-
Steinkellner, H, Kempaiah, P, Beribisky, AV, Pferschy, S, Etzler, J, Huber, A, Sarne, V, Neuhaus, W, Kuttke, M, Bauer, J, et al.
TAT-MeCP2 protein variants rescue disease phenotypes in human and mouse models of Rett syndrome..
Int J Biol Macromol
209(Pt A)
:
972 -983
2022
view publication
-
Wu, Y, Balasubramaniam, S, Rius, R, Thorburn, DR, Christodoulou, J, Goranitis, I.
Genomic sequencing for the diagnosis of childhood mitochondrial disorders: a health economic evaluation..
Eur J Hum Genet
30(5)
:
577 -586
2022
view publication
-
Tan, NB, Pagnamenta, AT, Ferla, MP, Gadian, J, Chung, BH, Chan, MC, Fung, JL, Cook, E, Guter, S, Boschann, F, et al.
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability..
J Med Genet
59(5)
:
511 -516
2022
view publication
-
Akesson, LS, Rius, R, Brown, NJ, Rosenbaum, J, Donoghue, S, Stormon, M, Chai, C, Bordador, E, Guo, Y, Hakonarson, H, et al.
Distinct diagnostic trajectories in NBAS-associated acute liver failure highlights the need for timely functional studies..
JIMD Rep
63(3)
:
240 -249
2022
view publication
-
Stephenson, SEM, Costain, G, Blok, LER, Silk, MA, Nguyen, TB, Dong, X, Alhuzaimi, DE, Dowling, JJ, Walker, S, Amburgey, K, et al.
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome..
Am J Hum Genet
109(4)
:
601 -617
2022
view publication