This paper profiles the functional pattern of DNA variants found at a higher rate in patients with autism spectrum disorder (ASD), X-linked intellectual... ...

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

Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder that is usually associated with mutations in the MECP2 gene. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2007
• February 2007

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

In this rhinovirus study, we first hypothesized that ex vivo human cells response to virus can serve as a proxy for otherwise controversial in vivo human... ...

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

Assessment of p.Phe508del-CFTR functional restoration in pediatric primary cystic fibrosis airway epithelial cells Discover. Prevent. Cure. Abstract ...

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

Canonical RNA processing in mammalian mitochondria is defined by tRNAs acting as recognition sites for nucleases to release flanking transcripts. The relevant factors, their structures, and mechanism are well described, but not all mitochondrial transcripts are punctuated by tRNAs, and their mode of processing has remained unsolved. ...

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

Associations between the human gut microbiome and health outcomes continues to be of great interest, although fecal sample collection methods which impact microbiome studies are sometimes neglected. Here, we expand on previous work in sample optimization, to promote high quality microbiome data. To compare fecal sample collection methods, amplicons from the bacterial 16S rRNA gene (V4) and fungal (ITS2) region, as well as short chain fatty acid (SCFA) concentrations were determined in fecal material over three timepoints. ...

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

Relapse and acquired drug resistance in T-cell acute lymphoblastic leukemia (T-ALL) remains a significant clinical problem. ...

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

In T-cell acute lymphoblastic leukemia (T-ALL) cytogenetic alterations juxtapose the LIM-domain-only-2 gene (LMO2) with T-cell receptor loci. ...

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

Chromosome 6q26-27 is linked to susceptibility to visceral leishmaniasis (VL) in Brazil and Sudan. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2012
• August 2012