Uniformly low expression of IFN and IFNGR1 in PKDL skin biopsies could explain parasite persistence ...

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

The interaction between genotype and Epstein Barr virus emerges as relevant for multiple sclerosis etiology. ...

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

Liz Carol Milne Bower E C MPH PhD MBBS MSc PhD FAFPHM DLSHTM FPHA Honorary Emeritus Fellow Senior Principal Research Fellow, Alcohol and Pregnancy & FASD Research; Director, FASD Research Australia CRE 08 6319 1813 carol.bower@telethonkids.org.au ...

• 1. Telethon Kids Institute
• Our research
• Past teams
• Child Epidemiology

KMT2A-rearranged infant acute lymphoblastic leukemia (ALL) represents the most refractory type of childhood leukemia. To uncover the molecular heterogeneity of this disease, we perform RNA sequencing, methylation array analysis, whole exome and targeted deep sequencing on 84 infants with KMT2A-rearranged leukemia. ...

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

The use of spoken and written language is a fundamental human capacity. Individual differences in reading- and language-related skills are influenced by genetic variation, with twin-based heritability estimates of 30 to 80% depending on the trait. The genetic architecture is complex, heterogeneous, and multifactorial, but investigations of contributions of single-nucleotide polymorphisms (SNPs) were thus far underpowered. ...

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

Embryonal tumours with multi-layered rosettes (ETMRs) are a newly recognised, rare paediatric brain tumour with alterations of the C19MC microRNA locus. Due to varied diagnostic practices and scarce clinical data, disease features and determinants of outcomes for these tumours are poorly defined. We did an integrated clinicopathological and molecular analysis of primary ETMRs to define clinical phenotypes, and to identify prognostic factors of survival and key treatment modalities for this orphan disease. ...

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

Wall teichoic acid may be important for protecting S. aureus against exposure to bile ...

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

UVB-induced p53-mediated cell cycle arrest and apoptosis are reduced in the presence of heat stress, leading to increased survival of DNA damaged cells ...

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

This novel approach aimed to prevent inflated hazard ratios arising from reverse causation, and allow identification of associations beyond those already... ...

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

The aim of our study was to investigate whether CBL0137 has potential as a therapeutic and chemopotentiating compound in MLL-r leukemia ...

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

We investigated the relationship between the sensitivity of hundreds of cell lines to hundreds of drugs, and the relative expression levels of the targets ...

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

Clinical presentations and genetic variations in Cyclin-dependent kinase-like 5 deficiency disorder based on a systematic literature review and experience ...

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