-
Krishnaraj, R, Haase, F, Coorey, B, Luca, EJ, Wong, I, Boyling, A, Ellaway, C, Christodoulou, J, Gold, WA.
Front Cover, Volume 40, Issue 12.
Human Mutation
40(12)
:
i -i
2019
view publication
-
Rius, R, Van Bergen, NJ, Compton, AG, Riley, LG, Kava, MP, Balasubramaniam, S, Amor, DJ, Fanjul-Fernandez, M, Cowley, MJ, Fahey, MC, et al.
Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants..
J Clin Med
8(11)
:
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..
Am J Hum Genet
105(1)
:
7 -14
2019
view publication
-
Lake, NJ, Formosa, LE, Stroud, DA, Ryan, MT, Calvo, SE, Mootha, VK, Morar, B, Procopis, PG, Christodoulou, J, Compton, AG, et al.
A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variant..
Hum Mutat
40(7)
:
893 -898
2019
view publication
-
Balasubramaniam, S, Christodoulou, J, Rahman, S.
Disorders of riboflavin metabolism..
J Inherit Metab Dis
42(4)
:
608 -619
2019
view publication