Ella Alix Carton Woolard EC AW Bsc (Hons) BPsych (Hons), PhD PhD Candidate Senior Research Fellow 08 6319 1823 Ella.carton@telethonkids.org.au Alix.woolard@telethonkids.org.au PhD Candidate Postdoctoral Research Fellow in Child Mental Health she/her ...

• 1. Telethon Kids Institute
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An estimated 3.5%-5.9% of the global population live with rare diseases, and approximately 80% of these diseases have a genetic cause. Rare genetic diseases are difficult to diagnose, with some affected individuals experiencing diagnostic delays of 5-30 years. Next-generation sequencing has improved clinical diagnostic rates to 33%-48%. In a majority of cases, novel variants potentially causing the disease are discovered.  ...

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

Early childhood is recognised as a critical window of opportunity for physical literacy development, however early childhood educators typically lack the training required to effectively provide appropriate physical literacy opportunities for children. ...

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

These findings provide a compelling argument for efforts to reduce exposure of the brainstem in the treatment of medulloblastoma ...

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

Mothers of a child with intellectual disability (ID) have more psychiatric disorders after the birth of their child than other mothers. ...

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

The purpose of this study is to describe the social participation of young adults with Down syndrome and examine its relationship with the physical and... ...

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• Our research
• Reports and Findings
• 2014
• September 2014

Helen Peter Leonard Jacoby HM PJ MBChB MPH BA (Hons) MSc Principal Research Fellow Biostatistician +61 419 956 946 helen.leonard@telethonkids.org.au Peter.Jacoby@telethonkids.org.au Principal Research Fellow Biostatistician Authors: Downs J, ...

• 1. Telethon Kids Institute
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• 2010
• September 2010

The science that interprets the way nutrients and other substances in food affect maintenance, growth, reproduction, health and disease. ...

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Children with neurodevelopmental, emotional, or behavioural challenges participate in lower levels of physical activity (PA) and subsequently have poorer physical and mental health outcomes. We sought to determine the feasibility and preliminary efficacy of a multi-component physical literacy program for children with neurodevelopmental, emotional, or behavioural challenges. ...

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

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

Active vaccine safety surveillance leading to rapid detection of a safety signal would likely have resulted in earlier suspension of Fluvax from the vaccination programme ...

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• Our research
• Reports and Findings
• 2020
• March 2020

Pineoblastoma is a rare pineal region brain tumor. Treatment strategies have reflected those for other malignant embryonal brain tumors. ...

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