-
Lim, SC, Friemel, M, Marum, JE, Tucker, EJ, Bruno, DL, Riley, LG, Christodoulou, J, Kirk, EP, Boneh, A, DeGennaro, CM, et al. Mutations in LYRM4, encoding iron–sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes.
Human Molecular Genetics
22(22)
:
4460 -4473
2013
view publication
-
Akesson, LS, Eggers, S, Chong, B, Hunter, MF, Krzesinski, E, Brown, NJ, Tan, TY, Richmond, C, Thorburn, DR, Christodoulou, J, et al. Rapid mitochondrial genome (MTDNA) sequencing: facilitating rapid diagnosis of mitochondrial diseases in paediatric acute care.
Pathology
51:
s118 -s119
2019
view publication
-
Stark, Z, Boughtwood, T, Phillips, P, Christodoulou, J, Hansen, DP, Braithwaite, J, Newson, AJ, Gaff, CL, Sinclair, AH, North, KN. Australian Genomics: A Federated Model for Integrating Genomics into Healthcare.
American Journal of Human Genetics
105(1)
:
7 -14
2019
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.
European Journal of Human Genetics
27(12)
:
1821 -1826
2019
view publication
-
Ilkovski, B, Pagnamenta, AT, O'Grady, GL, Kinoshita, T, Howard, MF, Lek, M, Thomas, B, Turner, A, Christodoulou, J, Sillence, D, et al. Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies.
Human Molecular Genetics
24(21)
:
6146 -6159
2015
view publication