Selected publications
2012
Journal Articles Refereed
- 20/20-Alcohol and Age-related Macular Degeneration: The Melbourne Collaborative Cohort Study.. American Journal of Epidemiology. 176:289-298. 2012
- Apolipoprotein E gene associations in age-related macular degeneration: the Melbourne Collaborative Cohort Study. American Journal of Epidemiology. 175:511-518. 2012
- Assessment of the association of matrix metalloproteinases with myopia, refractive error and ocular biometric measures in an Australian cohort.. PLoS One. 7. 2012
- Can genetic associations change with age? CFH and age-related macular degeneration. Human Molecular Genetics. 21:5229-5236. 2012
- Comprehensive analysis of copy number variation of genes at chromosome 1 and 10 loci associated with late age related macular degeneration. PLoS One. 7. 2012
- Delay to treatment and visual outcomes in patients treated with anti-vascular endothelial growth factor for age-related macular degeneration.. American Journal of Ophthalmology. 153:678-686. 2012
- Heritability of the spatial distribution and peak density of macular pigment: a classical twin study.. Eye - London. 26:1217-1225. 2012
- Hypomethylation of IL17RC Promoter Associates with Age-related Macular Degeneration. Cell Reports. 2:1151-1158. 2012
- Hypomethylation of the IL17RC promoter associates with age-related macular degeneration. Cell Reports. 2:1151-1158. 2012
- Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium. Human Genetics. 131:1467-1480. 2012
Other Refereed Contribution to Refereed Journals
- The Australian Twin Registry as a Resource For Genetic Studies into Ophthalmic Traits. Twin Research and Human Genetics. 16:1-6. 2012
2011
Journal Articles Refereed
- Abdominal obesity and age-related macular degeneration. American Journal of Epidemiology. 173:1246-1255. 2011
- Almost total protection from age-related macular degeneration by haplotypes of the Regulators of Complement Activation. Genomics. 98:412-421. 2011
- Clinical validation of a genetic model to estimate risk of developing choroidal neovascular age-related macular degeneration. Human Genomics. 5:420-440. 2011
- Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. Human Molecular Genetics. 20:3699-3709. 2011
- Evidence of association of APOE with age-related macular degeneration: a pooled analysis of 15 studies. Human Mutation. 32:1407-1416. 2011
- Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer. PLoS Genetics. 7. 2011
- Variants in the APOE gene are associated with improved outcome after anti-VEGF treatment for neovascular AMD. Investigative Ophthalmology and Visual Science. 52:4072-4079. 2011
- Variations in apolipoprotein E frequency with age in a pooled analysis of a large group of older people. American Journal of Epidemiology. 173:1357-1364. 2011
Other Refereed Contribution to Refereed Journals
- Gene patents related to common diseases of the eye. Recent Patents on DNA & Gene Sequences. 5:185-193. 2011
2010
Book Chapters Other
- Genetics of retinal disease. Retinal Pharmacotherapy. Elsevier. 48-55. 2010
- Twin studies and myopia. Myopia: animal models to clinical trials. World Scientific Publishing Co. 183-200. 2010
Journal Articles Refereed
- Analysis of glutathione S-transferase Pi isoform (GSTP1) single-nucleotide polymorphisms and macular telangiectasia type 2. International Ophthalmology Clinics. 30:645-650. 2010
- C-reactive protein levels and complement factor H polymorphism interaction in age-related macular degeneration and its progression. Ophthalmology. 117:1982-1988. 2010
- Role of the hepatocyte growth factor gene in refractive error. Ophthalmology. 117:239-245. 2010
Other Refereed Contribution to Refereed Journals
- Discordant refraction in male monozygotic twins. Journal of Pediatric Ophthalmology and Strabismus. 47:e1-e2. 2010
2009
Journal Articles Refereed
- Amyloid precursor protein processing and retinal pathology in mouse models of Alzheimer's disease. Graefe's Archive for Clinical and Experimental Ophthalmology. 247:1213-1221. 2009
- Analysis of rare variants in the complement component 2 (C2) and factor B (BF) genes refine association for age-related macular degeneration (AMD). Investigative Ophthalmology and Visual Science. 50:540-543. 2009
- Androgen receptor repeat length polymorphism associated with male-to-female transsexualism. Biological Psychiatry. 65:93-96. 2009
- Fine mapping linkage analysis identifies a novel susceptibility locus for myopia on chromosome 2q37 adjacent to but not overlapping MYP12. Molecular Vision. 15:722-730. 2009
- New era for personalized medicine: the diagnosis and management of age-related macular degeneration. Clinical and Experimental Ophthalmology. 37:814-821. 2009
- Outcomes of laser refractive surgery for myopia. Journal of Cataract and Refractive Surgery. 35:921-933. 2009
- Primary open angle glaucoma in subjects harbouring the predicted GLC1L haplotype reveals a normotensive phenotype. Clinical and Experimental Ophthalmology. 37:201-207. 2009
- Recent patents relating to diagnostic advances in age related macular degeneration (AMD). Recent Patents on DNA & Gene Sequences. 3:102-113. 2009
- Role of genetic factors in lower- and higher-order aberrations: the genes in myopia twin study. Ophthalmic Research: journal for research in experimental and clinical ophthalmology. 41:142-147. 2009
- The dot-and-fleck retinopathy of X linked Alport syndrome is independent of complement factor H (CFH ) gene polymorphisms. British Journal of Ophthalmology. 93:379-382. 2009
- The hepatocyte growth factor receptor (MET) gene is not associated with refractive error and ocular biometrics in a Caucasian population. Molecular Vision. 15:2599-2605. 2009
- The retinoic acid receptor alpha (RARA) gene is not associated with myopia, hypermetropia, and ocular biometric measures. Molecular Vision. 15:1390-1397. 2009
- The role of birth weight in myopia: the genes in myopia twin study. Ophthalmic Research: journal for research in experimental and clinical ophthalmology. 41:154-159. 2009
Journal Articles Unrefereed Letters or Notes
- Mislabelling of twin zygosities: the GEnes in Myopia (GEM) twin study. Clinical and Experimental Ophthalmology. 37:629-630. 2009
- Sorsby's fundus dystrophy: a case report to raise awareness of the disease and potential future treatments. Clinical and Experimental Ophthalmology. 37:325-327. 2009
Other Refereed Contribution to Refereed Journals
- Mirror image congenital esotropia and concordant hypermetropia in identical twins. European Journal of Ophthalmology. 19:1074-1076. 2009
- The SERPING1 gene and age-related macular degeneration. The Lancet. 374:875-876. 2009
Conference Papers Refereed
2008
Research Book Chapters
- Myocilin mutations and their role in open-angle glaucoma. Mechanisms of the glaucomas: disease processes and therapeutic modalities. Humana Press. 205-217. 2008
Journal Articles Refereed
- Adult-onset myopia: the Genes in Myopia (GEM) twin study. Investigative Ophthalmology and Visual Science. 49:3324-3327. 2008
- Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people. Human Molecular Genetics. 17:710-716. 2008
- Assessment of TGIF as a candidate gene for myopia. Investigative Ophthalmology and Visual Science. 49:49-54. 2008
- Body stature and myopia - the genes in myopia (GEM) twin study. Ophthalmic Epidemiology. 15:135-139. 2008
- Can HMG Co-A reductase inhibitors ("statins") slow the progression of age-related macular degeneration? The age-related maculopathy statin study (ARMSS). Clinical Interventions in Aging. 3:581-593. 2008
- Dominant genetic effects on corneal astigmatism: the genes in myopia (GEM) twin study. Investigative Ophthalmology and Visual Science. 49:1339-1344. 2008
- Evidence of shared genes in refraction and axial length: the genes in myopia (GEM) twin study. Investigative Ophthalmology and Visual Science. 49:4336-4339. 2008
- Gene-environment interaction in progression of AMD: the CFH gene, smoking and exposure to chronic infection. Human Molecular Genetics. 17:1299-1305. 2008
- Myopia and personality: the genes in myopia (GEM) personality study. Investigative Ophthalmology and Visual Science. 49:882-886. 2008
- Novel sequence elements define ancestral haplotypes of the region encompassing complement factor H. Human Immunology. 69:207-219. 2008
- Testing protocol and recruitment in the genes in myopia twin study. Ophthalmic Epidemiology. 15:140-147. 2008
- The role of educational attainment in refraction: the genes in myopia (GEM) twin study. Investigative Ophthalmology and Visual Science. 49:534-538. 2008
2007
Journal Articles Refereed
- A tag-single nucleotide polymorphisms approach to the vascular endothelial growth factor-A gene in age-related macular degeneration. Molecular Vision. 13:2148-2152. 2007
- Evaluation of accuracy in proband-reported family history and its determinants: The Genes in Myopia Family Study.. Optometry and Vision Science. 84:481-486. 2007
- Genetic mapping of myopia susceptibility loci. Investigative Ophthalmology and Visual Science. 48:4924-4929. 2007
- Heritability and shared environment estimates for myopia and associated ocular biometric traits: the genes in myopia (GEM) family study.. Human Genetics. 121:511-520. 2007
- Linkage replication of the MYP12 locus in common myopia. Investigative Ophthalmology and Visual Science. 48:4433-4439. 2007
- Vision-related quality of life comparison for emmetropes, myopes after refractive surgery, and myopes wearing spectacles or contact lenses. Journal of Refractive Surgery. 23:752-759. 2007
Journal Articles Unrefereed
- Discordant unilateral myopia in adult monozygotic twins.. Australian Orthoptic Journal. 39:17-18. 2007
Journal Articles Unrefereed Letters or Notes
- Analysis of the RDS/peripherin gene in age-related macular degeneration.. Clinical and Experimental Ophthalmology. 35:194-195. 2007
2006
Journal Articles Refereed
- Analysis of the Y402H variant of the complement factor H gene in age-related macular degeneration.. Investigative Ophthalmology and Visual Science. 47:4194-4198. 2006
- Apolipoprotein (APOE) gene is associated with progression of age-related macular degeneration (AMD).. Human Mutation. 27:337-342. 2006
- Blood storage at 4o C - factors involved in DNA yield and quality.. Journal of Laboratory & Clinical Medicine. 147:290-294. 2006
- Heritability of macular thickness determined by optical coherence tomography. Investigative Ophthalmology and Visual Science. 47:336-340. 2006
- Heritability of refractive error and ocular biometrics: The genes in myopia (GEM) twin study.. Investigative Ophthalmology and Visual Science. 47:4756-4761. 2006
- Refractive errors in twin studies.. Twin Research. 9:566-572. 2006
- Unraveling a complex genetic disease: Age-related macular degeneration.. Survey of Ophthalmology. 51:576-586. 2006
Journal Articles Unrefereed Letters or Notes
- Concordant bilateral Duane's Retraction Syndrome (type1) in female monozygotic twins.. Clinical and Experimental Ophthalmology. 34:495-497. 2006
Other Refereed Contribution to Refereed Journals
- Marked discordance for myopia in female monozygotic twins. Clinical and Experimental Ophthalmology. 34:285-287. 2006
- Mirror-image congenital estropia in Monozygotic twins.. Journal of Pediatric Ophthalmology and Strabismus. 43:170-171. 2006
2005
Research Book Chapters
- Genes and Age-Related Macular Degeneration . Macular Degeneration. Springer. 63-78. 2005
Journal Articles Refereed
- A Common Disease Haplotype for the Q368STOP Mutation of the Myocilin Gene in Australian and Canadian Glaucoma Families. American Journal of Ophthalmology. 140:760-762. 2005
- Evidence for a novel glaucoma locus at chromosome 3p21-22. Human Genetics. 117:249-257. 2005
- Linkage to 10q22 for Maximum Intraocular Pressure and 1p32 for Maximum Cup-to-Disc Ratio in an Extended Primary Open-Angle Glaucoma Pedigree. Investigative Ophthalmology and Visual Science. 46:3723-3729. 2005
- Methodology and Recruitment of Probands and Their Families for the Genes in Myopia (GEM) Study. Ophthalmic Epidemiology. 12:383-392. 2005
- The Q368STOP Myocilin Mutation in a Population-based Cohort: The Blue Mountains Eye Study. American Journal of Ophthalmology. 139:1125-1126. 2005
Other Refereed Contribution to Refereed Journals
- HMG CoA Reductase Inhibitors (Statins): Do They Have a Role in Age-related Macular Degeneration? . Survey of Ophthalmology. 50:194-206. 2005
2004
Journal Articles Refereed
- Analysis of optineurin (OPTN) gene mutations in subjects with and without glaucoma: the Blue Mountains Eye Study. Clinical and Experimental Ophthalmology. 32:518-522. 2004
- Analysis of the EFEMP1 gene in individuals and families with early onset drusen. Eye. 19:11-15. 2004
- Association of the M55L Q192R Paraoxonase Gene Polymorphisms With Age-Related Macular Degeneration. American Journal of Ophthalmology. 138:665-666. 2004
- The e2 and e4 Alleles of the Apolipoprotein Gene Are Associated with Age-Related Macular Degeneration. Investigative Ophthalmology and Visual Science. 45:1311-1315. 2004
Other Refereed Contribution to Refereed Journals
- Identification of a Mutation in the PKD2 Gene in a Family With Age-Related Macular Degeneration. American Journal of Medical Genetics. 127A:208-210. 2004
2003
Journal Articles Refereed
- Analysis of 15 primary open-angle glaucoma families from Australia identifies a founder effect for the Q368STOP mutation of myocilin. Human Genetics. 112:110-116. 2003
2002
Journal Articles Refereed
- Analysis of the Arg345Trp disease-associated allele of the EFEMPI gene in individuals with early onset drusen or familial age-related macular degeneration. Clinical and Experimental Ophthalmology. 30:419-423. 2002
- Generating mouse models of retinal disease using ENU mutagenesis. Vision Research. 42:479-485. 2002
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