Details
Role
Clinical Geneticist
Group
Clinical Services
Top Publications
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Bozaoglu, K, Gao, Y, Stanley, E, Fanjul-Fernández, 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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