-
Baker, EK, Arpone, M, Aliaga, SM, Bretherton, L, Kraan, CM, Bui, M, Slater, HR, Ling, L, Francis, D, Hunter, MF, et al. Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features.
Molecular Autism
10(1)
:
21
2019
view publication
-
Godler, DE, Christodoulou, J, Bruno, D, Li, X, Inaba, Y, Bui, QM, Francis, D, Elliot, J, Wotton, T, Cohen, J, et al. The use of droplet digital PCR and high resolution melt for detection of low level mosaicism.
Pathology
50:
s30
2018
view publication
-
Baker, EK, Arpone, M, Kraan, C, Bui, M, Rogers, C, Field, M, Bretherton, L, Ling, L, Ure, A, Cohen, J, et al. FMR1 mRNA from full mutation alleles is associated with ABC-CFX scores in males with fragile X syndrome.
Scientific Reports
10(1)
:
11701
2020
view publication
-
Shepherd, DA, Vos, N, Reid, SM, Godler, DE, Guzys, A, Moreno-Betancur, M, Amor, DJ. Growth Trajectories in Genetic Subtypes of Prader–Willi Syndrome.
Genes
11(7)
:
736
2020
view publication
-
Baker, EK, Butler, MG, Hartin, SN, Ling, L, Bui, M, Francis, D, Rogers, C, Field, MJ, Slee, J, Gamage, D, et al. Relationships between UBE3A and SNORD116 expression and features of autism in chromosome 15 imprinting disorders.
Translational Psychiatry
10(1)
:
362
2020
view publication