-
Kline, BL, Jaillard, S, Bell, KM, Bakhshalizadeh, S, Robevska, G, van den Bergen, J, Dulon, J, Ayers, KL, Christodoulou, J, Tchan, MC, et al.
Integral Role of the Mitochondrial Ribosome in Supporting Ovarian Function: MRPS7 Variants in Syndromic Premature Ovarian Insufficiency..
Genes (Basel)
13(11)
:
2022
view publication
-
Tudini, E, Andrews, J, Lawrence, DM, King-Smith, SL, Baker, N, Baxter, L, Beilby, J, Bennetts, B, Beshay, V, Black, M, et al.
Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation..
Am J Hum Genet
109(11)
:
1960 -1973
2022
view publication
-
Van Bergen, NJ, Walvekar, AS, Patraskaki, M, Sikora, T, Linster, CL, Christodoulou, J.
Clinical and biochemical distinctions for a metabolite repair disorder caused by NAXD or NAXE deficiency..
J Inherit Metab Dis
45(6)
:
1028 -1038
2022
view publication
-
Levy, MA, Relator, R, McConkey, H, Pranckeviciene, E, Kerkhof, J, Barat-Houari, M, Bargiacchi, S, Biamino, E, Palomares Bralo, M, Cappuccio, G, et al.
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders..
Hum Mutat
43(11)
:
1609 -1628
2022
view publication
-
Temple, SEL, Ho, G, Bennetts, B, Boggs, K, Vidic, N, Mowat, D, Christodoulou, J, Schultz, A, Gayagay, T, Roscioli, T, et al.
The role of exome sequencing in childhood interstitial or diffuse lung disease..
Orphanet J Rare Dis
17(1)
:
350
2022
view publication