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Details

Role Clinical Geneticist
Group Clinical Services

Top Publications

  • Bozaoglu, K, Gao, Y, Stanley, E, Fanjul-Fern├índez, M, Brown, NJ, Pope, K, Green, CC, Vlahos, K, Sourris, K, Bahlo, M, et al. Generation of seven iPSC lines from peripheral blood mononuclear cells suitable to investigate Autism Spectrum Disorder. Stem Cell Research 39: 101516 2019
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  • Rafehi, H, Szmulewicz, DJ, Bennett, MF, Sobreira, NLM, Pope, K, Smith, KR, Gillies, G, Diakumis, P, Dolzhenko, E, Eberle, MA, et al. Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS. American Journal of Human Genetics 105(1) : 151 -165 2019
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  • Nguyen, KD, Corben, LA, Pathirana, PN, Horne, MK, Delatycki, MB, Szmulewicz, DJ. An Instrumented Measurement Scheme for the Assessment of Upper Limb Function in Individuals with Friedreich Ataxia. Annual International Conference of the IEEE Engineering in Medicine and Biology Society (EMBC) 00: 317 -320 2019
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  • Corben, LA, Yiu, EM, Tai, G, Milne, SC, Lynch, B, Delatycki, MB. Probing the multifactorial source of hand dysfunction in Friedreich ataxia. Journal of Clinical Neuroscience 64: 71 -76 2019
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  • Catford, SR, O'Bryan, MK, McLachlan, RI, Delatycki, MB, Rombauts, L. Germ cell arrest associated with aSETX mutation in ataxia oculomotor apraxia type 2. Reproductive BioMedicine Online 38(6) : 961 -965 2019
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