Issue Date | Title | Author(s) |
2022-07-29 | Clinical impact of whole-genome sequencing in patients with early-onset dementia. | Huq, AJ; Thompson, B; Bennett, MF; Bournazos, A; Bommireddipalli, S; Gorelik, A; Schultz, J; Sexton, A; Purvis, R; West, K; Cotter, M; Valente, G; Hughes, A; Riaz, M; Walsh, M; Farrand, S; Loi, SM; Kilpatrick, T; Brodtmann, A; Darby, D; Eratne, D; Walterfang, M; Delatycki, MB; Storey, E; Fahey, M; Cooper, S; Lacaze, P; Masters, CL; Velakoulis, D; Bahlo, M; James, PA; Winship, I |
2024-11-25 | Considering severity in the design of reproductive genetic carrier screening programs: screening for severe conditions. | Freeman, L; Archibald, AD; Dive, L; Delatycki, MB; Kirk, EP; Laing, N; Newson, AJ |
2021-06-25 | Evaluation of two population screening programmes for <i>BRCA1/2</i> founder mutations in the Australian Jewish community: a protocol paper. | Cousens, NE; Tiller, J; Meiser, B; Barlow-Stewart, K; Rowley, S; Ko, Y-A; Mahale, S; Campbell, IG; Kaur, R; Bankier, A; Burnett, L; Jacobs, C; James, PA; Trainer, A; Neil, S; Delatycki, MB; Andrews, L |
2024-11-21 | Nationwide, Couple-Based Genetic Carrier Screening. | Kirk, EP; Delatycki, MB; Archibald, AD; Tutty, E; Caruana, J; Halliday, JL; Lewis, S; McClaren, BJ; Newson, AJ; Dive, L; Best, S; Long, JC; Braithwaite, J; Downes, MJ; Scuffham, PA; Massie, J; Barlow-Stewart, K; Kulkarni, A; Ruscigno, A; Kanga-Parabia, A; Rodrigues, B; Bennetts, BH; Ebzery, C; Hunt, C; Cliffe, CC; Lee, C; Azmanov, D; King, EA; Madelli, EO; Zhang, F; Ho, G; Danos, I; Liebelt, J; Fletcher, J; Kennedy, J; Beilby, J; Emery, JD; McGaughran, J; Marum, JE; Scarff, K; Fisk, K; Harrison, K; Boggs, K; Giameos, L; Fitzgerald, L; Thomas, L; Burnett, L; Freeman, L; Harris, M; Berbic, M; Davis, MR; Cifuentes Ochoa, M; Wallis, M; Wall, M; Chow, MTM; Ferrie, MM; Pachter, N; Quayum, N; Lang, N; Kasi Pandy, P; Casella, R; Allcock, RJN; Ong, R; Edwards, S; Sundercombe, S; Jelenich, S; Righetti, S; Lunke, S; Kaur, S; Stock-Myer, S; Eggers, S; Walker, SP; Theodorou, T; Catchpool, T; Clinch, T; Roscioli, T; Hardy, T; Zhu, Y; Fehlberg, Z; Boughtwood, TF; Laing, NG; Mackenzie’s Mission Investigators,; Mackenzie's Mission Investigators, |
2023-08-02 | Should genes for non-syndromic hearing loss be included in reproductive genetic carrier screening: Views of people with a personal or family experience of deafness. | Freeman, L; Bristowe, L; Kirk, EP; Delatycki, MB; Scully, JL |
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 |
2021-01-15 | The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective. | Eratne, D; Schneider, A; Lynch, E; Martyn, M; Velakoulis, D; Fahey, M; Kwan, P; Leventer, R; Rafehi, H; Chong, B; Stark, Z; Lunke, S; Phelan, DG; O'Keefe, M; Siemering, K; West, K; Sexton, A; Jarmolowicz, A; Taylor, JA; Schultz, J; Purvis, R; Uebergang, E; Chalinor, H; Creighton, B; Gelfand, N; Saks, T; Prawer, Y; Smagarinsky, Y; Pan, T; Goranitis, I; Ademi, Z; Gaff, C; Huq, A; Walsh, M; James, PA; Krzesinski, EI; Wallis, M; Stutterd, CA; Bahlo, M; Delatycki, MB; Berkovic, SF |
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 |
2013-03-01 | Understanding the costs of care for cystic fibrosis: An analysis by age and health state | Van Gool, K; Norman, R; Delatycki, MB; Hall, J; Massie, J |
2023-05 | Views of healthcare professionals on the inclusion of genes associated with non-syndromic hearing loss in reproductive genetic carrier screening. | Freeman, L; Delatycki, MB; Scully, JL; Briggs, N; 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 |