-
Poquérusse, J, Nolan, M, Thorburn, DR, Van Hove, JLK, Friederich, MW, Love, DR, Taylor, J, Powell, CA, Minczuk, M, Snell, RG, et al. Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2‐related mitochondrial disease.
2023
view publication
-
Lake, NJ, Liu, W, Battle, SL, Laricchia, KM, Tiao, G, Puiu, D, Compton, AG, Cowie, S, Christodoulou, J, Thorburn, DR, et al. Quantifying constraint in the human mitochondrial genome.
2022
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.
Nature Communications
14(1)
:
1009
2023
view publication
-
Thompson, K, Stroud, DA, Thorburn, DR, Taylor, RW. Chapter 9 Investigation of oxidative phosphorylation activity and complex composition in mitochondrial disease.
194:
127 -139
2023
view publication
-
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.
American Journal of Human Genetics
110(3)
:
419 -426
2023
view publication