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A/Professor Howard Slater
Associate Professor Howard Slater gained his PhD from the University of Glasgow in 1982 and a Diploma then Fellowship of the Royal College of Pathologists (UK) in 1985 and 2004 respectively. He is also a Fellow of the Human Genetics Society of Australasia (1991) and a Founding Fellow of the Faculty of Science, Royal College of Pathologists of Australasia (2010).
- Head of Cytogenetics, Victorian Clinical Genetics Services
- Honorary Associate Professor, Department of Paediatrics, University of Melbourne
Associate Professor Slater has a long term interest in the development of technology for application in clinical cytogenetics and molecular genetics. His current research interests are twofold: the application of copy number variants for measurement of chimerism in organ transplantation, non-invasive prenatal diagnosis (in collaboration with Dr Damien Bruno); methylation of FMR1, correlations with psychological parameters of intelligence and autism and screening for Fragile X syndrome (projects led by colleague Dr David Godler).
- Monitoring the health of organ transplants non-invasively using copy number variants in plasma cell-free DNA.
- Measurement and analysis of fetal cell-free DNA in the plasma of pregnant women.
- Epigenetics of FMR1 and its relationship to phenotype.
Early detection of fragile X syndrome: applications of a novel approach for improved quantitative methylation analysis in venous blood and newborn blood spots. Inaba Y, Schwartz CE, Bui QM, Li X, Skinner C, Field M, Wotton T, Hagerman RJ, Francis D, Amor DJ, Hopper JL, Loesch DZ, Bretherton L, Slater HR, Godler DE1
Clin Chem. 2014 Jul;60(7):963-73.
Use of copy number deletion polymorphisms to assess DNA chimerism. Bruno DL, Ganesamoorthy D, Thorne NP, Ling L, Bahlo M, Forrest S, Veenendaal M, Katerelos M, Skene A, Ierino FL, Power DA, Slater HR, Clin Chem. 2014 Aug;60(8):1105-14.
Investigating and correcting plasma DNA sequencing coverage bias to enhance aneuploidy discovery. Chandrananda D, Thorne NP, Ganesamoorthy D, Bruno DL, Benjamini Y, Speed TP, Slater HR, Bahlo M. PLoS One. 2014 Jan 29;9(1):e86993.
Meeting the challenge of interpreting high resolution SNP-array data in prenatal diagnosis: Does increased diagnostic power outweigh the risk of uncertain variants? Devika Ganesamoorthy, Damien L Bruno, George McGillivray, Fiona Norris, Poonam Charan, Susan M White, Sabir Adroub, David J Amor, Alison Yeung, Ralph Oertel, Mark Pertile, Con Ngo, Alison R Arvaj, Susan Walker, Ricardo Palma Dias, Nicki Woodrow, Howard R Slater. Br J Obs Gynae 2013 120(5):594-606.
Relationships between age and epi-genotype of the FMR1 exon 1 / intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and puberty. Godler DE, Inaba Y, Shi E, Skinner C, Quang MB, Francis D, Amor DJ, Hopper JL, Loesch DZ, Hagerman RJ, Schwartz CE, Slater HR.
Hum Mol Genet 2013 15;22(8):1516-24.
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.Godler D, Slater HR, Bui QM, Storey E, Ono MY, Gehling F, Inaba Y, Francis D, Hopper JL, Kinsella G, Amor DJ, Hagerman RJ, Loesch DZ
Clin Chem. 2012 Mar;58(3):590-8.
Extending the Scope of Diagnostic Chromosome Analysis: Detection of Single Gene Defects using High Resolution SNP-Microarrays. Bruno, D. L.; Stark, Z.; Amor, D. J.; Burgess, T.; Butler, K.; Corrie, S.; Francis, D.; Ganesamoorthy, D.; Hills, L.; James, P.; O'Rielly, D.; Oertel, R.; Savariryan, R.; Prabhakara, K.; Salce, N.; Slater, H. R.
Hum Mutat 2012 32(12) 1500-6
Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping. Damien L Bruno, Devika Ganesamoorthy, Sue White, Trent Burgess, Mark Pertile, David Francis, Ralph Oertel, Con Ngo,Kathy Butler, Sylvea Corrie Prabhakara Krishnamurthy, Louise Hills, Zornitza Stark, David J Amor, Howard R Slater
J Med Genet
Methylation of Novel Markers of Fragile X Alleles is Inversely Correlated with FMRP Expression and FMR1 Activation Ratio. David E Godler, Flora Tassone, Danuta Z Loesch, Annette K Taylor, Freya Gehling, Randi J Hagerman,Trent Burgess, Devika Ganesamoorthy, Debbie Hennerich, Lavinia Gordon, Andrew Evans, KH A Choo, Howard Slater. Hum Molec Genet (2010) 19(8):1618-32. Epub 2010 Jan 29.
High-Resolution Identification of Chromosomal Abnormalities using Oligonucleotide Arrays Containing 116,204 SNPs.
Howard R Slater, Dione K Bailey, Hua Ren, Manqui Cao, Katrina Bell, Robert Henke, KH Andy Choo, Giulia C Kennedy.
Hum Genetics (2005), 77:709-716