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Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal AustraliansTraits associated with CVD, CRD and T2D in Aboriginal Australians provide novel insight into function of Arylsulphatase A Pseudodeficiency variants
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Association between male genital anomalies and adult male reproductive disorders: a population-based data linkage study spanning more than 40 yearsWe provide new evidence to support current guidelines for orchidopexy before age 18 months to decrease the risk of future testicular cancer and infertility
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The correlation between reading and mathematics ability at age twelve has a substantial genetic componentDissecting how genetic and environmental influences impact on learning is helpful for maximizing numeracy and literacy.
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Genome-wide association study of vitamin D levels in children: replication in the Western Australian Pregnancy Cohort (Raine) studyThis genome-wide association study (GWAS) utilises data from the Western Australian Pregnancy Cohort (Raine) Study for 25-hydroxyvitamin D (25(OH)D) levels...
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Genome-Wide Analysis of Genetic Risk Factors for Rheumatic Heart Disease in Aboriginal Australians Provides Support for Pathogenic Molecular MimicryRheumatic heart disease (RHD) after group A streptococcus (GAS) infections is heritable and prevalent in Indigenous populations. Molecular mimicry between human and GAS proteins triggers proinflammatory cardiac valve-reactive T cells.
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Toxoplasma Modulates Signature Pathways of Human Epilepsy, Neurodegeneration & Cancer.disease-deconvolution" identified associations between the parasite-brain interactions and epilepsy, movement disorders, Alzheimer's disease, and cancer.
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Candidate gene analysis supports a role for polymorphisms at TCF7L2 as risk factors for type 2 diabetes in SudanMultiethnic associations between T2D and SNPs at TCF7L2, CAPN10 and HHEX extend to Sub-Saharan Africa, specifically Sudan
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Polymorphism in a lincRNA Associates with a Doubled Risk of Pneumococcal Bacteremia in Kenyan ChildrenIdentified an association between polymorphisms in a long intergenic non-coding RNA (lincRNA) gene (AC011288.2) and pneumococcal bacteremia
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Reference genotype and exome data from an Australian Aboriginal population for health-based researchThis data set provides a useful reference point for genomic studies on Aboriginal Australians
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Evidence for associations between the purinergic receptor P2X(7) (P2RX7) and toxoplasmosisCongenital Toxoplasma gondii infection can result in intracranial calcification, hydrocephalus and retinochoroiditis. Acquired infection is commonly associated