Details
Role
Clinical Geneticist
Group
Clinical Services
Top Publications
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Beecroft, SJ, McLean, CA, Delatycki, MB, Koshy, K, Yiu, E, Haliloglu, G, Orhan, D, Lamont, PJ, Davis, MR, Laing, NG, et al.
Expanding the phenotypic spectrum associated with mutations of DYNC1H1.
Neuromuscular Disorders
27(7)
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607 -615
2017
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Tai, G, Corben, LA, Yiu, EM, Delatycki, MB.
A longitudinal study of the SF‐36 version 2 in Friedreich ataxia.
Acta Neurologica Scandinavica
136(1)
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41 -46
2017
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Huq, AJ, Pertile, MD, Davis, AM, Landon, H, James, PA, Kline, CF, Vohra, J, Mohler, PJ, Delatycki, MB.
A Novel Mechanism for Human Cardiac Ankyrin-B Syndrome due to Reciprocal Chromosomal Translocation.
Heart Lung and Circulation
26(6)
:
612 -618
2017
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Crombie, DE, Curl, CL, Raaijmakers, AJ, Sivakumaran, P, Kulkarni, T, Wong, RC, Minami, I, Evans-Galea, MV, Lim, SY, Delbridge, L, et al.
Friedreich's ataxia induced pluripotent stem cell-derived cardiomyocytes display electrophysiological abnormalities and calcium handling deficiency.
Aging
9(5)
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1440 -1449
2017
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Marsh, APL, Heron, D, Edwards, TJ, Quartier, A, Galea, C, Nava, C, Rastetter, A, Moutard, M-L, Anderson, V, Bitoun, P, et al.
Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance.
Nature Genetics
49(4)
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511 -514
2017
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