-
Wallis, MJ, Boys, A, Tassano, E, Delatycki, MB.
Small interstitial 9p24.3 deletions principally involving KANK1 are likely benign copy number variants..
Eur J Med Genet
63(1)
:
103618
2020
view publication
-
Lynch, DR, Chin, MP, Delatycki, M, Subramony, SH, Hoyle, JC, Boesch, S, Nachbauer, W, Mariotti, C, Mathews, KD, Giunti, P, et al.
Safety and Efficacy of Omaveloxolone in Friedreich's Ataxia (MOXIe Study): A Multicentre, Randomised, Double-Blind, Placebo-Controlled Trial.
2020
view publication
-
Tan, TY, Lunke, S, Chong, B, Phelan, D, Fanjul-Fernandez, M, Marum, JE, Kumar, VS, Stark, Z, Yeung, A, Brown, NJ, et al.
A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis..
Eur J Hum Genet
27(12)
:
1791 -1799
2019
view publication
-
Rummey, C, Corben, LA, Delatycki, MB, Subramony, SH, Bushara, K, Gomez, CM, Hoyle, JC, Yoon, G, Ravina, B, Mathews, KD, et al.
Psychometric properties of the Friedreich Ataxia Rating Scale..
Neurol Genet
5(6)
:
371
2019
view publication
-
Delatycki, MB, Bidichandani, SI.
Friedreich ataxia- pathogenesis and implications for therapies..
Neurobiol Dis
132:
104606
2019
view publication