-
Rafehi, H, Szmulewicz, DJ, Bennett, MF, Sobreira, NLM, Pope, K, Smith, KR, Gillies, G, Diakumis, P, Dolzhenko, E, Eberle, MA, et al.
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS..
Am J Hum Genet
105(1)
:
151 -165
2019
view publication
-
Lee, WS, Stephenson, SEM, Howell, KB, Pope, K, Gillies, G, Wray, A, Maixner, W, Mandelstam, SA, Berkovic, SF, Scheffer, IE, et al.
Second-hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA..
Ann Clin Transl Neurol
6(7)
:
1338 -1344
2019
view publication
-
Stephenson, SE, Djaldetti, R, Rafehi, H, Wilson, GR, Gillies, G, Bahlo, M, Lockhart, PJ.
Familial early onset Parkinson's disease caused by a homozygous frameshift variant in PARK7: Clinical features and literature update..
Parkinsonism Relat Disord
64:
308 -311
2019
view publication
-
Amor, DJ, Stephenson, SEM, Mustapha, M, Mensah, MA, Ockeloen, CW, Lee, WS, Tankard, RM, Phelan, DG, Shinawi, M, de Brouwer, APM, et al.
Pathogenic Variants in GPC4 Cause Keipert Syndrome..
Am J Hum Genet
104(5)
:
914 -924
2019
view publication
-
Lenk, GM, Berry, IR, Stutterd, CA, Blyth, M, Green, L, Vadlamani, G, Warren, D, Craven, I, Fanjul-Fernandez, M, Rodriguez-Casero, V, et al.
Cerebral hypomyelination associated with biallelic variants of FIG4..
Hum Mutat
40(5)
:
619 -630
2019
view publication