-
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
-
Deverell, M, Phu, A, Elliott, EJ, Teutsch, SM, Eslick, GD, Stuart, C, Murray, S, Davis, R, Dalkeith, T, Christodoulou, J, et al.
Health-related out-of-pocket expenses for children living with rare diseases - tuberous sclerosis and mitochondrial disorders: A prospective pilot study in Australian families..
J Paediatr Child Health
58(4)
:
611 -617
2022
view publication
-
Natera-de Benito, D, Jurgens, JA, Yeung, A, Zaharieva, IT, Manzur, A, DiTroia, SP, Di Gioia, SA, Pais, L, Pini, V, Barry, BJ, et al.
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder..
Hum Mutat
43(4)
:
487 -498
2022
view publication
-
Morton, SU, Christodoulou, J, Costain, G, Muntoni, F, Wakeling, E, Wojcik, MH, French, CE, Szuto, A, Dowling, JJ, Cohn, RD, et al.
Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review..
JAMA Neurol
79(4)
:
405 -413
2022
view publication