of 5
Issue DateTitleAuthor(s)
1-Sep-2019Pathogenic 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
1-Dec-2018Whole-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
1-Mar-2018Integrating 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
22-Feb-2018A 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
1-Aug-2009Expanded newborn screening: Outcome in screened and unscreened patients at age 6 yearsWilcken, B; Haas, M; Joy, P; Wiley, V; Bowling, F; Carpenter, K; Christodoulou, J; Cowley, D; Ellaway, C; Fletcher, J; Kirk, EP; Lewis, B; McGill, J; Peters, H; Pitt, J; Ranieri, E; Yaplito-Lee, J; Boneh, A