In about half of all patients with a suspected monogenic disease, genomic investigations fail to identify the diagnosis. A contributing factor is the difficulty with repetitive regions of the genome, such as those generated by segmental duplications. The ATAD3 locus is one such region, in which recessive deletions and dominant duplications have recently been reported to cause lethal perinatal mitochondrial diseases characterized by pontocerebellar hypoplasia or cardiomyopathy, respectively. ...

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

The effectiveness and safety profile of antiseptics in the treatment of chronic suppurative otitis media is uncertain ...

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

A significant reduction in severe influenza was observed in Australian children, possibly contributed to by improved vaccine coverage and high vaccine effectiveness ...

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

We reflect on the lessons learned from a recent genome‐wide association study of rheumatic heart disease with Aboriginal Australian participants ...

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

Neonatal dendritic cells generated form CD34+ cord blood progenitors have a higher inflammatory potential when exposed to viral than bacterial related stimuli ...

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

Infant exposure to coal mine fire emissions could be associated with long-term impairment of lung reactance ...

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

Acute Rheumatic Fever and Rheumatic Heart Disease is a concise, yet comprehensive, clinical resource highlighting must-know information on rheumatic heart disease and acute rheumatic fever from a global perspective ...

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

Children with Primary Central Nervous System Lymphoma and no immunodeficiency have a good outcome ...

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

The aim of this Cochrane Review was to find out if hearing loss caused by noise at work is being prevented by current interventions ...

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

Building Bridges demonstrates the centrality of trusting relationships for systemic change and the way in which meaningful engagement is at the core of both the process and the outcome ...

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