In clinical genetics, establishing an accurate nosology requires analysis of variations in both aetiology and the resulting phenotypes. At the phenotypic level, recognising typical facial gestalts has long supported clinical and molecular diagnosis; however, the objective analysis of facial phenotypic variation remains underdeveloped. ...

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

Our goal was to identify genetic risk factors for severe otitis media (OM) in Aboriginal Australians. ...

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

We identified numerous CpGs differentially methylated in relation to gestational age at birth that appear to reflect fetal developmental processes across tissues ...

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

Our results identify a pretreatment tumor microenvironment that predicts response to immune checkpoint blockade, which can be therapeutically attained ...

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

Our result highlighted that miRNA-target gene network contributes to human disease genetics in a cell type-specific manner ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2018
• December 2018

The promoter landscape of several non-human model organisms is far from complete ...

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

Our results suggest a complex but highly coordinated regulation of adipogenesis ...

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

The generation of myeloid cells from their progenitors is regulated at the level of transcription by combinatorial control of key transcription factors... ...

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

This study reports that telomerase reverse transcriptase extensively affects the expression levels of mature microRNAs. ...

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

Advances in screening and diagnostics have changed the way in which we identify and diagnose congenital anomalies. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• May 2023