Systematic sequencing of all X-chromosomal genes in patients with genetic evidence for X-chromosome locus involvement may resolve 58% of Fragile X-negative cases ...

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

Cord blood background IL-12 concentrations are important for protecting children from clinical malaria ...

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

Our results provide a possible functional link between Toxoplasma gondii infection and congenital/early life and adult neurological clinical signs ...

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

We review what is known about the diversity, life histories, host-parasite interactions and evolutionary relationships of trypanosomes in Australian wildlife ...

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

The genetic causes of intellectual disability (ID) are heterogeneous and include both chromosomal and monogenic etiologies. ...

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

Overall, we found that the regulatory variants in autism spectrum disorder cases were enriched in ASD-risk genes and genes involved in fetal neurodevelopment ...

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

Winning the support of a remote Aboriginal community paved the way for a pioneering genetics study. ...

• 1. Telethon Kids Institute
• News & Events
• News & Events at Telethon Kids
• 2016
• May

Latest news Join the conversation The Autism Research Team, based in Western Australia at the Telethon Kids Institute, investigates the genetic and ...

The Indigenous peoples of Australia have a rich linguistic and cultural history. How this relates to genetic diversity remains largely unknown because of their limited engagement with genomic studies. Here we analyse the genomes of 159 individuals from four remote Indigenous communities, including people who speak a language (Tiwi) not from the most widespread family (Pama-Nyungan). This large collection of Indigenous Australian genomes was made possible by careful community engagement and consultation. ...

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

The Genetics and Health Team's priorities lie in understanding the biological mechanisms behind development of a range of rare and complex diseases, to help improve diagnosis, treatment and prevention both in Australian populations and internationally. ...

• 1. Telethon Kids Institute
• Our research
• Past teams