Details
Role
Honorary Fellow
Top Publications
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Godler, DE, Slater, HR, Bui, QM, Ono, M, Gehling, F, Francis, D, Amor, DJ, Hopper, JL, Hagerman, R, Loesch, DZ.
FMR1 Intron 1 Methylation Predicts FMRP Expression in Blood of Female Carriers of Expanded FMR1 Alleles.
Journal of Molecular Diagnostics
13(5)
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528 -536
2011
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Tan, TY, Collins, A, James, PA, McGillivray, G, Stark, Z, Gordon, CT, Leventer, RJ, Pope, K, Forbes, R, Crolla, JA, et al.
Phenotypic variability of distal 22q11.2 copy number abnormalities.
American Journal of Medical Genetics Part A
155(7)
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1623 -1633
2011
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Loesch, DZ, Kotschet, K, Trost, N, Greco, CM, Kinsella, G, Slater, HR, Venn, A, Horne, M.
White matter changes in basis pontis in small expansion FMR1 allele carriers with parkinsonism.
American Journal of Medical Genetics Part B Neuropsychiatric Genetics
156(4)
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502 -506
2011
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Loesch, DZ, Godler, DE, Evans, A, Bui, QM, Gehling, F, Kotschet, KE, Trost, N, Storey, E, Stimpson, P, Kinsella, G, et al.
Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism.
Genetics in Medicine
13(5)
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392 -399
2011
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Godler, DE, Slater, HR, Amor, D, Loesch, DZ.
Methylation analysis of fragile X-related epigenetic elements may provide a suitable newborn screening test for fragile X syndrome.
Genetics in Medicine
12(9)
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595 -595
2010
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