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Details

Role Honorary Fellow
Research area Genomic Medicine

Top Publications

  • Chia, NL, Slater, HR, Potter, JM. Detection of segmental chromosome copy number gains by improved fluorescence in situ hybridization techniques.. Journal of the Association of Genetic Technologists 41(1) : 5 -11 2015
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  • Ling, L, Swain, M, Conyers, R, Bruno, D, Whitlam, J, Slater, H. A powerful new approach to measuring engraftment using copy number variations and droplet digital PCR, exemplified in a complex allogeneic bone marrow transplantation case. Pathology 47: s87 2015
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  • Bruno, DL, Ganesamoorthy, D, Thorne, NP, Ling, L, Bahlo, M, Forrest, S, Veenendaal, M, Katerelos, M, Skene, A, Ierino, FL, et al. Use of Copy Number Deletion Polymorphisms to Assess DNA Chimerism. Clinical Chemistry 60(8) : 1105 -1114 2014
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  • Inaba, Y, Schwartz, CE, Bui, QM, Li, X, Skinner, C, Field, M, Wotton, T, Hagerman, RJ, Francis, D, Amor, DJ, et al. Early Detection of Fragile X Syndrome: Applications of a Novel Approach for Improved Quantitative Methylation Analysis in Venous Blood and Newborn Blood Spots. Clinical Chemistry 60(7) : 963 -973 2014
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  • Godler, DE, Amor, DJ, Slater, HR. Methylation Analysis in Newborn Screening for Fragile X Syndrome. JAMA Neurology 71(6) : 800 -800 2014
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