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Professor David Amor
Professor David Amor is a consultant clinical geneticist and clinician scientist with a research focus on human genetics. He completed RACP training in paediatrics and clinical genetics in 2000 before undertaking PhD studies in chromosome biology completed in 2004. Since 2005 he has worked as a consultant clinical geneticist at the Victorian Clinical Genetics Service (VCGS) and as a Research Group Leader at Murdoch Childrens Research Institute. Since 2010, Associate Professor Amor has been the Director of Victorian Clinical Genetics Services which provides clinical and laboratory genetic services across Victoria, Tasmania and the Northern Territory.
Professor David Amor's research includes identifying genes for rare disorders, neurogenetics and the genetics of intellectual disability, genetic factors related to assisted reproduction, chromosome disorders, translation of new genetic technologies into clinical care, and population screening for genetic disorders.
- Accelerated gene identification project (AGIP)
- Attitudes of gamete donors and recipients to genetic screening of donors
- Determining the genetic control of Corpus Callosum development
- Towards adequate national provision of genomic testing in pregnancy
- Characterization of a novel epigenetic boundary and long range epigenetic modifications specific to FMR1 expansion carriers with behavioural and cognitive disorders - implications for earlier diagnosis and treatment
Bruno DL, Anderlid BM, Lindstrand A, van Ravenswaaij-Arts C, Ganesamoorthy D, Lundin J, Martin CL, Douglas J, Nowak C, Adam MP, Kooy RF, Van der Aa N, Reyniers E, Vandeweyer G, Stolte-Dijkstra I, Dijkhuizen T, Yeung A, Delatycki M, Borgstrom B, Thelin L, Cardoso C, van Bon B, Pfundt R, de Vries BB, Wallin A, Amor DJ, James PA, Slater HR, Schoumans J (2010) Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes. J Med Genet 47:299-311
Halliday JL, Ukoumunne OC, Baker HW, Breheny S, Jaques AM, Garrett C, Healy D, Amor D (2010) Increased risk of blastogenesis birth defects, arising in the first 4 weeks of pregnancy, after assisted reproductive technologies. Human Reproduction 25:59-65
Mill P, Lockhart PJ, Fitzpatrick E, Mountford HS, Hall EA, Reijns MA, Keighren M, Bahlo M, Bromhead CJ, Budd P, Aftimos A, Delatycki MB, Savarirayan R, Jackson IJ, Amor DJ (2011) Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal Ciliogenesis. Am J Hum Genet 88:508-15
Lamandé SR, Yuan Y, Gresshoff IL, Rowley L, Belluoccio D, Kaluarachchi K, Little CB, Lewis TM, Botzenhart E, Zerres K, Amor DJ, Cole WH, Savarirayan R, McIntyre P, Bateman JF (2011) Mutations in TRPV4 cause an inherited arthropathy of hands and feet. Nature Genetics 43:1142-6
Bruno D, Stark Z, Amor DJ, Burgess T, Butler K, Corrie S, Francis D, Ganesamoorthy D, James P, O'Rielly D, Oertel R, Savariryan R, Krishnamurthy P, Salce N, Slater HR (2011). Extending the Scope of Diagnostic Chromosome Analysis: Detection of Single Gene Defects using High Resolution SNP Microarrays. Human Mutation 32:1500-6.
Bruno DL, White S, Ganesamoorthy D, Burgess T, Butler K, Corrie S, Francis D, Hills L, Krishnamurthy P, Ngo C, Norris F, Oertel R, Pertile MD, Stark Z, Amor DJ, Slater HR (2011) Pathogenic Aberrations Revealed Exclusively by SNP-Genotyping Data in 5,000 Samples Tested by Molecular Karyotyping. J Med Genet 48:831-9
Godler D, Slater H, Bui Q, Storey E, Ono M, Gehling F, Inaba Y, Francis D, Hopper J, Kinsella G, Amor D, Hagerman R, Loesch D, 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. (2012) FMR1 intron 1 methylation in blood predicts verbal cognitive impairment in female carriers of expanded FMR1 alleles: evidence from a pilot study. Clinical Chemistry 58:590-8
Harakalova M, van Harssel JJT, Terhal PA, van Lieshout S, Duran K, Renkens I, Amor DJ, Wilson L, Kirk E, Turner CLS, Shears D, Garcia-Minaur S, Lees MM, Ross A, Venselaar H, Vriend G, Takanari H, Rook M, van der Heyden M, Asselbergs FW, Breur JM, Swinkels ME, Scurr IJ, Smithson SF, Knoers NV, van der Smagt JJ, Nijman IJ, Kloosterman WP, van Haelst MM, van Haaften G, Cuppen E. (2012) Activating mutations in ABCC9 cause Cantú syndrome. Nature Genetics 18:793-6
Godler DE, Inaba Y, Shi EZ, Skinner C, Bui QM, Francis D, Amor DJ, Hopper JL, Loesch DZ, Hagerman RJ, Schwartz CE, Slater HR. (2013) 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. Hum Mol Genet 22:1516-24.
Halliday J, Wilson C, Hammarberg K, Doyle LW, Bruinsma F, McLachlan R, McBain J, Berg T, Fisher JR, Amor DJ. (2014) Comparing indicators of health and development of singleton young adults conceived with and without Assisted Reproductive Technology (ART). Fertility and Sterility 101:1055-63