The objective of this study was to investigate whether maternal coffee and/or tea consumption during the last 6 months of pregnancy was associated with risk... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2011
• January 2011

To investigate whether maternal coffee and/or tea consumption during the last 6 months of pregnancy was associated with risk of childhood ALL. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2011
• February 2011

Otitis media (OM) is a common childhood disease characterised by middle ear effusion and inflammation. ...

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

Characterized by early-onset seizures, global developmental delay and severe motor deficits, CDKL5 deficiency disorder is caused by pathogenic variants in the cyclin-dependent kinase-like 5 gene. Previous efforts to investigate genotype-phenotype relationships have been limited due to small numbers of recurrent mutations and small cohort sizes. Using data from the International CDKL5 Disorder Database we examined genotype-phenotype relationships for 13 recurrent CDKL5 variants and the previously analyzed historic variant groupings. We have applied the CDKL5 Developmental Score (CDS) and an adapted version of the CDKL5 Clinical Severity Assessment (CCSA), to grade the severity of phenotype and developmental outcomes for 285 individuals with CDKL5 variants. ...

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

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

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

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

Did you know? What's next CF is the most common chronic, life-shortening genetic condition affecting young Australians. About 1 in 25 people carry a ...

• 1. Telethon Kids Institute
• Our research
• Research Impact
• 2022
• Paradigm shift

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