-
Vilvarajan, S, McDonald, M, Douglas, L, Newham, J, Kirkland, R, Tzannes, G, Tay, D, Christodoulou, J, Thompson, S, Ellaway, C.
Multidisciplinary Management of Rett Syndrome: Twenty Years' Experience..
Genes (Basel)
14(8)
:
2023
view publication
-
Saffari, A, Lau, T, Tajsharghi, H, Karimiani, EG, Kariminejad, A, Efthymiou, S, Zifarelli, G, Sultan, T, Toosi, MB, Sedighzadeh, S, et al.
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders..
Brain
146(8)
:
3273 -3288
2023
view publication
-
Amarasekera, SSC, Hock, DH, Lake, NJ, Calvo, SE, Grønborg, SW, Krzesinski, EI, Amor, DJ, Fahey, MC, Simons, C, Wibrand, F, et al.
Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease..
Hum Mol Genet
32(15)
:
2441 -2454
2023
view publication
-
Teutsch, S, Zurynski, Y, Eslick, GD, Deverell, M, Christodoulou, J, Leonard, H, Dalkeith, T, Johnson, SLJ, Elliott, EJ.
Australian children living with rare diseases: health service use and barriers to accessing care..
World J Pediatr
19(7)
:
701 -709
2023
view publication
-
Lunke, S, Bouffler, SE, Patel, CV, Sandaradura, SA, Wilson, M, Pinner, J, Hunter, MF, Barnett, CP, Wallis, M, Kamien, B, et al.
Integrated multi-omics for rapid rare disease diagnosis on a national scale..
Nat Med
29(7)
:
1681 -1691
2023
view publication