This 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... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2015
• February 2015

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... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2016
• January 2016

We recently identified C. pseudodiphtheriticum and D. pigrum as the major nasopharyngeal species associated with resistance to recurrent ear infections ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2019
• November 2019

The regulation of Transketolase by oxythiamine and/or vitamin B1 may therefore be associated with response to the modulation of NET formation ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2019
• August 2019

Visceral 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. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2021
• February 2021

Exome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25-30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patients. A comprehensive web-based patient report is generated in which all deleterious variants can be filtered by gene, variant characteristics, OMIM disease and Phenolyzer scores, and all are annotated with an ACMG classification and links to ClinVar. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2020
• December 2020

Exome 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. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2020
• October 2020

TNF mRNA expression was higher in leprosy patients compared to endemic controls, but did not differ significantly between clinical subgroups ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2016
• January 2016

The transforming growth factor-beta pathway is important in the immunopathogenesis of Visceral leishmaniasis ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2016
• January 2016

The prevalence of parent-reported rOM was 26.8% (611/2280) and 5.5% (125/2280) for severe rOM in the Study. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2015
• April 2015