Details
Role
Honorary Fellow
Top Publications
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Grati, FR, Gomes, DM, Ganesamoorthy, D, Marcato, L, De Toffol, S, Blondeel, E, Malvestiti, F, Loeuillet, L, Ruggeri, AM, Wainer, R, et al.
Application of a new molecular technique for the genetic evaluation of products of conception.
Prenatal Diagnosis
33(1)
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32 -41
2013
view publication
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Slater, H.
RCPA/HGSA Resources for quality assurance in genomics.
Pathology
45:
s33
2013
view publication
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Godler, DE, Slater, HR, Bui, QM, Storey, E, Ono, MY, Gehling, F, Inaba, Y, Francis, D, Hopper, JL, Kinsella, G, et al.
Fragile X Mental Retardation 1 (FMR1) Intron 1 Methylation in Blood Predicts Verbal Cognitive Impairment in Female Carriers of Expanded FMR1 Alleles: Evidence from a Pilot Study.
Clinical Chemistry
58(3)
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590 -598
2012
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Bruno, DL, Stark, Z, Amor, DJ, Burgess, T, Butler, K, Corrie, S, Francis, D, Ganesamoorthy, D, Hills, L, James, PA, et al.
Extending the scope of diagnostic chromosome analysis: Detection of single gene defects using highâresolution SNP microarrays.
Human Mutation
32(12)
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1500 -1506
2011
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Bruno, DL, White, SM, Ganesamoorthy, D, Burgess, T, Butler, K, Corrie, S, Francis, D, Hills, L, Prabhakara, K, Ngo, C, et al.
Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping.
Journal of Medical Genetics
48(12)
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831
2011
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