-
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)
:
43
2014
view publication
-
Wilson, GR, Sim, JCH, McLean, C, Giannandrea, M, Galea, CA, Riseley, JR, Stephenson, SEM, Fitzpatrick, E, Haas, SA, Pope, K, et al.
Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology.
American Journal of Human Genetics
95(6)
:
729 -735
2014
view publication
-
Smith, KR, Leventer, RJ, Mackay, MT, Pope, K, Gillies, G, Delatycki, MB, Amor, DJ, Bahlo, M, Lockhart, PJ.
K. R. Smith et al..
International Journal of Stroke
9(6)
:
e26 -e27
2014
view publication
-
Phelan, D, Wilson, G, Pope, K, Gillies, G, Sim, J, Bahlo, M, Hickey, P, Bromhead, C, James, P, du Sart, D, et al.
Identification and characterisation of a novel gene for cardiomyopathy.
Pathology
46:
s91 -s92
2014
view publication
-
Nikkel, SM, Dauber, A, de Munnik, S, Connolly, M, Hood, RL, Caluseriu, O, Hurst, J, Kini, U, Nowaczyk, MJM, Afenjar, A, et al.
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.
Orphanet Journal of Rare Diseases
8(1)
:
63
2013
view publication