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

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 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

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

Our findings are in line with a number of epidemiological studies which show a positive association between breastfeeding and OM in early childhood ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2017
• February 2017

The Rare and Undiagnosed Diseases Diagnostic Service refers to a genomic diagnostic platform operating within the Genetic Services of Western Australia ...

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

These results contribute to our understanding of immunopathology associated with visceral leishmaniasis and response to sodium stibogluconate treatment ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2017
• June 2017

We characterised the nasopharyngeal microbiome of these children in comparison to children with rAOM to identify potentially protective bacteria. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2018
• February 2018

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 performed a discovery GWAS in an extended UAE family (N = 178; 66 diabetic; 112 healthy) genotyped on the Illumina Human 660 Quad Beadchip, with... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2013
• August 2013