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

Measles is a highly contagious infectious disease that can cause severe, long-term complications in children. ...

• 1. Telethon Kids Institute
• Our research
• Research Topics

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

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 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

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 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

This report regards the health & wellbeing of Australian children & adolescents. Based on a survey conducted in the homes of over 6,300 families with... ...

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