Details
Role
Clinical Geneticist
Group
Clinical Services
Top Publications
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Bruno, DL, Anderlid, B-M, Lindstrand, A, van Ravenswaaij-Arts, C, Ganesamoorthy, D, Lundin, J, Martin, CL, Douglas, J, Nowak, C, Adam, MP, et al.
Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.
Journal of Medical Genetics
47(5)
:
299
2010
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Corben, LA, Delatycki, MB, Bradshaw, JL, Horne, MK, Fahey, MC, Churchyard, AJ, Georgiou-Karistianis, N.
Impairment in motor reprogramming in Friedreich ataxia reflecting possible cerebellar dysfunction.
Journal of Neurology
257(5)
:
782 -791
2010
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Wilson, GR, Sim, ML-J, Brody, KM, Taylor, JM, McLachlan, RI, O'Bryan, MK, Delatycki, MB, Lockhart, PJ.
Molecular analysis of the PArkin co-regulated gene and association with male infertility.
Fertility and Sterility
93(7)
:
2262 -2268
2010
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Wilson, GR, Wang, HX, Egan, GF, Robinson, PJ, Delatycki, MB, O'Bryan, MK, Lockhart, PJ.
Deletion of the Parkin co-regulated gene causes defects in ependymal ciliary motility and hydrocephalus in the quakingviable mutant mouse.
Human Molecular Genetics
19(8)
:
1593 -1602
2010
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Corben, LA, Tai, G, Wilson, C, Collins, V, Churchyard, AJ, Delatycki, MB.
A comparison of three measures of upper limb function in Friedreich ataxia.
Journal of Neurology
257(4)
:
518 -523
2010
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