Childhood asthma is a condition characterized by airflow obstruction that varies in time spontaneously, in response to various environmental stimuli... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2011
• January 2011

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

Large-scale molecular profiling studies in recent years have shown that central nervous system (CNS) tumors display a much greater heterogeneity in terms of molecularly distinct entities, cellular origins and genetic drivers than anticipated from histological assessment. ...

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

Maternal severe mental illness and exposure to obstetric complications contribute separately to the risk of intellectual disability ...

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

Asthma is more common in childhood than in adulthood and is more correctly thought of as a syndrome than as a discrete condition. ...

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

Birk-Landau-Perez syndrome is a genetic disorder caused by biallelic pathogenic variants in SLC30A9 presenting with a complex movement disorder, developmental regression, oculomotor abnormalities, and renal impairment. It has previously been reported in 2 families. We describe the clinical phenotype of 8 further individuals from 4 unrelated families with SLC30A9-related disease. ...

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

These findings suggest that genetic variants at the VDR locus may play a role in acute wheeze/asthma severity in children ...

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

Traits associated with CVD, CRD and T2D in Aboriginal Australians provide novel insight into function of Arylsulphatase A Pseudodeficiency variants ...

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

Lung-function impairment underlies chronic obstructive pulmonary disease (COPD) and predicts mortality. In the largest multi-ancestry genome-wide association meta-analysis of lung function to date, comprising 580,869 participants, we identified 1,020 independent association signals implicating 559 genes supported by ≥2 criteria from a systematic variant-to-gene mapping framework. These genes were enriched in 29 pathways. Individual variants showed heterogeneity across ancestries, age and smoking groups, and collectively as a genetic risk score showed strong association with COPD across ancestry groups. ...

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

Hereditary cancer predisposition syndromes (HCPS) account for at least 10% of paediatric cancers.1 Li‐Fraumeni syndrome (LFS) is a dominant HCPS caused by mutations in the TP53 gene and is associated with an 80–90% lifetime risk of cancer, commencing in infancy.2 Children of affected individuals are at 50% risk of inheriting the family mutation. ...

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