The SNP-based heritability for ADHD symptom scores indicates a polygenic architecture, and genes involved in neurite outgrowth are possibly involved ...

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

We performed a discovery GWAS in an extended UAE family (N = 178; 66 diabetic; 112 healthy) genotyped on the Illumina Human 660 Quad Beadchip, with... ...

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

To gain further insight into the genetic architecture of psoriasis, we conducted a meta-analysis of 3 genome-wide association studies (GWAS) and 2... ...

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

Sarra Jenefer Jamieson Blackwell SE JM BSc (Hons) MSc PhD BSc with First Class Honours, PhD, DSc, FMedSci, FAA Senior Research Fellow Head, Genetics ...

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

TNF mRNA expression was higher in leprosy patients compared to endemic controls, but did not differ significantly between clinical subgroups ...

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

Head, Translational Genetics Team ...

• 1. Telethon Kids Institute
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• Staff Profiles - F

Genetic screening technologies to identify and validate macromolecular interactions (MMIs) essential for complex pathways remain an important unmet need for systems biology and therapeutics development. Here, we use a library of peptides from diverse prokaryal genomes to screen MMIs promoting the nuclear relocalization of Forkhead Box O3 (FOXO3a), a tumor suppressor more frequently inactivated by post-translational modification than mutation. ...

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

We report for the first time that a common stress condition, such as viral infection, can exacerbate mitochondrial dysfunction in a genetic model of mitochondrial disease ...

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

Here we focus on more recent well-powered genome-wide association studies, including malaria, leprosy, tuberculosis, and visceral leishmaniasis ...

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