| 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 |
| 2009-08-01 | Expanded newborn screening: Outcome in screened and unscreened patients at age 6 years | Wilcken, 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 |
| 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 |
| 2022-11-01 | The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation | Archibald, AD; McClaren, BJ; Caruana, J; Tutty, E; King, EA; Halliday, JL; Best, S; Kanga-Parabia, A; Bennetts, BH; Cliffe, CC; Madelli, EO; Ho, G; Liebelt, J; Long, JC; Braithwaite, J; Kennedy, J; Massie, J; Emery, JD; McGaughran, J; Marum, JE; Boggs, K; Barlow-Stewart, K; Burnett, L; Dive, L; Freeman, L; Davis, MR; Downes, MJ; Wallis, M; Ferrie, MM; Pachter, N; Scuffham, PA; Casella, R; Allcock, RJN; Ong, R; Edwards, S; Righetti, S; Lunke, S; Lewis, S; Walker, SP; Boughtwood, TF; Hardy, T; Newson, AJ; Kirk, EP; Laing, NG; Delatycki, MB |
| 2022-09 | The views of people with a lived experience of deafness and the general public regarding genetic testing for deafness in the reproductive setting: A systematic review. | Freeman, L; Righetti, S; Delatycki, MB; Scully, JL; Kirk, EP |
| 2022-12 | Views of reproductive genetic carrier screening participants regarding screening for genes associated with non-syndromic hearing loss. | Freeman, L; Delatycki, MB; Leach Scully, J; Kirk, EP |
| 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 |
