Clustering of cases of malignant mesothelioma within families has often been observed, but disentangling genetic and exposure effects has not been done. ...

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

The potential of antisense oligonucleotide therapies for inherited childhood lung diseases Discover. Prevent. Cure. Antisense oligonucleotides (AOs) ...

• Wal-yan Respiratory Research Centre
• Projects
• AREST CF (Cystic Fibrosis)
• Publications

We aimed to define the clinical and variant spectrum and to provide novel molecular insights into the DHX30-associated neurodevelopmental disorder. Clinical and genetic data from affected individuals were collected through Facebook-based family support group, GeneMatcher, and our network of collaborators. ...

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

The use of spoken and written language is a fundamental human capacity. Individual differences in reading- and language-related skills are influenced by genetic variation, with twin-based heritability estimates of 30 to 80% depending on the trait. The genetic architecture is complex, heterogeneous, and multifactorial, but investigations of contributions of single-nucleotide polymorphisms (SNPs) were thus far underpowered. ...

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

The polygenic nature of childhood ALL predisposition together with the timing of environmental triggers may hold vital clues for disease etiology. ...

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

Airway-associated adipose tissue increases with body mass index and is a local source of pro-inflammatory adipokines that may contribute to airway pathology in asthma co-existing with obesity. Genetic susceptibility to airway adiposity was considered in the present study through kisspeptin/kisspeptin receptor signalling, known to modulate systemic adiposity and potentially drive airway remodelling.  ...

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

Craniofacial dysmorphism is associated with thousands of genetic and environmental disorders. Delineation of salient facial characteristics can guide clinicians towards a correct clinical diagnosis and understanding the pathogenesis of the disorder. Abnormal facial shape might require craniofacial surgical intervention, with the restoration of normal shape an important surgical outcome. ...

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

The purpose of this review is to examine the role of innate immunity in the lungs in the development of allergy and asthma. ...

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

Here, we identifyied 12 suggestively significant loci associated with intake of any macronutrient in 91,114 European ancestry participants ...

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

The genetic code that specifies the identity of amino acids incorporated into proteins during protein synthesis is almost universally conserved. Mitochondrial genomes feature deviations from the standard genetic code, including the reassignment of two arginine codons to stop codons. ...

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