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SeqNextGen: Translating NextGen Sequencing for the Diagnosis of Developmental Anomalies and Rare DiseasesDevelopment and implementation of a person-centric Model of Care for people living with developmental anomalies and rare diseases in Western Australia.
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Defining the microbes in the middle ear and upper respiratory tract that lead to recurrent ear infections – a metagenomic studyUsing the latest sequencing technology to examine the microbial composition of the middle ear & nasopharyngeal region, the site of initial colonization of OM
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Human genetics of leishmania infectionsGWAS results provide firm confirmation for the importance of antigen presentation and the regulation of IFNγ in determining the outcome of Leishmania infections
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Common variants near ATM are associated with glycemic response to metformin in type 2 diabetesMetformin is the most commonly used pharmacological therapy for type 2 diabetes. We report a genome-wide association study for glycemic response to metformin...
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Interleukin 10 gene polymorphisms and development of post kala-azar dermal leishmaniasis in a selected sudanese populationPost kala-azar dermal leishmaniasis (PKDL) is a cutaneous form of disease that develops at variable times after individuals have received treatment.
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Genetic and functional evidence for a locus controlling otitis media at chromosome 10q26.3Otitis media (OM) is a common childhood disease characterised by middle ear effusion and inflammation.
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Comparison of Methods to Account for Relatedness in Genome-Wide Association Studies with Family-Based DataHere we compare the performance of several LMM approaches (and software implementations, including EMMAX, GenABEL, FaST-LMM, Mendel, GEMMA and MMM) via their...
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Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locusWe found a novel association between intraocular pressure and a common variant at 7p21 near to GLCCI1 and ICA1.
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Candidate gene association study for diabetic retinopathy in persons with type 2 diabetes: the Candidate gene Association Resource (CARe)To investigate whether variants in cardiovascular candidate genes, some of which have been previously associated with type 2 diabetes (T2D), diabetic...
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Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosisMultiple sclerosis is a common disease of the central nervous system in which the interplay between inflammatory and neurodegenerative processes typically...