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A/PROF DAVID MACKEY



Contact Details

Organization: Ophthalmology Eye and Ear Hospital
Position: HONORARY SUPERVISOR
Email:

Qualifications, Honours, Fellowships and Other Awards

Qualifications

Title Institution Date Awarded Abbreviation
Bachelor of Science University of Tasmania
Bachelor of Medicine University of Tasmania
Doctor of Medicine University of Tasmania

Fellowships

Fellowship Date Awarded
Fellow of the Royal Australian College of Ophthalmologists (FRACOPHTH)
Fellow of the Royal Australasian College of Surgeons (FRACS)

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.

Grants

Title Role Funding Source Scheme Award Date
THE RELATIVE GENETIC AND ENVIRONMENTAL CONTRIBUTION TO RETINAL MICROVASCULAR SIGNS: THE AUSTRALIA TWIN EYE STUDIES Principal Supervisor NHMRC Public Health Postgraduate Scholarships 01/01/2007
The role of genetics in determining the shape of the optic nerve head (disc) Principal Supervisor NHMRC Scholarships 01/01/2009

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

  • Quantitative genetic analysis of the retinal vascular caliber: the Australian twins eye study


    Year: 2009
    Journal: Hypertension
    Volume: 54
    Issue: 4
    Page numbers: 788-795
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  • Birth factors and retinal vascular caliber in a twin study. Response
    Year: 2009
    Journal: Hypertension
    Volume: 53
    Issue: 4
    Page numbers: E29-E30
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  • Effect of birth parameters on retinal vascular caliber: the twins eye study in Tasmania
    Year: 2009
    Journal: Hypertension
    Volume: 53
    Issue: 3
    Page numbers: 487-493
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  • Genetic influences on handedness: Data from 25,732 Australian and Dutch twin families
    Year: 2009
    Journal: Neuropsychologia
    Volume: 47
    Issue: 2
    Page numbers: 330-337
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  • Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract
    Year: 2009
    Journal: Human Mutation
    Volume: 30
    Issue: 5
    Page numbers: E603-611
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  • Optic disc morphology - Rethinking shape
    Year: 2009
    Journal: Progress in Retinal and Eye Research
    Volume: 28
    Issue: 4
    Page numbers: 227-248
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  • Primary open angle glaucoma in subjects harbouring the predicted GLC1L haplotype reveals a normotensive phenotype
    Year: 2009
    Journal: Clinical and Experimental Ophthalmology
    Volume: 37
    Issue: 2
    Page numbers: 201-207
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  • Quality of DNA extracted from mouthwashes
    Year: 2009
    Journal: PLoS One
    Volume: 4
    Issue: 7
    Page numbers: e6165
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  • Retinal vascular caliber: systemic, environmental, and genetic associations
    Year: 2009
    Journal: Survey of Ophthalmology
    Volume: 54
    Issue: 1
    Page numbers: 74-95
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  • The 'I' in personalized genetics: 2008 Ian Constable lecture
    Year: 2009
    Journal: Clinical and Experimental Ophthalmology
    Volume: 37
    Issue: 5
    Page numbers: 434-443
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  • Twins eye study in Tasmania (TEST): rationale and methodology to recruit and examine twins
    Year: 2009
    Journal: Twin Research and Human Genetics
    Volume: 12
    Issue: 5
    Page numbers: 441-454
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Publications in 2008

Journal Articles

  • A novel locus for X-linked congenital cataract on Xq24


    Year: 2008
    Journal: Molecular Vision
    Volume: 14
    Page numbers: 721-726
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  • Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people
    Year: 2008
    Journal: Human Molecular Genetics
    Volume: 17
    Issue: 5
    Page numbers: 710-716
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  • Evaluation of splicing effeciency in lymphoblastoid cell lines from patients with splicing-factor retinitis pigmentosa
    Year: 2008
    Journal: Molecular Vision
    Volume: 14
    Page numbers: 2357-2366
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  • Genetic analysis of the clusterin gene in pseudoexfoliation syndrome
    Year: 2008
    Journal: Molecular Vision
    Volume: 14
    Page numbers: 1727-1736
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  • Genetic dissection of myopia: evidence for linkage of ocular axial length to chromosome 5q
    Year: 2008
    Journal: Ophthalmology
    Volume: 115
    Issue: 6
    Page numbers: 1053-1057
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  • Genetic isolates in ophthalmic disease
    Year: 2008
    Journal: Ophthalmic Genetics
    Volume: 29
    Issue: 4
    Page numbers: 149-161
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  • Heritability of anterior chamber depth as an intermediate phenotype of angle-closure in Chinese: the Guangzhou twin eye study
    Year: 2008
    Journal: Investigative Ophthalmology and Visual Science
    Volume: 49
    Issue: 1
    Page numbers: 81-86
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  • Heritability of intraocular pressure: a classical twin study
    Year: 2008
    Journal: British Journal of Ophthalmology
    Volume: 92
    Issue: 8
    Page numbers: 1125-1128
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  • Heritability of the iridotrabecular angle width measured by optical coherence tomography in Chinese children: the Guangzhou twin eye study
    Year: 2008
    Journal: Investigative Ophthalmology and Visual Science
    Volume: 49
    Issue: 4
    Page numbers: 1356-1361
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  • Investigation of eight candidate genes on chromosome 1p36 for autosomal dominant total congenital cataract
    Year: 2008
    Journal: Molecular Vision
    Volume: 14
    Page numbers: 1799-1804
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  • Myocilin allele-specific glaucoma phenotype database
    Year: 2008
    Journal: Human Mutation
    Volume: 29
    Issue: 2
    Page numbers: 207-211
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  • The heritability of corneal hysteresis and ocular pulse amplitude
    Year: 2008
    Journal: Ophthalmology
    Volume: 115
    Issue: 9
    Page numbers: 1545-1549
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  • The natural history of OPA1-related autosomal dominant optic atrophy
    Year: 2008
    Journal: British Journal of Ophthalmology
    Volume: 92
    Issue: 10
    Page numbers: 1333-1336
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  • The pathogenesis of the glaucomas: nature versus nurture
    Year: 2008
    Journal: Clinical and Experimental Ophthalmology
    Volume: 36
    Issue: 3
    Page numbers: 297
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Conference Publications/Papers

  • Gillies lecture: Dissecting glaucoma: understanding the molecular risk factors
    Year: 2008
    Event name: Australian and New Zealand Glaucoma Interest group
    Conference Publication: Clinical and Experimental Ophthalmology
    Volume: 36
    Issue: 5
    Page numbers: 403-409
    Publisher: Wiley-Blackwell Publishing Asia
    Author(s):

Publications in 2007

Journal Articles

  • Screening for glaucomatous disc changes prior to diagnosis of glaucoma in myocilin pedigrees.


    Year: 2007
    Journal: Archives of Ophthalmology
    Volume: 125
    Issue: 1
    Page numbers: 112-116
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  • A novel deletion in the FTL gene causes hereditary hyperferritinemia cataract syndrome (HHCS) by alteration of the transcription start site.
    Year: 2007
    Journal: Human Mutation
    Volume: 28
    Issue: 7
    Page numbers: 742
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  • Abnormal iris processes may be a maker of glaucoma gene carrier status in some cases of primary infantile glaucoma.
    Year: 2007
    Journal: Ophthalmic Genetics
    Volume: 28
    Issue: 3
    Page numbers: 157-162
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  • Autosomal dominant optic atrophy:  penetrance and expressivity in patients with OPA1 mutations.
    Year: 2007
    Journal: American Journal of Ophthalmology
    Volume: 143
    Issue: 4
    Page numbers: 656-662
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  • Central corneal thickness and glaucoma in the Australian Aboriginal population
    Year: 2007
    Journal: Clinical and Experimental Ophthalmology
    Volume: 35
    Issue: 8
    Page numbers: 691-692
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  • Heritable features of the optic disc:  A novel twin method for determining genetic significance.
    Year: 2007
    Journal: Investigative Ophthalmology and Visual Science
    Volume: 48
    Issue: 6
    Page numbers: 2469-2475
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  • How significant is a family history of glaucoma? Experience from the glaucoma inheritance study in Tasmania
    Year: 2007
    Journal: Clinical and Experimental Ophthalmology
    Volume: 35
    Issue: 9
    Page numbers: 793-799
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  • Investigation of founder effects for the Thr377Met Myocilin mutation in glaucoma families from differing ethnic backgrounds.
    Year: 2007
    Journal: Molecular Vision
    Volume: 13
    Issue: 3
    Page numbers: 487-92
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  • Is second eye involvement in Leber's hereditary optic neuropathy due to retro-chiasmal spread of apoptosis?
    Year: 2007
    Journal: Neuro-Ophthalmology
    Volume: 31
    Issue: 4
    Page numbers: 87-98
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  • Myocilin Gly252Arg mutation and glaucoma of intermediate severity in caucasian individuals.
    Year: 2007
    Journal: Archives of Ophthalmology
    Volume: 125
    Issue: 1
    Page numbers: 98-104
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  • No association between variations in the WDR36 gene and primary open-angle glaucoma
    Year: 2007
    Journal: Archives of Ophthalmology
    Volume: 125
    Issue: 3
    Page numbers: 434-436
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  • No maternally inherited diabetes and deafness mutations in a sample of 193 Tasmanian diabetics with glaucoma.
    Year: 2007
    Journal: Ophthalmic Genetics
    Volume: 28
    Issue: 1
    Page numbers: 39-41
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  • PAX6 mutations may be associated with high myopia
    Year: 2007
    Journal: Ophthalmic Genetics
    Volume: 28
    Issue: 3
    Page numbers: 179-182
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  • Prevalence of CYP1B1 mutations in Australian patients with primary congenital glaucoma
    Year: 2007
    Journal: Clinical Genetics
    Volume: 72
    Issue: 3
    Page numbers: 255-260
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  • The association between maternal smoking in pregnancy, other early life characteristics and childhood vision: The twins eye study in Tasmania
    Year: 2007
    Journal: Ophthalmic Epidemiology
    Volume: 14
    Issue: 6
    Page numbers: 351-359
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  • The optic nerve head in Myocilin glaucoma.
    Year: 2007
    Journal: Investigative Ophthalmology and Visual Science
    Volume: 48
    Issue: 1
    Page numbers: 238-243
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Publications in 2006

Journal Articles

  • 2005 Gregg Lecture:  Congenital cataract - from rubella to genetics.
    Year: 2006
    Journal: Clinical and Experimental Ophthalmology
    Volume: 34
    Issue: 3
    Page numbers: 199-207
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  • Recognition of the familial nature of glaucoma.

     


    Year: 2006
    Journal: Ophthalmology
    Volume: 27
    Issue: 5
    Page numbers: 85-88
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  • A Myocilin Gln368STOP homozygote does not exhibit a more severe glaucoma phenotype than heterozygous cases.
    Year: 2006
    Journal: American Journal of Ophthalmology
    Volume: 141
    Issue: 2
    Page numbers: 402-403
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  • A glaucoma case-control study of the WDR36 gene D658G sequence variant.
    Year: 2006
    Journal: American Journal of Ophthalmology
    Volume: 142
    Issue: 2
    Page numbers: 324-325
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  • A large GLCIC Greek family with a myocilin T377M mutation:  Inheritance and pheotypic variability.
    Year: 2006
    Journal: Investigative Ophthalmology and Visual Science
    Volume: 47
    Issue: 2
    Page numbers: 620-625
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  • Complex genetics of complex traits:  the case of primary open-angle glaucoma.
    Year: 2006
    Journal: Clinical and Experimental Ophthalmology
    Volume: 34
    Issue: 5
    Page numbers: 472-484
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  • Confirmation of the adult-onset of primary open angle glaucoma locus GLC1B at 2cen-q13 in an Australian Family.
    Year: 2006
    Journal: Ophthalmologica
    Volume: 220
    Issue: 1
    Page numbers: 23-30
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  • Disease severity of familial glaucoma compared with sporadic glaucoma.
    Year: 2006
    Journal: Archives of Ophthalmology
    Volume: 124
    Issue: 7
    Page numbers: 950-954
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  • Familial transmission risks of infantile glaucoma in Australia.
    Year: 2006
    Journal: Ophthalmic Genetics
    Volume: 27
    Issue: 3
    Page numbers: 93-97
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  • Fine mapping of the X-linked recessive congenital idiopathic nystagmus locus at Xq24-q26.3.
    Year: 2006
    Journal: Molecular Vision
    Volume: 12
    Issue: 5
    Page numbers: 499-505
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  • Mutations in the NDP gene:  contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity,
    Year: 2006
    Journal: Clinical and Experimental Ophthalmology
    Volume: 34
    Issue: 7
    Page numbers: 682-688
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  • Nail-patella syndrome and its association with glaucoma:  a review of eight families.
    Year: 2006
    Journal: British Journal of Ophthalmology
    Volume: 90
    Issue: 12
    Page numbers: 1505-1509
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  • Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions.
    Year: 2006
    Journal: Human Molecular Genetics
    Volume: 15
    Issue: 12
    Page numbers: 1972-1983
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  • The PITX3 gene is posterior polar congenital cataract in Australia.
    Year: 2006
    Journal: Molecular Vision
    Volume: 12
    Issue: 4
    Page numbers: 367-371
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  • The role of the Met98Lys optineurin variant in inherited optic nerve diseases.
    Year: 2006
    Journal: British Journal of Ophthalmology
    Volume: 90
    Issue: 11
    Page numbers: 1420-1424
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  • Tools for cup:disc ratio measurement
    Year: 2006
    Journal: Clinical and Experimental Ophthalmology
    Volume: 34
    Issue: 3
    Page numbers: 288-9
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Publications in 2005

Journal Articles

  • A Common Disease Haplotype for the Q368STOP Mutation of the Myocilin Gene in Australian and Canadian Glaucoma Families
    Year: 2005
    Journal: American Journal of Ophthalmology
    Volume: 140
    Page numbers: 760-762
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  • Central Corneal Thickness Is Highly Heritable: The Twin Eye Studies
    Year: 2005
    Journal: Investigative Ophthalmology and Visual Science
    Volume: 46
    Issue: 10
    Page numbers: 3718-3722
    Publisher: Association for Research in Vision and Ophthalmology Inc(Maryland)
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  • Chromosomal Abnormalities and Glaucoma: A Case of Cogenital Glaucoma with Trisomy 8q22-Qter/Monosomy 9p23-Pter
    Year: 2005
    Journal: Ophthalmic Genetics
    Volume: 26
    Page numbers: 45-53
    Publisher: Aeolus Press
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  • Evidence for a novel glaucoma locus at chromosome 3p21-22
    Year: 2005
    Journal: Human Genetics
    Volume: 117
    Page numbers: 249-257
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  • Genotypic and phenotypic spectrum of X-linked retinoschisis in Australia
    Year: 2005
    Journal: Clinical and Experimental Ophthalmology
    Volume: 33
    Page numbers: 233-239
    Publisher: Blackwell Science Asia(Carlton)
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  • Introducing a new retinitis pigmentosa patient information website
    Year: 2005
    Journal: Clinical and Experimental Ophthalmology
    Volume: 33
    Issue: 2
    Page numbers: 227-227
    Publisher: Blackwell Science Asia(Carlton)
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  • Lack of association of p53 polymorphisms and hapiotypes in high and normal tension open angle glaucoma
    Year: 2005
    Journal: Journal of Medical Genetics
    Volume: 42
    Page numbers: 1-4
    Publisher: BMJ Publishing Group(London)
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  • Linkage to 10q22 for Maximum Intraocular Pressure and 1p32 for Maximum Cup-to-Disc Ratio in an Extended Primary Open-Angle Glaucoma Pedigree
    Year: 2005
    Journal: Investigative Ophthalmology and Visual Science
    Volume: 46
    Page numbers: 3723-3729
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  • Mutations in TCF8 Cause Posterior Polymorphous Corneal Dystrophy and Ectopic Expression of COL4A3 by Corneal Endothelial Cells
    Year: 2005
    Journal: American Journal of Human Genetics
    Volume: 77
    Page numbers: 694-708
    Publisher: University of Chicago Press(Illinois)
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  • Post-Cyclopegia Myopic Shift in an Older Population
    Year: 2005
    Journal: Ophthalmic Epidemiology
    Volume: 12
    Page numbers: 215-219
    Publisher: Aeolus Press
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  • The Q368STOP Myocilin Mutation in a Population-based Cohort: The Blue Mountains Eye Study
    Year: 2005
    Journal: American Journal of Ophthalmology
    Volume: 139
    Page numbers: 1125-1126
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  • The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes
    Year: 2005
    Journal: British Journal of Ophthalmology
    Volume: 89
    Page numbers: 831-834
    Publisher: BMJ Publishing Group(London)
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Publications in 2004

Journal Articles

  • A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance
    Year: 2004
    Journal: Journal of Medical Genetics
    Volume: 41
    Page numbers: 1-4
    Publisher: BMJ Publishing Group(London)
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  • Analysis of optineurin (OPTN) gene mutations in subjects with and without glaucoma: the Blue Mountains Eye Study
    Year: 2004
    Journal: Clinical and Experimental Ophthalmology
    Volume: 32
    Page numbers: 518-522
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  • Are Duane Syndrome and Infantile Esotropia Allelic?
    Year: 2004
    Journal: Ophthalmic Genetics
    Volume: 25
    Issue: 3
    Page numbers: 189-198
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  • Attitudes to Predictive DNA Testing for Myocilin GlaucomaExperience with a Large Australian Family
    Year: 2004
    Journal: Journal of Glaucoma
    Volume: 13
    Page numbers: 304-311
    Publisher: Lippincott Williams & Wilkins(Pennsylvania)
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  • Identification of KIF21A Mutations as a Rare Cause of Congenital Fibrosis of the Extraocular Muscles Type 3 (CFEOM3)
    Year: 2004
    Journal: Investigative Ophthalmology and Visual Science
    Volume: 45
    Page numbers: 2218-2223
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  • Investigation of crystallin genes in familial cataract, and report of two disease associtaed mutations
    Year: 2004
    Journal: British Journal of Ophthalmology
    Volume: 88
    Page numbers: 79-83
    Publisher: BMJ Publishing Group(London)
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  • Mitochondrial DNA haplogroup distribution within Leber hereditary optic neuropathy pedigrees
    Year: 2004
    Journal: Journal of Medical Genetics
    Volume: 41
    Page numbers: 1-5
    Publisher: BMJ Publishing Group(London)
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  • Mutations in LRP5 or FZD4 Underlie the Common Familial Exudative Vitreoretinopathy Locus on Chromosome 11q
    Year: 2004
    Journal: American Journal of Human Genetics
    Volume: 74
    Page numbers: 721-730
    Publisher: University of Chicago Press(Illinois)
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  • Primary infantile glaucoma in an Australian population
    Year: 2004
    Journal: Clinical and Experimental Ophthalmology
    Volume: 32
    Page numbers: 14-18
    Publisher: Blackwell Science Asia(Carlton)
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  • Spectrum and Frequency of FZD4 Mutations in Familial Exudative Vitreoretinopathy
    Year: 2004
    Journal: Investigative Ophthalmology and Visual Science
    Volume: 45
    Page numbers: 2083-2090
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Publications in 2003

Journal Articles

  • Analysis of 15 primary open-angle glaucoma families from Australia identifies a founder effect for the Q368STOP mutation of myocilin
    Year: 2003
    Journal: Human Genetics
    Volume: 112
    Page numbers: 110-116
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  • Clinical progression of keratoconus following a Vth nerve palsy
    Year: 2003
    Journal: Clinical and Experimental Ophthalmology
    Volume: 31
    Page numbers: 363-365
    Publisher: Blackwell Science Asia(Carlton)
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  • Glaucoma Phenotype in Pedigrees With the Myocilin Thr377Met Mutation
    Year: 2003
    Journal: Archives of Ophthalmology
    Volume: 121
    Page numbers: 1172-1180
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  • Hereditary Hyperferritinemia-Cataract Syndrome
    Year: 2003
    Journal: Archives of Ophthalmology
    Volume: 121
    Page numbers: 1753-1761
    Publisher: American Medical Association(Illinois)
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  • Investigation of albinism genes in congenital esotropia
    Year: 2003
    Journal: Molecular Vision
    Volume: 9
    Page numbers: 710-714
    Publisher: Molecular Vision
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  • Investigation of crystallin genes in familial cataract, and report of two disease associated mutations
    Year: 2003
    Journal: British Journal of Ophthalmology
    Volume: 88
    Page numbers: 79-83
    Publisher: BMJ Publishing Group(London)
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  • Leber's hereditary optic neuropathy triggered by antietroviral therapy for human immunodeficiency virus
    Year: 2003
    Journal: Eye
    Volume: 17
    Page numbers: 312-317
    Publisher: Royal College of Opthalmologists(London)
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  • Low Penetrance of the 14484 LHON Mutation When It Arises in a Non-Haplogroup J mtDNA Background
    Year: 2003
    Journal: American Journal of Medical Genetics
    Volume: 119A
    Page numbers: 147-151
    Publisher: Wiley-Liss(New York)
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  • Mutations in a Novel Gene, NHS, Cause the Pleiotropic Effects of Nance-Horan Syndrome, Including Severe Congenital Cataract, Dental Anomalies, and Mental Retardation
    Year: 2003
    Journal: American Journal of Human Genetics
    Volume: 73
    Page numbers: 1120-1130
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  • Pigmentary retinopathy, macular oedema, and abnormal ERG with mitotane treatment
    Year: 2003
    Journal: British Journal of Ophthalmology
    Volume: 87
    Page numbers: 500-501
    Publisher: BMJ Publishing Group(London)
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  • Predictive DNA testing in ophthalmology
    Year: 2003
    Journal: British Journal of Ophthalmology
    Volume: 87
    Page numbers: 633-638
    Publisher: BMJ Publishing Group(London)
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  • Sequence Analysis of the Mitochondrial Genomes from Dutch Pedigrees with Leber Hereditary Optic Neuopathy
    Year: 2003
    Journal: American Journal of Human Genetics
    Volume: 72
    Page numbers: 1460-1469
    Publisher: University of Chicago Press(Illinois)
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  • The Pedigree Rate of Sequence Divergence in the Human Mitochondrial Genome: There Is a Difference Between Phylogenetic and Pedigree Rates
    Year: 2003
    Journal: American Journal of Human Genetics
    Volume: 72
    Page numbers: 659-670
    Publisher: University of Chicago Press(Illinois)
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  • Tonography Demonstrates Reduced Facility of Outflow of Aqueous Humor in Myocilin Mutation Carriers
    Year: 2003
    Journal: Journal of Glaucoma
    Volume: 12
    Page numbers: 237-242
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Publications in 2002

Journal Articles

  • Aetiology of congenital and paediatric cataract in an Australian population
    Year: 2002
    Journal: British Journal of Ophthalmology
    Volume: 86
    Page numbers: 782-786
    Publisher: BMJ Publishing Group(London)
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  • Broad phenotypic variability in a single pedigree with a novel 1410delC mutation in the PST domain of the PAX6 gene
    Year: 2002
    Journal: Human Mutation
    Volume: 20
    Page numbers: 322-327
    Publisher: Wiley-Liss(New York)
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  • Congential fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus
    Year: 2002
    Journal: Human Genetics
    Volume: 110
    Page numbers: 510-512
    Publisher: Springer Verlag(New York)
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  • Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease
    Year: 2002
    Journal: Journal of Medical Genetics
    Volume: 39
    Page numbers: e47
    Publisher: BMJ Publishing Group(London)
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  • Identity-by-descent approach to gene localisation in eight individuals affected by keratoconus from north-west Tasmania, Australia
    Year: 2002
    Journal: Human Genetics
    Volume: 110
    Page numbers: 462-470
    Publisher: Springer Verlag(New York)
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  • Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa
    Year: 2002
    Journal: European Journal of Human Genetics
    Volume: 10
    Page numbers: 245-249
    Publisher: Nature Publishing Group(Basingstroke)
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  • Retinopathy of prematurity: recent advances in our understanding
    Year: 2002
    Journal: British Journal of Ophthalmology
    Volume: 86
    Page numbers: 696-701
    Publisher: BMJ Publishing Group(London)
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  • The apolipoprotein epsilon4 gene is associated with elevated risk of normal tension glaucoma
    Year: 2002
    Journal: Molecular Vision
    Volume: 8
    Page numbers: 389-393
    Publisher: Molecular Vision
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  • Visual field assessment and the Austroads driving standard
    Year: 2002
    Journal: Clinical and Experimental Ophthalmology
    Volume: 30
    Page numbers: 3-7
    Publisher: Blackwell Science Asia(Carlton)
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Publications in 2001

Journal Articles

  • A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye
    Year: 2001
    Journal: American Journal of Human Genetics
    Volume: 68
    Page numbers: 364-372
    Publisher: University of Chicago Press(Illinois)
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  • Different patterns of expansion/contraction during the evolution of an mtDNA simple repeat
    Year: 2001
    Journal: Molecular Biology and Evolution
    Volume: 18
    Issue: 8
    Page numbers: 1593-1596
    Publisher: Society for Molecular Biology and Evolution(Kansas)
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  • Evaluation of the Myocilin (MYOC) glaucoma gene in monkey and human steroid-induced ocular hypertension
    Year: 2001
    Journal: Investigative Ophthalmology and Visual Science
    Volume: 42
    Issue: 1
    Page numbers: 145-152
    Publisher: Association for Research in Vision and Ophthalmology Inc(Maryland)
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  • Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier
    Year: 2001
    Journal: Ophthalmology
    Volume: 108
    Issue: 9
    Page numbers: 1607-1620
    Publisher: Elsevier Science(New York)
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  • Laboratory methods in ophthalmic genetics: obtaining DNA from patients
    Year: 2001
    Journal: Ophthalmic Genetics
    Volume: 22
    Issue: 1
    Page numbers: 49-60
    Publisher: Aeolus Press
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  • The Taa1 restriction enzyme provides a simple means to identify the Q368STOP mutation of the myocilin gene in primary open angle glaucoma
    Year: 2001
    Journal: American Journal of Ophthalmology
    Volume: 131
    Page numbers: 510-511
    Publisher: Elsevier Science(New York)
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