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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 Australia

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 for AAU...

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

Determinants for progression from asymptomatic infection to symptomatic visceral leishmaniasis: A cohort study

We confirmed the strong association between high DAT and/or rK39 titers and progression to disease among asymptomatic subjects

HLA-DR Class II expression on myeloid and lymphoid cells in relation to HLA-DRB1 as a genetic risk factor for visceral leishmaniasis

To understand how HLA-DR contributes to disease pathogenesis, we examined expression at the protein level in circulating myeloid and lymphoid cells of VL patients

Association between male genital anomalies and adult male reproductive disorders: a population-based data linkage study spanning more than 40 years

Undescended testes is associated with an increased risk of testicular cancer and male infertility, and decreased paternity

Association between male genital anomalies and adult male reproductive disorders: a population-based data linkage study spanning more than 40 years

We provide new evidence to support current guidelines for orchidopexy before age 18 months to decrease the risk of future testicular cancer and infertility

Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians

Traits associated with CVD, CRD and T2D in Aboriginal Australians provide novel insight into function of Arylsulphatase A Pseudodeficiency variants

An in silico pipeline to filter the Toxoplasma gondii proteome for proteins that could traffic to the host cell nucleus and influence host cell epigenetic regulation

To identify genes with putative epigenetic functions, we developed an in silico pipeline to interrogate the T. gondii proteome of 8313 proteins

Comparative analyses of whole genome sequences of Leishmania infantum isolates from humans and dogs in northeastern Brazil

Overall the analyses do not suggest individual sequence variants account for differences in clinical outcome or adaptation to different hosts.