Details
Role
Clinical Geneticist
Group
Clinical Services
Top Publications
-
Rafehi, H, Read, J, Szmulewicz, DJ, Davies, KC, Snell, P, Fearnley, LG, Scott, L, Thomsen, M, Gillies, G, Pope, K, et al.
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.
American Journal of Human Genetics
110(1)
:
105 -119
2023
view publication
-
Vogel, AP, Maruff, P, Reece, H, Carter, H, Tai, G, Schultz, BG, Corben, L, Delatycki, MB, Tsanas, A.
Clinically meaningful metrics of speech in neurodegenerative disease: Quantification of speech intelligibility and naturalness in ataxia.
2023
view publication
-
Milne, SC, Kim, SH, Murphy, A, Larkindale, J, Farmer, J, Malapira, R, Danoudis, M, Shaw, J, Ramakrishnan, T, Rasouli, F, et al.
The Responsiveness of Gait and Balance Outcomes to Disease Progression in Friedreich Ataxia.
The Cerebellum
21(6)
:
963 -975
2022
view publication
-
Leibowitz, R, Lewis, S, Emery, J, Massie, J, Smith, M, Delatycki, M, Archibald, A.
Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome and spinal muscular atrophy: patterns of community and healthcare provider participation in a Victorian screening program.
Australian Journal of Primary Health
28(6)
:
580 -587
2022
view publication
-
Freeman, L, Delatycki, MB, Scully, JL, Kirk, EP.
Views of reproductive genetic carrier screening participants regarding screening for genes associated with nonâsyndromic hearing loss.
Prenatal Diagnosis
42(13)
:
1658 -1666
2022
view publication
