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Significantly Elevated FMR1 mRNA and Mosaicism for Methylated Premutation and Full Mutation Alleles in Two Brothers with Autism Features Referred for Fragile X Testing.
International Journal of Molecular Sciences
20(16)
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2024
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Arpone, M, Baker, EK, Bretherton, L, Bui, M, Li, X, Whitaker, S, Dissanayake, C, Cohen, J, Hickerton, C, Rogers, C, et al.
Intragenic DNA methylation in buccal epithelial cells and intellectual functioning in a paediatric cohort of males with fragile X.
Scientific Reports
8(1)
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2024
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Hwang, YT, Dudding, T, Aliaga, SM, Arpone, M, Francis, D, Li, X, Slater, HR, Rogers, C, Bretherton, L, du Sart, D, et al.
Molecular Inconsistencies in a Fragile X Male with Early Onset Ataxia.
Genes
7(9)
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68
2024
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Pandelache, A, Baker, EK, Aliaga, SM, Arpone, M, Forbes, R, Stark, Z, Francis, D, Godler, DE.
Clinical and Molecular Differences between 4-Year-Old Monozygous Male Twins Mosaic for Normal, Premutation and Fragile X Full Mutation Alleles.
Genes
10(4)
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279
2024
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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)
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11701
2024
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