-
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..
Nat Genet
49(4)
:
511 -514
2017
view publication
-
Warne, CD, Zaloumis, SG, Bertalli, NA, Delatycki, MB, Nicoll, AJ, McLaren, CE, Hopper, JL, Giles, GG, Anderson, GJ, Olynyk, JK, et al.
HFE p.C282Y homozygosity predisposes to rapid serum ferritin rise after menopause: A genotype-stratified cohort study of hemochromatosis in Australian women..
J Gastroenterol Hepatol
32(4)
:
797 -802
2017
view publication
-
Stessman, HAF, Xiong, B, Coe, BP, Wang, T, Hoekzema, K, Fenckova, M, Kvarnung, M, Gerdts, J, Trinh, S, Cosemans, N, et al.
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases..
Nat Genet
49(4)
:
515 -526
2017
view publication
-
Vogel, AP, Wardrop, MI, Folker, JE, Synofzik, M, Corben, LA, Delatycki, MB, Awan, SN.
Voice in Friedreich Ataxia..
J Voice
31(2)
:
243.e9 -243.e19
2017
view publication
-
Leventer, RJ, Scerri, T, Marsh, APL, Maixner, W, MacGregor, D, Harvey, AS, Delatycki, MB, Amor, DJ, Bahlo, M, Lockhart, PJ.
Investigating the role of somatic mutations in malformations of brain development.
Pathology
49:
s33
2017
view publication