This study compared socio-demographic, clinical and genetic characteristics of the international database, InterRett, and the population-based Australian... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2009
• February 2009

Environmental exposures including maternal inflammation, diet, nutrient balance, microbial colonization and toxin exposures can directly and indirectly... ...

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

HealthNuts is a single-centre, multi-wave, population-based longitudinal study designed to assess prevalence, determinants, natural history and allergy... ...

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

Blood pressure is a heritable trait influenced by several biological pathways and responsive to environmental... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2011
• October 2011

Levels of circulating glucose are tightly regulated. To identify new loci influencing glycemic traits, we performed meta-analyses of 21 genome-wide... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2010
• February 2010

The natural history of MECP2 duplication syndrome (MDS), a rare X-linked neurodevelopmental disorder with an estimated birth prevalence of 1/150,000 live births, is poorly understood due to a lack of clinical data collected for research. Such information is critical to the understanding of disease progression, therapeutic endpoints and outcome measures for clinical trials, as well as the development of therapies and orphan products. ...

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

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition whose biological basis is yet to be elucidated. The Australian Autism Biobank (AAB) is an initiative of the Cooperative Research Centre for Living with Autism (Autism CRC) to establish an Australian resource of biospecimens, phenotypes and genomic data for research on autism. ...

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

These results highlight how UNICORN can enable reliable, powerful, and convenient genetic association analyses without access to the individual-level data ...

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

We investigated immune and non-immune related genes to determine other factors required for the development of Abacavir hypersensitivity syndrome ...

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

These findings also suggest that variants in ERAP1 have a differential impact on the risk of AAU when compared with AS, and hence the genetic risk for AAU... ...

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

Streptococcus dysgalactiae subspecies equisimilis and Streptococcus pyogenes share skin and throat niches with extensive genomic homology and horizontal gene transfer possibly underlying shared disease phenotypes. ...

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

Diffuse midline glioma (DMG), including tumors diagnosed in the brainstem (diffuse intrinsic pontine glioma; DIPG), are uniformly fatal brain tumors that lack effective treatment. ...

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