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Details

Role Research Officer
Research area Genomic Medicine

Top Publications

  • Baker, EK, Arpone, M, Aliaga, SM, Bretherton, L, Kraan, CM, Bui, M, Slater, HR, Ling, L, Francis, D, Hunter, MF, et al. Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features. Molecular Autism 10(1) : 21 2019
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  • Baker, EK, Arpone, M, Vera, SA, Bretherton, L, Ure, A, Kraan, CM, Bui, M, Ling, L, Francis, D, Hunter, MF, et al. Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome. Journal of Neurodevelopmental Disorders 11(1) : 41 2019
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  • Turner, SJ, Brown, A, Arpone, M, Anderson, V, Morgan, AT, Scheffer, IE. Dysarthria and broader motor speech deficits in Dravet syndrome. Neurology 88(8) : 743 -749 2017
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  • Hwang, YT, Aliaga, SM, Arpone, M, Francis, D, Li, X, Chong, B, Slater, HR, Rogers, C, Bretherton, L, Hunter, M, et al. Partially methylated alleles, microdeletion, and tissue mosaicism in a fragile X male with tremor and ataxia at 30 years of age: A case report. American Journal of Medical Genetics Part A 170(12) : 3327 -3332 2016
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  • Dodich, A, Cerami, C, Canessa, N, Crespi, C, Marcone, A, Arpone, M, Realmuto, S, Cappa, SF. Emotion recognition from facial expressions: a normative study of the Ekman 60-Faces Test in the Italian population. Neurological Sciences 35(7) : 1015 -1021 2014
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