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

This study contributes to our understanding of the genetic diversity of NMC, an important step towards finding therapeutic targets for a disease that is... ...

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

This data set provides a useful reference point for genomic studies on Aboriginal Australians ...

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

Neisseria meningitidis is commensal of the human pharynx and occasionally invades the host, causing the life-threatening illness invasive meningococcal disease. The meningococcus is a highly diverse and adaptable organism thanks to natural competence, a propensity for recombination, and a highly repetitive genome. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• December 2023

Autism spectrum disorders are complex, with a strong genetic basis. Genetic research in autism spectrum disorders is limited by the fact that these disorders are largely heterogeneous so that patients are variable in their clinical presentations. To address this limitation, we investigated the genetics of individual dimensions of the autism spectrum disorder phenotypes, or autistic-like traits. These autistic-like traits are continuous variations in autistic behaviours that occur in the general population. ...

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

Our results show perturbation of host mitochondrial function following T. gondii infection that likely impacts on pathogenesis of disease. ...

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

Genome sequence of Sahul64, an H. pylori strain isolated from an indigenous Australian ...

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

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

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

Otitis media (OM) is a common childhood disease characterised by middle ear inflammation following infection ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2011
• July 2011

Jenefer Timo Carol Sarra Helen Vanessa Blackwell Lassmann Bower Jamieson Leonard Fear JM T C SE HM VF BSc with First Class Honours, PhD, DSc, FMedSci, FAA BSc (Hons) MSc PhD MBBS MSc PhD FAFPHM DLSHTM FPHA BSc (Hons) MSc PhD MBChB MPH BSc (Hons), ...

• 1. Telethon Kids Institute
• Our research
• Past teams
• Genetics and Health

An estimated 3.5%-5.9% of the global population live with rare diseases, and approximately 80% of these diseases have a genetic cause. Rare genetic diseases are difficult to diagnose, with some affected individuals experiencing diagnostic delays of 5-30 years. Next-generation sequencing has improved clinical diagnostic rates to 33%-48%. In a majority of cases, novel variants potentially causing the disease are discovered.  ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2024
• January 2024

Lung function is highly heritable and differs between the sexes throughout life. However, little is known about sex-differential genetic effects on lung function. We aimed to conduct the first genome-wide genotype-by-sex interaction study on lung function to identify genetic effects that differ between males and females. ...

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