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- Publications
- Influence
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants
- L. Fritsche, Wilmar Igl, +159 authors I. Heid
- Biology, Medicine
- Nature Genetics
- 21 December 2015
Advanced age-related macular degeneration (AMD) is the leading cause of blindness in the elderly, with limited therapeutic options. Here we report on a study of >12 million variants, including… Expand
Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people.
Pseudoexfoliation syndrome is a generalized disorder of the extracellular matrix, characterized by the pathological accumulation of abnormal fibrillar material in the anterior segment of the eye… Expand
The epsilon2 and epsilon4 alleles of the apolipoprotein gene are associated with age-related macular degeneration.
- P. Baird, E. Guida, Diep Chu, H. Vu, R. Guymer
- Biology, Medicine
- Investigative ophthalmology & visual science
- 1 May 2004
PURPOSE
To date, of all the genes studied in relation to age-related macular degeneration (AMD), the alleles of the apolipoprotein (apoE) gene have been the most consistently associated with disease.… Expand
Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration
- Yi Yu, Tushar R. Bhangale, +42 authors J. Seddon
- Biology, Medicine
- Human molecular genetics
- 10 June 2011
Despite significant progress in the identification of genetic loci for age-related macular degeneration (AMD), not all of the heritability has been explained. To identify variants which contribute to… Expand
Amyloid precursor protein processing and retinal pathology in mouse models of Alzheimer’s disease
- R. M. Dutescu, Q. Li, J. Crowston, C. Masters, P. Baird, J. Culvenor
- Biology, Medicine
- Graefe's Archive for Clinical and Experimental…
- 7 March 2009
BackgroundRetinal ganglion cell loss is considered to be a cause of visual impairment in Alzheimer`s patients. Alterations in amyloid precursor protein (APP) processing and amyloid-β (Aβ)… Expand
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia
- V. Verhoeven, P. Hysi, +105 authors C. Hammond
- Biology, Medicine
- Nature Genetics
- 1 March 2013
Refractive error is the most common eye disorder worldwide and is a prominent cause of blindness. Myopia affects over 30% of Western populations and up to 80% of Asians. The CREAM consortium… Expand
Hypomethylation of the IL17RC promoter associates with age-related macular degeneration.
- L. Wei, B. Liu, +23 authors R. Nussenblatt
- Biology, Medicine
- Cell reports
- 29 November 2012
Age-related macular degeneration (AMD) is the leading cause of irreversible blindness in the elderly population worldwide. Although recent studies have demonstrated strong genetic associations… Expand
Insights into the Genetic Architecture of Early Stage Age-Related Macular Degeneration: A Genome-Wide Association Study Meta-Analysis
- E. Holliday, A. Smith, +42 authors J. Wang
- Biology, Medicine
- PloS one
- 11 January 2013
Genetic factors explain a majority of risk variance for age-related macular degeneration (AMD). While genome-wide association studies (GWAS) for late AMD implicate genes in complement, inflammatory… Expand
Androgen Receptor Repeat Length Polymorphism Associated with Male-to-Female Transsexualism
- L. Hare, P. Bernard, F. J. Sánchez, P. Baird, V. Harley
- Biology, Medicine
- Biological Psychiatry
- 1 January 2009
BACKGROUND
There is a likely genetic component to transsexualism, and genes involved in sex steroidogenesis are good candidates. We explored the specific hypothesis that male-to-female transsexualism… Expand
Evaluating the association between keratoconus and the corneal thickness genes in an independent Australian population.
- S. Sahebjada, M. Schache, +4 authors P. Baird
- Medicine
- Investigative ophthalmology & visual science
- 17 December 2013
PURPOSE
A recent genome-wide association study (GWAS) identified six loci associated with central corneal thickness that also conferred associated risk of keratoconus (KC). We aimed to assess whether… Expand