Details
Role
Clinical Geneticist
Group
Clinical Services
Top Publications
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Rafehi, H, Read, J, Szmulewicz, DJ, Davies, KC, Snell, P, Fearnley, LG, Scott, L, Thomsen, M, Gillies, G, Pope, K, et al.
A novel intronic GAA repeat expansion in FGF14 causes autosomal dominant adult-onset ataxia (SCA50, ATX-FGF14).
2023
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Corben, LA, Collins, V, Milne, S, Farmer, J, Musheno, A, Lynch, D, Subramony, S, Pandolfo, M, Schulz, JB, Lin, K, et al.
Clinical management guidelines for Friedreich ataxia: best practice in rare diseases.
Orphanet Journal of Rare Diseases
17(1)
:
415
2023
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Archibald, AD, McClaren, BJ, Caruana, J, Tutty, E, King, EA, Halliday, JL, Best, S, Kanga-Parabia, A, Bennetts, BH, Cliffe, CC, et al.
The Australian Reproductive Genetic Carrier Screening Project (Mackenzie’s Mission): Design and Implementation.
Journal of Personalized Medicine
12(11)
:
1781
2023
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Freeman, L, Delatycki, MB, Scully, JL, Kirk, EP.
Response to Li and Sun.
Genetics in Medicine
25(1)
:
157
2023
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Georgiou-Karistianis, N, Corben, LA, Reetz, K, Adanyeguh, IM, Corti, M, Deelchand, DK, Delatycki, MB, Dogan, I, Evans, R, Farmer, J, et al.
A natural history study to track brain and spinal cord changes in individuals with Friedreich’s ataxia: TRACK-FA study protocol.
PLOS ONE
17(11)
:
e0269649
2023
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