-
Long, JC, Best, S, Nic Giolla Easpaig, B, Hatem, S, Fehlberg, Z, Christodoulou, J, Braithwaite, J.
Needs of people with rare diseases that can be supported by electronic resources: a scoping review..
BMJ Open
12(9)
:
e060394
2022
view publication
-
Van Bergen, NJ, Massey, S, Quigley, A, Rollo, B, Harris, AR, Kapsa, RMI, Christodoulou, J.
CDKL5 deficiency disorder: molecular insights and mechanisms of pathogenicity to fast-track therapeutic development..
Biochem Soc Trans
50(4)
:
1207 -1224
2022
view publication
-
Davis, RL, Kumar, KR, Puttick, C, Liang, C, Ahmad, KE, Edema-Hildebrand, F, Park, J-S, Minoche, AE, Gayevskiy, V, Mallawaarachchi, AC, et al.
Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis..
Neurology
99(7)
:
e730 -e742
2022
view publication
-
Cloney, T, Gallacher, L, Pais, LS, Tan, NB, Yeung, A, Stark, Z, Brown, NJ, McGillivray, G, Delatycki, MB, de Silva, MG, et al.
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program..
J Med Genet
59(8)
:
748 -758
2022
view publication
-
McKnight, D, Bean, L, Karbassi, I, Beattie, K, Bienvenu, T, Bonin, H, Fang, P, Chrisodoulou, J, Friez, M, Helgeson, M, et al.
Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methods..
Hum Mutat
43(8)
:
1097 -1113
2022
view publication