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Research

The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical service

The Rare and Undiagnosed Diseases Diagnostic Service refers to a genomic diagnostic platform operating within the Genetic Services of Western Australia

Research

Expression profiling of Sudanese visceral leishmaniasis patients pre- and post-treatment with sodium stibogluconate

These results contribute to our understanding of immunopathology associated with visceral leishmaniasis and response to sodium stibogluconate treatment

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The genetic associations of acute anterior uveitis and their overlap with the genetics of ankylosing spondylitis

These findings also suggest that variants in ERAP1 have a differential impact on the risk of AAU when compared with AS, and hence the genetic risk for AAU...

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A microbiome case-control study of recurrent acute otitis media identified potentially protective bacterial genera

We characterised the nasopharyngeal microbiome of these children in comparison to children with rAOM to identify potentially protective bacteria.

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A Genome-Wide Search for Type 2 Diabetes Susceptibility Genes in an Extended Arab Family

We performed a discovery GWAS in an extended UAE family (N = 178; 66 diabetic; 112 healthy) genotyped on the Illumina Human 660 Quad Beadchip, with...

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Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity

To gain further insight into the genetic architecture of psoriasis, we conducted a meta-analysis of 3 genome-wide association studies (GWAS) and 2...

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FLI1 polymorphism affects susceptibility to cutaneous leishmaniasis in Brazil

Mapping murine genes controlling cutaneous leishmaniasis (CL) identified Fli1 as a candidate influencing resistance to L. major and enhanced wound healing.

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Classification and regression tree and spatial analyses reveal geographic heterogeneity

Genome wide linkage studies (GWLS) have provided evidence for loci controlling visceral leishmaniasis on Chromosomes 1p22, 6q27, 22q12 in Sudan...

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Structural and IgE binding analyses of recombinant Der p 2 expressed from the hosts Escherichia coli and Pichia pastoris

The house dust mite allergen Der p 2 is one of the most important indoor allergens associated with allergic disease.

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Genetics of Otitis Media

To determine the genes that play a role in childhood susceptibility to severe OM we established the Western Australian Family Study of OM.