We analyzed two large-scale surveys, and found high rates of smoking in people with mood disorders and both with and without substance dependence disorders. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2012
• April 2012

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

Autism omics research has historically been reductionist and diagnosis centric, with little attention paid to common co-occurring conditions (for example, sleep and feeding disorders) and the complex interplay between molecular profiles and neurodevelopment, genetics, environmental factors and health. Here we explored the plasma lipidome in 765 children (485 diagnosed with autism spectrum disorder (ASD)) within the Australian Autism Biobank. ...

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

Mitochondrial energy metabolism plays an important role in the pathophysiology of insulin resistance. Recently, a missense N437S variant was identified in the MRPP3 gene, which encodes a mitochondrial RNA processing enzyme within the RNase P complex, with predicted impact on metabolism. We used CRISPR-Cas9 genome editing to introduce this variant into the mouse Mrpp3 gene and show that the variant causes insulin resistance on a high-fat diet. ...

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

An optimized, rapid method for creating markerless isogenic mutations that combines Gibson assembly cloning with a new temperature-sensitive plasmid, pLZts ...

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

We identified several novel candidate genes which warrant further analysis in cohorts matched more precisely for clinical phenotypes. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2012
• January 2012

Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing... ...

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

Asbestos exposure is the main risk factor for malignant pleural mesothelioma (MPM), a rare aggressive tumor. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2013
• April 2013

Childhood aggressive behavior (AGG) has a substantial heritability of around 50%. Here we present a genome-wide association meta-analysis (GWAMA) of childhood AGG, in which all phenotype measures across childhood ages from multiple assessors were included. We analyzed phenotype assessments for a total of 328 935 observations from 87 485 children aged between 1.5 and 18 years, while accounting for sample overlap. ...

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

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