-
Trevis, KJ, Brown, NJ, Green, C, Lockhart, P, Hickey, P, Fanjul-Fernández, M, Bromhead, C, Desai, T, Vick, T, Gillies, G, et al.
Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism Phenotype.
659722
2024
view publication
-
Rafehi, H, Szmulewicz, DJ, Bennett, MF, Sobreira, NL, Pope, K, Smith, KR, Gillies, G, Diakumis, P, Dolzhenko, E, Eberle, MA, et al.
Validation of new bioinformatic tools to identify expanded repeats: a non-reference intronic pentamer expansion in RFC1 causes CANVAS.
2024
view publication
-
Rafehi, H, Read, J, Szmulewicz, DJ, Davies, KC, Snell, P, Fearnley, LG, Scott, L, Thomsen, M, Gillies, G, Pope, K, et al.
A novel intronic GAA repeat expansion in FGF14 causes autosomal dominant adult-onset ataxia (SCA50, ATX-FGF14).
2024
view publication
-
Rafehi, H, Read, J, Szmulewicz, DJ, Davies, KC, Snell, P, Fearnley, LG, Scott, L, Thomsen, M, Gillies, G, Pope, K, et al.
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14..
Am J Hum Genet
110(1)
:
105 -119
2023
view publication
-
Rafehi, H, Green, C, Bozaoglu, K, Gillies, G, Delatycki, MB, Lockhart, PJ, Scheffer, IE, Bahlo, M.
Unexpected diagnosis of myotonic dystrophy type 2 repeat expansion by genome sequencing..
Eur J Hum Genet
31(1)
:
122 -124
2023
view publication