Details
Role
Honorary Fellow
Top Publications
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Aliaga, SM, Slater, HR, Francis, D, Du Sart, D, Li, X, Amor, DJ, Alliende, AM, Santa Maria, L, Faundes, V, Morales, P, et al.
Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt Analysis..
Clinical Chemistry
62(2)
:
343 -352
2016
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Stark, Z, Francis, D, Gaffney, L, Greenberg, J, Hills, L, Li, X, Godler, DE, Slater, HR.
Prenatal diagnosis of fragile X syndrome complicated by full mutation retraction.
American Journal of Medical Genetics Part A
167(10)
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2485 -2487
2015
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Cornish, KM, Kraan, CM, Bui, QM, Bellgrove, MA, Metcalfe, SA, Trollor, JN, Hocking, DR, Slater, HR, Inaba, Y, Li, X, et al.
Novel methylation markers of the dysexecutive-psychiatric phenotype in FMR1 premutation women.
Neurology
84(16)
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1631 -1638
2015
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Loesch, DZ, Bui, MQ, Hammersley, E, Schneider, A, Storey, E, Stimpson, P, Burgess, T, Francis, D, Slater, H, Tassone, F, et al.
Psychological status in female carriers of premutation FMR1 allele showing a complex relationship with the size of CGG expansion.
Clinical Genetics
87(2)
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173 -178
2015
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Godler, DE, Inaba, Y, Schwartz, CE, Bui, QM, Shi, EZ, Li, X, Herlihy, AS, Skinner, C, Hagerman, RJ, Francis, D, et al.
Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis.
Expert Reviews in Molecular Medicine
17:
e13
2015
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