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Martin, EM, Zhu, Y, Kraan, CM, Kumar, KR, Godler, DE, Field, M.
Men with FMR1 premutation alleles of less than 71 CGG repeats have low risk of being affected with fragile X-associated tremor/ataxia syndrome (FXTAS)..
J Med Genet
59(7)
:
706 -709
2022
view publication
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Baker, EK, Merton, CF, Tan, W-H, Dudding-Byth, T, Godler, DE, Sadhwani, A.
Methylation analysis and developmental profile of two individuals with Angelman syndrome due to mosaic imprinting defects..
Eur J Med Genet
65(4)
:
104456
2022
view publication
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Godler, DE, Ling, L, Gamage, D, Baker, EK, Bui, M, Field, MJ, Rogers, C, Butler, MG, Murgia, A, Leonardi, E, et al.
Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow..
JAMA Netw Open
5(1)
:
e2141911
2022
view publication
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Bartlett, E, Archibald, AD, Francis, D, Ling, L, Thomas, R, Chandler, G, Ward, L, O'Farrell, G, Pandelache, A, Delatycki, MB, et al.
Paternal retraction of a fragile X allele to normal size, showing normal function over two generations..
Am J Med Genet A
188(1)
:
304 -309
2022
view publication
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Godler, DE, Butler, MG.
Special Issue: Genetics of Prader-Willi Syndrome..
Genes (Basel)
12(9)
:
2021
view publication