-
Read, JL, Davies, KC, Thompson, GC, Delatycki, MB, Lockhart, PJ.
Challenges facing repeat expansion identification, characterisation, and the pathway to discovery..
Emerg Top Life Sci
7(3)
:
339 -348
2023
view publication
-
Smolen, C, Jensen, M, Dyer, L, Pizzo, L, Tyryshkina, A, Banerjee, D, Rohan, L, Huber, E, El Khattabi, L, Prontera, P, et al.
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants..
Am J Hum Genet
110(12)
:
2015 -2028
2023
view publication
-
Lee, WS, Lockhart, PJ.
Utility of droplet digital polymerase chain reaction for studying somatic mosaicism: brain malformations and beyond..
Neural Regen Res
18(11)
:
2389 -2390
2023
view publication
-
Lee, WS, Macdonald-Laurs, E, Stephenson, S, D'Arcy, C, Maixner, W, Harvey, AS, Lockhart, PJ, Leventer, RJ.
Pathogenic RHEB Somatic Variant in a Child With Tuberous Sclerosis Complex Without Pathogenic Variants in TSC1 or TSC2..
Neurology
101(2)
:
78 -82
2023
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 SCA27B/ATX-FGF14..
Am J Hum Genet
110(6)
:
1018
2023
view publication