We report an 8 year old girl who was diagnosed with THES by the Undiagnosed Disease Program-WA with compound heterozygous pathogenic variants in SKIV2L ...

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

Scedosporium spp. are the second most prevalent filamentous fungi after Aspergillus spp. recovered from cystic fibrosis (CF) patients in various regions of the world. Although invasive infection is uncommon prior to lung transplantation, fungal colonization may be a risk factor for invasive disease with attendant high mortality post-transplantation. Abundant in the environment, Scedosporium aurantiacum has emerged as an important fungal pathogen in a range of clinical settings. ...

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

Infants aged <6 months are vulnerable to severe influenza disease and no vaccine is approved for use in this age group. We aimed to describe the epidemiology, risk factors associated with severe outcomes and management of influenza in Australian infants aged <6 months. ...

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

We evaluate our ability to recruit participants for the Kidskin Young Adult Myopia Study, a follow-up of the Kidskin Study ...

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

We provided a broad atlas of miRNA expression and promoters in primary mammalian cells, establishing a foundation for detailed analysis of miRNA. ...

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

The transmission dynamics of RSV infection among young children are still poorly understood and mathematical modelling can be used to better understand... ...

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

The rise in food allergy is more rapid than genetic deviation would allow and the current consensus is that environmental factors integrally linked to the... ...

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

To describe trends in the age-specific incidence of serogroup B invasive meningococcal disease (IMD) in Australia, 1999-2015 ...

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

This study provides an initial insight into the TFs of cerebellar granule cells that might be important for development ...

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

Invasive Group B Streptococcus remains a leading cause of infant morbidity and mortality. Intrapartum antibiotic prophylaxis has been implemented in many countries with a reduction in early-onset disease, but an effective vaccine may further reduce the disease burden. Candidate vaccines targeting capsular polysaccharides and surface proteins are now in clinical trials.  ...

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