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Details

Role Honorary Fellow
Research area Genomic Medicine

Top Publications

  • Yeung, A, Bruno, D, Scheffer, IE, Carranza, D, Burgess, T, Slater, HR, Amor, DJ. 4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment. European Journal of Medical Genetics 52(6) : 440 -442 2009
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  • Loesch, D, Khaniani, Slater, H, Rubio, J, Bui, Q, Kotschet, K, D’Souza, W, Venn, A, Kalitsis, P, Choo, A, et al. Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism. Clinical Genetics 76(5) : 471 -476 2009
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  • Loesch, DZ, Godler, DE, Khaniani, M, Gould, E, Gehling, F, Dissanayake, C, Burgess, T, Tassone, F, Huggins, R, Slater, H, et al. Linking the FMR1 alleles with small CGG expansions with neurodevelopmental disorders: Preliminary data suggest an involvement of epigenetic mechanisms. American Journal of Medical Genetics Part A 149A(10) : 2306 -2310 2009
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  • Ganesamoorthy, D, Bruno, DL, Schoumans, J, Storey, E, Delatycki, MB, Zhu, D, Wei, MK, Nicholson, GA, McKinlay Gardner, RJ, Slater, HR. Development of a Multiplex Ligation-Dependent Probe Amplification Assay for Diagnosis and Estimation of the Frequency of Spinocerebellar Ataxia Type 15. Clinical Chemistry 55(7) : 1415 -1418 2009
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  • Cardoso, C, Boys, A, Parrini, E, Mignon-Ravix, C, McMahon, JM, Khantane, S, Bertini, E, Pallesi, E, Missirian, C, Zuffardi, O, et al. Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletionSYMBOL. Neurology 72(9) : 784 -792 2009
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