Epigenetics links perinatal influences with later obesity. We identifed differentially methylated CpG (dmCpG) loci measured at 17 years associated with concurrent adiposity measures and examined whether these were associated with hsCRP, adipokines, and early life environmental factors. Genome-wide DNA methylation from 1192 Raine Study participants at 17 years, identified 29 dmCpGs associated with body mass index, 10 with waist circumference and 9 with subcutaneous fat thickness. ...

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

Here we focus on the problem of prioritising variants with respect to the observed disease phenotype ...

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

In WA, 60,000 kids live with a rare disease, and of those about half do not have a diagnosis. At Telethon Kids, researchers are leading the charge in developing a method to identify genetic variations, so that kids like Charlotte can get answers. ...

• 1. Telethon Kids Institute
• News & Events
• News & Events at Telethon Kids
• 2020
• October

Here, we present the production and quality control of CAGEscan libraries from 56 FANTOM5 RNA sources ...

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

Identified romidepsin as a promising therapeutic for mixed lineage leukemia (MLL)-rearranged infant acute lymphoblastic leukemia ...

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

This study helps us understand how cancer cells are regulated by key genes and their corresponding networks to alter their fate in response to specific... ...

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

The FANTOM5 cerebellum time series is a high-quality transcriptome database for functional investigation of gene regulatory networks in cerebellar development ...

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

Bubble CPAP may be used in infants with suspected or confirmed COVID-19. Electrostatic filters may reduce cross infection. This study aims to determine if including a filter in the bubble CPAP circuit impacts stability of pressure delivery. A new electrostatic filter was placed before (pre) or after (post) the bubble CPAP generator, or with no filter (control) in an in vitro study. Pressure was recorded at the nasal interface for 18 h (6 L/min; 7 cm H2O) on 3 occasions for each configuration. Filter failure was defined as pressure >9 cm H2O for 60 continuous minutes. The filter was weighed before and after each experiment. ...

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

Arguably the most basic step in the analysis of next generation sequencing data (NGS) involves the extraction of mappable reads from the raw reads... ...

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