Exome sequencing is widely used in the diagnosis of rare genetic diseases and provides useful variant data for analysis of complex diseases. There is not always adequate population-specific reference data to assist in assigning a diagnostic variant to a specific clinical condition. ...

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

This study examines whether polymorphisms in the ERBB2 gene were associated with leprosy in primary and replication cohorts from northeastern Brazil. ...

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

Skin infections are an under-appreciated and dominant reason for presentation to primary healthcare centres in these indigenous communities ...

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

Many adolescents with diverse sexual orientations lead happy and fulfilled lives. However, evidence consistently suggests elevated rates of mental health difficulties in this population relative to heterosexual peers, and internalization of stigma (i.e., self-stigma) is implicated in these elevated rates. This study aimed to understand and describe the lived experience of self-stigma with respect to participants’ sexual orientations. ...

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

Given the ongoing mortality and morbidity from GAS infections, we must address more effectively the treatment and prevention of GAS impetigo and pharyngitis ...

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

Early onset Non-Communicable Diseases (NCDs), including obesity, allergies, and mental ill-health in childhood, present a serious and increasing threat to lifelong health and longevity. The ORIGINS Project (ORIGINS) addresses the urgent need for multidisciplinary efforts to understand the detrimental multisystem impacts of modern environments using well-curated large-scale longitudinal biological sample collections. ...

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

Expression of bronchodilator response using forced oscillation technique measurements: absolute versus relative ...

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

The study highlights the need for support for parents and carers of young people who engage in self-harm ...

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

The purpose of this study is to explore the effectiveness of a hospital-based asynchronous ear, nose, and throat telehealth service (the Ear Portal) in reducing cost and improving access for children with otitis media. ...

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

Melissa Rebecca O'Donnell Glauert M RA BPsych (Hons), MPsych, GradDip Ed, PhD BPsych (Hons) PhD Honorary Research Associate Honorary Research Associate 08 6319 1359 rebecca.glauert@telethonkids.org.au Honorary Research Associate Honorary Research ...

• 1. Telethon Kids Institute
• Projects

Social, racial inequalities, preterm births, Western Australia, 1984 to 2006 ...

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

This study investigated the risks for cerebral palsy in survivors of multiple pregnancies with cofetal loss (< 20 weeks' gestation) or cofetal death... ...

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