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Marsh, APL, Lukic, V, Pope, K, Bromhead, C, Tankard, R, Ryan, MM, Yiu, EM, Sim, JCH, Delatycki, MB, Amor, DJ, et al.
Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss.
Neurology Genetics
1(2)
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&na
2015
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Morgan, AT, Mei, C, Da Costa, A, Fifer, J, Lederer, D, Benoit, V, McMillin, MJ, Buckingham, KJ, Bamshad, MJ, Pope, K, et al.
Speech and language in a genotyped cohort of individuals with Kabuki syndrome.
American Journal of Medical Genetics Part A
167(7)
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1483 -1492
2015
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Leventer, RJ, Scerri, T, Marsh, APL, Pope, K, Gillies, G, Maixner, W, MacGregor, D, Harvey, AS, Delatycki, MB, Amor, DJ, et al.
Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR.
Neurology
84(20)
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2029 -2032
2015
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Scerri, T, Riseley, JR, Gillies, G, Pope, K, Burgess, R, Mandelstam, SA, Dibbens, L, Chow, CW, Maixner, W, Harvey, AS, et al.
Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5.
Annals of Clinical and Translational Neurology
2(5)
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575 -580
2015
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Sim, JCH, White, SM, Fitzpatrick, E, Wilson, GR, Gillies, G, Pope, K, Mountford, HS, Torring, PM, McKee, S, Vulto-van Silfhout, AT, et al.
Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency.
Orphanet Journal of Rare Diseases
9(1)
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43
2014
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