Germline pathogenic variants in the RAS/mitogen-activated protein kinase (MAPK) signaling pathway are the molecular cause of RASopathies, a group of clinically overlapping genetic syndromes. ...

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

André Schultz AS MBChB, PhD, FRACP Program Head, Respiratory Health RFA Program Head, Respiratory Health RFA Prof André Schultz is the Program Head ...

• 1. Telethon Kids Institute
• Projects

Structural changes identified on CT scans in primary ciliary dyskinesia are not identical to those previously described in cystic fibrosis patients ...

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

Helen Jenny Peter Leonard Downs Richmond HM JA PC MBChB MPH BApplSci (physio) MSc PhD MBBS MRCP(UK) FRACP Principal Research Fellow Program Head, ...

• 1. Telethon Kids Institute
• Projects

We report a 4-year-old Australian Aboriginal girl who was born at 32 weeks gestation with features strongly suggestive of Silver-Russell syndrome ...

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

This white paper discusses the global progress in understanding novel diseases with the aim of encouraging more collaboration between international... ...

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

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

Measles is a highly contagious infectious disease that can cause severe, long-term complications in children. ...

• 1. Telethon Kids Institute
• Our research
• Research Topics

To describe trends, age, and sex-specific patterns of population hospital admissions with a diagnosis of craniosynostosis (CS) in Australia. Population data for hospital separations (in-patient) from public and private hospitals (July 1996-June 2018) were obtained from the publicly available Australian Institute of Health and Welfare (AIHW) National Hospital Morbidity Database. ...

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

These findings suggest the utility of specific FOT outcomes is dependent on the respiratory disease being assessed ...

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