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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

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...

Polymorphism in a lincRNA Associates with a Doubled Risk of Pneumococcal Bacteremia in Kenyan Children

Identified an association between polymorphisms in a long intergenic non-coding RNA (lincRNA) gene (AC011288.2) and pneumococcal bacteremia

Genome-wide association study of IgG1 responses to the choline-binding protein PspC of Streptococcus pneumoniae

Delayed development of antibodies to S. pneumoniae in infancy is associated with the development of atopy and asthma.

Prevalence and risk factors for parent-reported recurrent otitis media during early childhood

The prevalence of parent-reported rOM was 26.8% (611/2280) and 5.5% (125/2280) for severe rOM in the Study.

Genetic and environmental factors in the aetiology of hypospadias

The increasing use of assisted reproductive techniques and hormonal manipulation during pregnancy may have been associated with an apparent rise in the...

First genome-wide association study in an Australian Aboriginal population provides insights into genetic risk factors for body mass index and type 2 diabetes

A body mass index (BMI) >22kg/m2 is a risk factor for type 2 diabetes (T2D) in Aboriginal Australians.

Folate pathway gene polymorphisms, maternal folic acid use, and risk of childhood acute lymphoblastic leukaemia

Several studies suggest that maternal folic acid supplementation before or during pregnancy protects against childhood acute lymphoblastic leukaemia (ALL).

Comparative analysis of the full genome of Helicobacter pylori isolate sahul64 identifies genes of high divergence

Genome sequence of Sahul64, an H. pylori strain isolated from an indigenous Australian

Prevalence and risk factors for parent-reported recurrent otitis media during early childhood

The objective was to describe the prevalence and risk factors of recurrent otitis media (rOM) in an urban Australian population at 3 years of age.