-
Hildebrand, MS, Harvey, AS, Malone, S, Damiano, JA, Do, H, Ye, Z, McQuillan, L, Maixner, W, Kalnins, R, Nolan, B, et al.
Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome.
Neurology Genetics
4(3)
:
&na
2018
view publication
-
Walsh, M, Bell, KM, Chong, B, Creed, E, Brett, GR, Pope, K, Thorne, NP, Sadedin, S, Georgeson, P, Phelan, DG, et al.
Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy.
Annals of Clinical and Translational Neurology
4(5)
:
318 -325
2017
view publication
-
Marsh, APL, Heron, D, Edwards, TJ, Quartier, A, Galea, C, Nava, C, Rastetter, A, Moutard, M-L, Anderson, V, Bitoun, P, et al.
Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance.
Nature Genetics
49(4)
:
511 -514
2017
view publication
-
Marsh, APL, Yap, P, Tan, T, Pope, K, White, SM, Chong, B, Mcgillivray, G, Boys, A, Stephenson, SEM, Leventer, RJ, et al.
A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9.
American Journal of Medical Genetics Part A
173(3)
:
820 -823
2017
view publication
-
Amor, DJ, Marsh, APL, Storey, E, Tankard, R, Gillies, G, Delatycki, MB, Pope, K, Bromhead, C, Leventer, RJ, Bahlo, M, et al.
Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency.
Neurology Genetics
2(6)
:
&na
2016
view publication