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Reference exome data for a Northern Brazilian populationExome sequencing is widely used in the diagnosis of rare genetic diseases and provides useful variant data for analysis of complex diseases. There is not always adequate population-specific reference data to assist in assigning a diagnostic variant to a specific clinical condition.
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A microbiome case-control study of recurrent acute otitis media identified potentially protective bacterial generaWe characterised the nasopharyngeal microbiome of these children in comparison to children with rAOM to identify potentially protective bacteria.
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The genetic associations of acute anterior uveitis and their overlap with the genetics of ankylosing spondylitisThese 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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Expression profiling of Sudanese visceral leishmaniasis patients pre- and post-treatment with sodium stibogluconateThese results contribute to our understanding of immunopathology associated with visceral leishmaniasis and response to sodium stibogluconate treatment
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Protective benefit of predominant breastfeeding against otitis media may be limited to early childhood: results from a prospective birth cohort studyOur findings are in line with a number of epidemiological studies which show a positive association between breastfeeding and OM in early childhood
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The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical serviceThe Rare and Undiagnosed Diseases Diagnostic Service refers to a genomic diagnostic platform operating within the Genetic Services of Western Australia
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Anti-Interleukin-10 Unleashes Transcriptional Response to Leishmanial Antigens in Visceral Leishmaniasis PatientsVisceral leishmaniasis (VL; Leishmania donovani) cases produce interferon-γ and tumor necrosis factor in response to soluble leishmanial antigen in whole-blood assays. Using transcriptional profiling, we demonstrate the impact of interleukin-10, a cytokine implicated in VL, on this response.
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A retrospective study of Babesia macropus associated with morbidity and mortalityThis is a retrospective study of 38 cases of infection by Babesia macropus, associated with a syndrome of anaemia and debility in hand-reared or free-ranging...
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Examining ERBB2 as a candidate gene for susceptibility to leprosy (Hansen's disease) in BrazilThis study examines whether polymorphisms in the ERBB2 gene were associated with leprosy in primary and replication cohorts from northeastern Brazil.
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Reference exome data for Australian Aboriginal populations to support health-based researchOur data set provides a useful reference point for genomic studies on Aboriginal Australians