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DR DAVID AMOR



Contact Details

Organization: Paediatrics Royal Children's Hospital
Position: Honorary (Principal Fellow)
Email:

Biography

Professional Appointments

Consultant Clinical Geneticist, Genetic Health Services Victoria, Royal Children’s Hospital, Flemington Rd, Parkville 3052, Australia

Consultant Clinical Geneticist and Clinical Director, Tasmanian Clinical Genetics Service, GPO Box 1061L, Hobart 7001, Australasia

Consultant Clinical Geneticist, Melbourne IVF, 10/320 Victoria Pde, East Melbourne 3002, Australia

Honorary Associate Professor, University of Melbourne Department of Paediatrics

Honorary Staff Specialist in Clinical Genetics at multiple other public hospitals around Melbourne and in Tasmania

Research Appointments

?X Group Leader, Clinical Genetics Research Group, Murdoch Childrens Research Institute (MCRI)

RESEARCH INTERESTS

Genetic and Bioinformatic Analysis of Complex Human Diseases
Chromosomal disorders including disorders of imprinting

Reproductive genetics including prenatal diagnosis and genetic issues associated with in vitro fertilisation (IVF)
Birth defects, genetic causes of intellectual disability, and rare genetic syndromes
Genetic counselling and the social and psychological impacts of genetic testing
Genetics of Adult-onset disorders including familial cancers

REVIEWING JOURNALS AND GRANT APPLICATIONS

I have reviewed articles for European Journal of Human Genetics, American Journal of Medical Genetics, Pathology, Genome Research, Human Mutation, Royal Australian and New Zealand Journal of Obstetrics and Gynaecology, Expert Reviews in Molecular Medicine, Journal of Genetic Counselling.

I have reviewed grant applications for a number of bodies including the National Health and Medical Research Council, the Royal Hobart Hospital, the Royal Children’s Hospital, the Cancer Society of New Zealand, Adelaide Women’s and Children’s Hospital Foundation, and the Child Health Research Foundation of New Zealand.

I also act as an examiner of theses.

Research Expertise and International Linkages

Research Expertise

Research Interest Key Words Country of Expertise
Genetic Counselling Chromosomal disorders, reproductive genetics, birth defects Australia

Qualifications, Honours, Fellowships and Other Awards

Qualifications

Title Institution Date Awarded Abbreviation
MBBS University of Melbourne 31-Dec-1992
PhD University of Melbourne 31-Dec-2005

Memberships

Membership Type Membership Body Description Start Date End Date
Member Infertility Treatment Authority (Victoria) Scientific Advisory Panel 01-Jan-2008
Member Melbourne IVF Preimplantation Genetic Diagnostic Committee 2005 -, & Donor Committee 2007 - 01-Jan-2005
Member Board of Censors for Genetic Counselling HGSA 01-Jan-2005
Member Genetics Advisory Committee Tasmanian Department of Health & Human Services 01-Jan-2001
Member Human Genetics Society of Australasia (Vic branch) Committee & Treasurer 01-Jan-1999
Member Human Genetics Society of Australasia Treasure 01-Jan-2006

Fellowships

Fellowship Date Awarded
Fellow of the Royal Australasian College of Physicians (FRACP) 01-Jan-1999

Other Awards

Award Type Awarding Body Comments Date Awarded
Other (Award) Walter and Eliza Hall Institute Walter and Eliza Hall Exhibition in Pathology 31-Dec-1989
Prize John Adey Prize in Psychiatry 31-Dec-2001
Prize AMA 31-Dec-1992
Prize Ciba Geigy Prizee 31-Dec-1992
Prize Rowden White Prize 31-Dec-1992
Prize Proxime Accessit Prize in Surgery 31-Dec-1992
Prize St Vincent's Hospital Division of Surgery Prize 31-Dec-1992

Government Research Classifications

Research Fields, Courses and Discipline Classifications

Socio-Economic Objective Classifications

Grants and Contracts

Research Grants, Contracts and Consultancies awarded to the University of Melbourne as the administering institution (since 2003) as recorded in Themis Agreements.

Additional Grant and Contract Information

Research Grants

�X Amor DJ NHMRC Postgraduate Medical Research Scholarship. 2002-2004

�X James PA, Burke J, Churchyard A, Kapps M, Amor D. MCRI Small Project Grant. Mapping of a distinctive form of X-linked Mental Retardation with early onset Parkinsonism 2003.

�X Lindemann G, Amor D, Kirk J, Suthers G, Goldblatt J, Gattas M. Cancer Council MultiState Research Grant 2001. kConFab - A Consortium For Research On Familial Breast Cancer ($50,000)

�X Lindemann G, Amor D, Kirk J, Suthers G, Goldblatt J, Gattas M. Cancer Council MultiState Research Grant 2002. kConFab - A Consortium For Research On Familial Breast Cancer ($55,000).

�X Lindemann G, Amor D, Kirk J, Suthers G, Goldblatt J, Gattas M. Cancer Council MultiState Research Grant 2003. kConFab - A Consortium For Research On Familial Breast Cancer ($55,000).

�X Lindemann G, Amor D, Kirk J, Suthers G, Goldblatt J, Gattas M. Cancer Council MultiState Research Grant 2004. kConFab - A Consortium For Research On Familial Breast Cancer ($55,000).

�X Amor DJ MCRI Part Time Career Grant 2007-2009 ($75,000)

�X Halliday J, Aitken MA, Delatycki M, Winship I, Skene L, Donath S (Amor D, Associate Investigator). NHMRC Project Grant 491214. Communication of genetic information in families: A randomised controlled trial of a genetic counselling intervention ($344,500).

�X Foote SJ, Speed T, Smyth GK, Bahlo M, Chalmers DRC, Amor DJ. NHMRC Program Grant 490037. Genetic and Bioinformatic Analysis of Complex Human Diseases ($8,160,000).

�X Aitkin MA, McLaren B, Metcalfe S, Amor DJ, Massie J. Shepherd Foundation Grant 2008. What are the barriers to and facilitators of uptake of genetic carrier screening for cystic fibrosis ($11,300).

�X Gaff CL, Halliday J, Amor DJ. MCRI Theme Grant 2008 An evidence base for the Implementation of Genetic Technologies into clinical practice ($45,000)

�X Halliday J, Amor DJ. MCRI Theme Grant 2008. Health and Development of Children and Young Adults conceived using IVF/ART, and other genetic issues relating to ART ($45,000)

�X Amor DJ, Burke J, Thomson R, Fitzpatrick E, Drini M, Bahlo M, Stankovich J. Royal Hobart Hospital Research Foundation Grant 2008. Linkage studies in hyperplastic polyposis syndrome ($14,960)

�X Hopper JL, Jass J, Jenkins M, Young J, Amor DJ, Antill Y, Buchanan D, Dite G, Dow C, English D, Giles G. NIH Public Health Services Grant. The Colon Cancer Family Registry: Australasia. ($6,334,398)

�X Amor DJ, Halliday J, Jaques A. MCRI Theme Grant 2009. Maximising the health of children conceived using assisted reproduction technologies ($20,000)

�X Delatycki M, Amor DJ, Leventer R. MCRI Theme Grant 2009. Genetics of Brain Development & Function ($39,226)

Publications

Publications produced at the University of Melbourne and reported in the Annual Publications Collection and 'Research Report' since 2001. The Themis Publications module, released in November 2006, allows additional publications from previous institutions and publications from past years to be entered.

Publications in 2009

Journal Articles

  • Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice
    Year: 2009
    Journal: Journal of Medical Genetics
    Volume: 46
    Page numbers: 123-131
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  • Pregnancies conceived using assisted reproductive technologies (ART) have low levels pf pregnancy-associated plasma protein-A (PAPP-A) leading to a high rate of false-positive results in first trimester screening for Down syndrome
    Year: 2009
    Journal: Human Reproduction
    Volume: 24
    Issue: 6
    Page numbers: 1330-1338
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Publications in 2008

Journal Articles

Publications in 2007

Journal Articles

  • Keipert Syndrome (Nasodigitoacoustic Syndrome) is X-linked and maps to Xq22.2 - Xq28
    Year: 2007
    Journal: American Journal of Medical Genetics
    Volume: 143A
    Page numbers: 2236-2241
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  • Obesity, Hypothyroidism, Craniosynostosis, Cardiac Hypertrophy, Colitis, and Developmental Delay: A Novel Syndrome
    Year: 2007
    Journal: American Journal of Medical Genetics
    Volume: Part A
    Issue: 143A
    Page numbers: 114-118
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  • Recurrence risk in Autism Spectrum Disorder: A study of parental knowledge
    Year: 2007
    Journal: Journal of Paediatrics and Child Health
    Volume: 43
    Page numbers: 752-754
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  • Two Siblings With 46,XY DSD, Congenital Adrenal Hypoplasia, Aniridia, Craniofacial, and Skeletal Abnormalities and Intrauterine Growth Retardation: A New Syndrome?
    Year: 2007
    Journal: American Journal of Medical Genetics
    Volume: 143A
    Issue: Part A
    Page numbers: 2085-2088
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Publications in 2006

Journal Articles

  • Health and developmental outcome of children following prenatal diagnosis of confined placental mosaicism
    Year: 2006
    Journal: Prenatal Diagnosis
    Volume: 26
    Issue: 5
    Page numbers: 443-448
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Publications in 2005

Journal Articles

  • Mosaic monosomy for 13q31.1-13q32.3 with neocentromere stabilisation of the deleted region maps brachyphalangy, growth hormone deficiency and a neocentromere site to 13q31.1-13q32.3
    Year: 2005
    Journal: American Journal of Medical Genetics
    Volume: 133A
    Issue: 2
    Page numbers: 151-157
    Publisher: Wiley-Liss(New York)
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Publications in 2004

Journal Articles

  • Beckwith-Wiedemann syndrome and IVF: a case-control study.
    Year: 2004
    Journal: American Journal of Human Genetics
    Volume: 75
    Issue: 3
    Page numbers: 526-528
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  • Building the centromere: from foundation proteins to 3D organization.
    Year: 2004
    Journal: Trends in Cell Biology
    Volume: 14
    Issue: 7
    Page numbers: 359-368
    Publisher: Elsevier Science London(London)
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  • Chromosome size and origin as determinants of the level of CENP-A incorporation into human centromeres
    Year: 2004
    Journal: Chromosome Research
    Volume: 12
    Page numbers: 805-815
    Publisher: Kluwer Academic Publishers(Dordrecht)
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  • De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency.
    Year: 2004
    Journal: Annals of Neurology
    Volume: 55
    Issue: 1
    Page numbers: 58-64
    Publisher: Wiley-Liss(New York)
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  • Growth, behaviour, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) Syndrome.
    Year: 2004
    Journal: American Journal of Medical Genetics
    Volume: 127A
    Issue: 2
    Page numbers: 118-127
    Publisher: Wiley-Liss(New York)
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  • Human centromere repositioning "in progress"
    Year: 2004
    Journal: Proceedings of the National Academy of Sciences of the United States of America
    Volume: 101
    Issue: 17
    Page numbers: 6542-6547
    Publisher: National Academy of Sciences(Washington DC)
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  • Mosaic monosomy of a neocentric ring chromosome maps brachyphalangy and growth hormone deficiency to 13q31.1-13q32.3
    Year: 2004
    Journal: American Journal of Medical Genetics
    Volume: 133A
    Page numbers: 151-157
    Publisher: Wiley-Liss(New York)
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Publications in 2003

Journal Articles

  • Two further cases of Ohdo syndrome delineate the phenotypic variability of the condition.
    Year: 2003
    Journal: Clinical Dysmorphology
    Volume: 12
    Issue: 2
    Page numbers: 109-113
    Publisher: Lippincott Williams & Wilkins
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Publications in 2002

Journal Articles

  • Neocentromere: role in human disease, evolution, and centromere study
    Year: 2002
    Journal: American Journal of Human Biology
    Volume: 71
    Page numbers: 695-714
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Publications in 2001

Journal Articles

  • Intermediate form of Ablepharon-Macrosomia syndrome with CNS abnormalities
    Year: 2001
    Journal: American Journal of Medical Genetics
    Volume: 103
    Issue: 3
    Page numbers: 252-254
    Publisher: Wiley-Liss(New York)
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