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Polygenic risk of ischemic stroke is associated with cognitive ability

Findings from this study indicate that even in the absence of stroke, being at high polygenic risk of ischemic stroke is associated with lower cognit…

Translating aboriginal genomics — four letters closing the gap

Establishing a genomic reference for Australian Aboriginal populations

Age at surgery and outcomes of an undescended testis

We investigated the prevalence of UDT and examined rates of surgery and age at surgery in an Australian population.

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 Austral…

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

The -308 bp TNF gene polymorphism influences tumor necrosis factor expression in leprosy patients in Bahia State, Brazil

TNF mRNA expression was higher in leprosy patients compared to endemic controls, but did not differ significantly between clinical subgroups

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 fo…

Fine mapping under linkage peaks for symptomatic or asymptomatic outcomes of Leishmania infantum infection in Brazil

The transforming growth factor-beta pathway is important in the immunopathogenesis of Visceral leishmaniasis

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.