Details
Role
Honorary Fellow
Top Publications
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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
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Whitlam, JB, Ling, L, Swain, M, Harrington, T, Mirochnik, O, Brooks, I, Cronin, S, Challis, J, Petrovic, V, Bruno, DL, et al.
Use of ubiquitous, highly heterozygous copy number variants and digital droplet polymerase chain reaction to monitor chimerism after allogeneic haematopoietic stem cell transplantation.
Experimental Hematology
49:
39 -47.e5
2017
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Hwang, YT, Aliaga, SM, Arpone, M, Francis, D, Li, X, Chong, B, Slater, HR, Rogers, C, Bretherton, L, Hunter, M, et al.
Partially methylated alleles, microdeletion, and tissue mosaicism in a fragile X male with tremor and ataxia at 30 years of age: A case report.
American Journal of Medical Genetics Part A
170(12)
:
3327 -3332
2016
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Shelton, AL, Cornish, KM, Kolbe, S, Clough, M, Slater, HR, Li, X, Kraan, CM, Bui, QM, Godler, DE, Fielding, J.
Brain structure and intragenic DNA methylation are correlated, and predict executive dysfunction in fragile X premutation females.
Translational Psychiatry
6(12)
:
e984 -e984
2016
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Cotter, M, Archibald, AD, McClaren, BJ, Burgess, T, Francis, D, Hills, L, Martyn, M, Oertel, R, Slater, H, Cohen, J, et al.
Clinical audit of genetic testing and referral patterns for fragile X and associated conditions.
American Journal of Medical Genetics Part A
170(6)
:
1439 -1449
2016
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