The Undiagnosed Diseases Network International was established with the major aims of providing diagnoses to patients ...

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

MenABCWY QUINTET Study Meningococcal disease is a rare but serious disease that can result in death if not recognised and treated quickly. There are ...

• Wesfarmers Centre of Vaccines & Infectious Diseases
• Our research
• Vaccine Trials Group
• 2020 VTG Christmas Update

Aleksandra Filipovska AF BSc PhD Louis Landau Chair in Child Health Research; NHMRC Leadership Fellow; Deputy Director, ARC Centre of Excellence for ...

• 1. Telethon Kids Institute
• Projects

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

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

We describe contemporary antifungal use in neonates, with point-prevalence survey data from the National Antimicrobial Prescribing Survey across Australian hospitals from 2014 to 2018. ...

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

Identifying the causal variant for diagnosis of genetic diseases is challenging when using next-generation sequencing approaches and variant prioritization tools can assist in this task. These tools provide in silico predictions of variant pathogenicity, however they are agnostic to the disease under study. We previously performed a disease-specific benchmark of 24 such tools to assess how they perform in different disease contexts. ...

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

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

This paper presents a response to the Camarata (2014) lead article regarding the accuracy and effectiveness of early identification and early intervention... ...

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

Free public seminar - we will be discussing how neighbourhoods provide opportunities (or barriers) for kids' play, physical activity, health and development. ...

• 1. Telethon Kids Institute
• News & Events
• News & Events at Telethon Kids
• 2014
• August