-
Kelada, L, Wakefield, C, Vidic, N, Armstrong, DS, Bennetts, B, Boggs, K, Christodoulou, J, Harrison, J, Ho, G, Kapur, N, et al.
Genomic testing for children with interstitial and diffuse lung disease (chILD): parent satisfaction, understanding and health-related quality of life..
BMJ Open Respir Res
9(1)
:
2022
view publication
-
Van Bergen, NJ, Hock, DH, Spencer, L, Massey, S, Stait, T, Stark, Z, Lunke, S, Roesley, A, Peters, H, Lee, JY, et al.
Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function..
Int J Mol Sci
23(2)
:
2022
view publication
-
Levy, MA, McConkey, H, Kerkhof, J, Barat-Houari, M, Bargiacchi, S, Biamino, E, Bralo, MP, Cappuccio, G, Ciolfi, A, Clarke, A, et al.
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders..
HGG Adv
3(1)
:
100075
2022
view publication
-
Sue, CM, Balasubramaniam, S, Bratkovic, D, Bonifant, C, Christodoulou, J, Coman, D, Crawley, K, Edema-Hildebrand, F, Ellaway, C, Ghaoui, R, et al.
Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations..
Intern Med J
52(1)
:
110 -120
2022
view publication
-
Riley, LG, Nafisinia, M, Menezes, MJ, Nambiar, R, Williams, A, Barnes, EH, Selvanathan, A, Lichkus, K, Bratkovic, D, Yaplito-Lee, J, et al.
FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in children..
Mol Genet Metab
135(1)
:
63 -71
2022
view publication