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Personalised analytics for rare disease diagnosticsHere we focus on the problem of prioritising variants with respect to the observed disease phenotype
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A comparative molecular and 3-dimensional structural investigation into cross-continental and novel avian Trypanosoma spp. in AustraliaHere, we confirm four intercontinental species of avian trypanosomes in native Australian birds, and identify a new avian Trypanosoma.
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Genome-Wide Association Study to Identify the Genetic Determinants of Otitis Media Susceptibility in ChildhoodWe identified several novel candidate genes which warrant further analysis in cohorts matched more precisely for clinical phenotypes.
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Does otitis media in early childhood affect later behavioural development? Results from the Western Australian Pregnancy Cohort (Raine) StudyThe relationship between early life episodes of otitis media and later behavioural development with adjustment for confounders.
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Epigenetic dysregulation of host gene expression in Toxoplasma infection with specific reference to dopamine and amyloid pathwaysOur results provide a possible functional link between Toxoplasma gondii infection and congenital/early life and adult neurological clinical signs
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Confirmation of childhood acute lymphoblastic leukemia Variants, ARID5B and IKZF1, and interaction with parental environmental exposuresThe polygenic nature of childhood ALL predisposition together with the timing of environmental triggers may hold vital clues for disease etiology.
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Genetic and functional evidence for a role for SLC11A1 in susceptibility to otitis media in early childhood in a Western Australian populationOtitis media (OM) is a common disease in early childhood characterised by inflammation of the middle ear.
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Cytokine responses to novel antigens in a peri-urban population in Brazil exposed to Leishmania infantum chagasiVisceral leishmaniasis (VL) is fatal if untreated, and there are no vaccines for this disease
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Association of a NOD2 gene polymorphism and T-helper 17 cells with presumed ocular toxoplasmosisWe assessed 30 sibships and 89 parent/case trios of presumed ocular toxoplasmosis (POT) to evaluate associations with polymorphisms in the NOD2 gene.