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Issue DateTitleAuthor(s)
2022-07-29Clinical 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
2022-07Real world outcomes and implementation pathways of exome sequencing in an adult genetic department.Walsh, M; West, K; Taylor, JA; Thompson, BA; Hopkins, A; Sexton, A; Ragunathan, A; Verma, KP; Panetta, J; Matotek, E; Fahey, MC; Christie, M; Winship, IM; Trainer, AH; James, PA
2021-08Genetic testing in dementia-A medical genetics perspective.Huq, AJ; Sexton, A; Lacaze, P; Masters, CL; Storey, E; Velakoulis, D; James, PA; Winship, IM
2022-02-01Metaphors and why these are important in all aspects of genetic counseling.Sexton, A; James, PA
2017-05Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy.Walsh, M; Bell, KM; Chong, B; Creed, E; Brett, GR; Pope, K; Thorne, NP; Sadedin, S; Georgeson, P; Phelan, DG; Day, T; Taylor, JA; Sexton, A; Lockhart, PJ; Kiers, L; Fahey, M; Macciocca, I; Gaff, CL; Oshlack, A; Yiu, EM; James, PA; Stark, Z; Ryan, MM; Melbourne Genomics Health Alliance,
2021-05-30Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16.Pakdaman, Y; Berland, S; Bustad, HJ; Erdal, S; Thompson, BA; James, PA; Power, KN; Ellingsen, S; Krooni, M; Berge, LI; Sexton, A; Bindoff, LA; Knappskog, PM; Johansson, S; Aukrust, I
2021-06-25Evaluation 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
2021-01-15The 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
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