In this paper we conduct a genome-wide screen and follow-up study of expressive vocabulary in toddlers of European descent from up to four studies of the... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2014
• September 2014

To further explore the effect of disorder-associated genes on cognitive functions, we investigated whether they play a role in broader cognitive traits. ...

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

Autism spectrum disorders are complex, with a strong genetic basis. Genetic research in autism spectrum disorders is limited by the fact that these disorders are largely heterogeneous so that patients are variable in their clinical presentations. To address this limitation, we investigated the genetics of individual dimensions of the autism spectrum disorder phenotypes, or autistic-like traits. These autistic-like traits are continuous variations in autistic behaviours that occur in the general population. ...

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

Neisseria meningitidis is commensal of the human pharynx and occasionally invades the host, causing the life-threatening illness invasive meningococcal disease. The meningococcus is a highly diverse and adaptable organism thanks to natural competence, a propensity for recombination, and a highly repetitive genome. ...

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

disease-deconvolution" identified associations between the parasite-brain interactions and epilepsy, movement disorders, Alzheimer's disease, and cancer. ...

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

Lung function is highly heritable and differs between the sexes throughout life. However, little is known about sex-differential genetic effects on lung function. We aimed to conduct the first genome-wide genotype-by-sex interaction study on lung function to identify genetic effects that differ between males and females. ...

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

Previous analyses of family data from the Tasmanian Longitudinal Health Study provide evidence that this phenotype has a stronger genetic cause than asthma... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2014
• December 2014

Researchers at Telethon Institute have found genetic differences in the rare and aggressive NUT-midline carcinoma, presenting new treatment opportunities. ...

• 1. Telethon Kids Institute
• News & Events
• News & Events at Telethon Kids
• 2012
• December

Jenefer Timo Sarra Blackwell Lassmann Jamieson JM T SE BSc with First Class Honours, PhD, DSc, FMedSci, FAA BSc (Hons) MSc PhD BSc (Hons) MSc PhD ...

• 1. Telethon Kids Institute
• Our research
• Past teams
• Genetics and Health

To identify genes with putative epigenetic functions, we developed an in silico pipeline to interrogate the T. gondii proteome of 8313 proteins ...

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