-
Kang, Y, Anderson, AJ, Jackson, TD, Palmer, CS, De Souza, DP, Fujihara, KM, Stait, T, Frazier, AE, Clemons, NJ, Tull, D, et al.
Correction: Function of hTim8a in complex IV assembly in neuronal cells provides insight into pathomechanism underlying Mohr-Tranebjærg syndrome..
Elife
9:
2020
view publication
-
Frazier, AE, Vincent, AE, Turnbull, DM, Thorburn, DR, Taylor, RW.
Assessment of mitochondrial respiratory chain enzymes in cells and tissues..
155:
121 -156
2020
view publication
-
Thorburn, DR.
Chapter 1 The history and evolving paradigm for genomic diagnosis of mitochondrial diseases.
1 -16
2020
view publication
-
Akesson, LS, Eggers, S, Love, CJ, Chong, B, Krzesinski, EI, Brown, NJ, Tan, TY, Richmond, CM, Thorburn, DR, Christodoulou, J, et al.
Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing..
Eur J Hum Genet
27(12)
:
1821 -1826
2019
view publication
-
Rius, R, Cowley, MJ, Riley, L, Puttick, C, Thorburn, DR, Christodoulou, J.
Biparental inheritance of mitochondrial DNA in humans is not a common phenomenon..
Genet Med
21(12)
:
2823 -2826
2019
view publication