We introduce C1 CAGE, a method for the detection of transcript 5'-ends with an original sample multiplexing strategy in the C1TM microfluidic system ...

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

Traits associated with CVD, CRD and T2D in Aboriginal Australians provide novel insight into function of Arylsulphatase A Pseudodeficiency variants ...

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

Evidence for the existence of additional regulatory mechanisms of the expression of neurodegenerative disease-causing genes by antisense long noncoding RNAs ...

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

There is a critical need for the field to develop and implement strategies to understand the mechanisms underlying all rare diseases and translate these to clinical care ...

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

A comprehensive in depth gene expression/regulation profile in Mycobacterium tuberculosis-infected macrophages ...

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

This data set provides a useful reference point for genomic studies on Aboriginal Australians ...

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

Time-critical transcriptional events in the immune microenvironment are important for response to immune checkpoint blockade (ICB), yet these events are difficult to characterise and remain incompletely understood. Here, we present whole tumor RNA sequencing data in the context of treatment with ICB in murine models of AB1 mesothelioma and Renca renal cell cancer.  ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2024
• May 2024

Timo Lassmann T BSc (Hons) MSc PhD Feilman Fellow; Program Head, Precision Health and Team Lead, Computational Biology timo.lassmann@telethonkids.org.au Feilman Fellow; Program Head, Precision Health and Team Lead, Computational Biology Timo ...

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

To define clinical common data elements (CDEs) and a mandatory minimum data set (MDS) for genomic studies of cerebral palsy (CP). Method: Candidate data elements were collated following a review of the literature and existing CDEs. ...

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

Computer vision technology is advancing rare disease diagnosis to address unmet needs of the more than 300 million individuals affected globally; one in three rare diseases have a known facial phenotype. 3D face model reconstruction is a key driver of these advances. ...

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

Upper and lower airways are conserved in their transcriptional composition, and variations associated with disease are present in both nasal and tracheal epithelium ...

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

There are an estimated > 400 million people living with a rare disease globally, with genetic variants the cause of approximately 80% of cases. Next Generation Sequencing (NGS) rapidly identifies genetic variants however they are often of unknown significance. ...

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