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

Over 400 million people worldwide are living with a rare disease. Next Generation Sequencing identifies potential disease causative genetic variants. However, many are identified as variants of uncertain significance and require functional laboratory validation to determine pathogenicity, and this creates major diagnostic delays. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• February 2022

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

This study aims to establish FASD prevalence among sentenced young people in detention in Western Australia (WA) ...

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

UVR or sunlight exposure may be an effective means of suppressing the development of obesity and MetS, through mechanisms that are independent of vitamin D ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2014
• November 2014

Present a valuable resource for drug discovery and have identified ROM as a promising therapeutic for MLL-rearranged iALL ...

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

This paper reports some of the findings from the Western Australian Influenza Vaccine Effectiveness Study, commenced in 2008, to evaluate a program providing... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2014
• April 2014

In girls and women with Rett syndrome, we assessed the accuracy of the StepWatch Activity Monitor™ and investigated relationships between daily step counts,... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2012
• January 2012

Data on asymptomatic identification rates of respiratory viruses are limited, particularly in Indigenous populations, who suffer a high burden of OM. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2010
• June 2010

To investigate temporal trends in admission rates for acute lower respiratory infections (ALRI) in a total population birth cohort of non-Aboriginal and... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2007
• June 2007