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

Examining the overlap between genes perturbed in the KD-CAGE experiments and genes with a ChIP-seq peak within 50 kb of their promoter, we identified direct... ...

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

A systematic comparison of the cellular and molecular changes in neurons in vitro induced by low intensity magnetic stimulation at different frequencies. ...

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

Timo Chin Wee Timothy Chapman Kathryn Farley Published in science published in nature published in nature published in nature published in nature ...

• 1. Telethon Kids Institute
• Our research
• Chronic and Severe Diseases
• Precision Health

While chemotherapy remains the first-line treatment for many cancers, it is still unclear what distinguishes responders from non-responders. Here, we characterize the chemotherapy-responsive tumor microenvironment in mice, using RNA sequencing on tumors before and after cyclophosphamide, and compare the gene expression profiles of responders with progressors. ...

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

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

To describe trends, age, and sex-specific patterns of population hospital admissions with a diagnosis of craniosynostosis (CS) in Australia. Population data for hospital separations (in-patient) from public and private hospitals (July 1996-June 2018) were obtained from the publicly available Australian Institute of Health and Welfare (AIHW) National Hospital Morbidity Database. ...

• 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

The biological determinants of the response to immune checkpoint blockade (ICB) in cancer remain incompletely understood. Little is known about dynamic biological events that underpin therapeutic efficacy due to the inability to frequently sample tumours in patients. ...

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

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