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Details

Role Group Leader / Snr Princ Research Fellow
Research area Genomic Medicine

Top Publications

  • Holm, A, Sanchez, K, Crosbie, S, Morgan, A, Dodd, B. Is children’s speech development changing? Preliminary evidence from Australian English-speaking 3-year-olds. International Journal of Speech-Language Pathology 24(4) : 375 -384 2022
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  • Morison, LD, Braden, RO, Amor, DJ, Brignell, A, van Bon, BWM, Morgan, AT. Social motivation a relative strength in DYRK1A syndrome on a background of significant speech and language impairments. European Journal of Human Genetics 30(7) : 800 -811 2022
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  • Rouxel, F, Relator, R, Kerkhof, J, McConkey, H, Levy, M, Dias, P, Barat-Houari, M, Bednarek, N, Boute, O, Chatron, N, et al. CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature. Genetics in Medicine 24(5) : 1096 -1107 2022
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  • Thompson-Lake, DGY, Scerri, TS, Block, S, Turner, SJ, Reilly, S, Kefalianos, E, Bonthrone, AF, Helbig, I, Bahlo, M, Scheffer, IE, et al. Atypical development of Broca's area in a large family with inherited stuttering.. Brain 145(3) : 1177 -1188 2022
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  • Stephenson, SEM, Costain, G, Blok, LER, Silk, MA, Nguyen, TB, Dong, X, Alhuzaimi, DE, Dowling, JJ, Walker, S, Amburgey, K, et al. Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome. American Journal of Human Genetics 109(4) : 601 -617 2022
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