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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)
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511 -514
2017
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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..
Am J Med Genet A
173(3)
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820 -823
2017
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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..
Neurol Genet
2(6)
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e114
2016
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Wan, J, Steffen, J, Yourshaw, M, Mamsa, H, Andersen, E, Rudnik-Schöneborn, S, Pope, K, Howell, KB, McLean, CA, Kornberg, AJ, et al.
Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia..
Brain
139(11)
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2877 -2890
2016
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Phelan, DG, Anderson, DJ, Howden, SE, Wong, RCB, Hickey, PF, Pope, K, Wilson, GR, Pébay, A, Davis, AM, Petrou, S, et al.
ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathy..
Eur Heart J
37(33)
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2586 -2590
2016
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