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

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

Increases in ASD was not only limited to advancing paternal or maternal age alone but also to differences parental age including younger or older similarly age ...

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

CAGEd-oPOSSUM can identify transcription factors that act as key regulators of genes involved in specific mammalian cell and tissue types ...

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

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

Systematic comparison of recovered cell types and their transcriptional profiles across the workflows has highlighted protocol-specific biase ...

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

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

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

The absence of a diagnostic test for acute rheumatic fever (ARF) is a major impediment in managing this serious childhood condition. ARF is an autoimmune condition triggered by infection with group A Streptococcus. ...

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