-
Stark, Z, Boughtwood, T, Haas, M, Braithwaite, J, Gaff, CL, Goranitis, I, Spurdle, AB, Hansen, DP, Hofmann, O, Laing, N, et al.
Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare..
Am J Hum Genet
110(3)
:
419 -426
2023
view publication
-
Van Haute, L, O'Connor, E, Díaz-Maldonado, H, Munro, B, Polavarapu, K, Hock, DH, Arunachal, G, Athanasiou-Fragkouli, A, Bardhan, M, Barth, M, et al.
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease..
Nat Commun
14(1)
:
1009
2023
view publication
-
Thompson, K, Stroud, DA, Thorburn, DR, Taylor, RW.
Investigation of oxidative phosphorylation activity and complex composition in mitochondrial disease..
Handb Clin Neurol
194:
127 -139
2023
view publication
-
Rius, R, Bennett, NK, Bhattacharya, K, Riley, LG, Yüksel, Z, Formosa, LE, Compton, AG, Dale, RC, Cowley, MJ, Gayevskiy, V, et al.
Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy..
Hum Mutat
43(12)
:
1970 -1978
2022
view publication
-
Baker, MJ, Crameri, JJ, Thorburn, DR, Frazier, AE, Stojanovski, D.
Mitochondrial biology and dysfunction in secondary mitochondrial disease..
Open Biol
12(12)
:
220274
2022
view publication