-
Steinkellner, H, Beribisky, AV, Mausberg, P, Christodoulou, J, Scheiber-Mojdehkar, B, Huber, A, Sarne, V, Laccone, F.
An Electrochemiluminescence-Based Assay for MeCP2 Protein Variants.
Journal of Visualized Experiments
2024
view publication
-
Byrne, A, Azmanov, D, Chai, S, Christodoulou, J, Haas, M, Kassahn, K, Lundie, B, Lunke, S, Stott, A, Thompson, B, et al.
P534: Piloting an Australian quality assurance program interpretive module for genomic testing.
Genetics in Medicine Open
2:
101433
2024
view publication
-
AlMail, A, Jamjoom, A, Pan, A, Feng, A, Chau, V, D'Gama, A, Howell, K, Liang, NSY, McTague, A, Poduri, A, et al.
P249: Gaps in the phenotype descriptions of ultra-rare genetic conditions: Review and multi-center consensus reporting guidelines.
Genetics in Medicine Open
2:
101145
2024
view publication
-
Elvidge, KL, Christodoulou, J, Farrar, MA, Tilden, D, Maack, M, Valeri, M, Ellis, M, Smith, NJ, Group, CDW.
Childhood dementia: the collective impact and opportunities for intervention.
Alzheimer's & Dementia
19(S24)
:
2023
view publication
-
Elvidge, KL, Christodoulou, J, Farrar, MA, Tilden, D, Maack, M, Valeri, M, Ellis, M, Smith, NJC, Childhood Dementia Working Group.
The collective burden of childhood dementia: a scoping review..
Brain
146(11)
:
4446 -4455
2023
view publication