We identified the existence of more than 290 clinically associated genomic phylogroups across 22 countries, highlighting challenges in designing vaccines of global utility ...

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

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

Amphotericin B provides improved therapy for visceral leishmaniasis (VL) caused by Leishmania donovani ...

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

Novel loci differentially methylated in newborns represent potential biomarkers of risk of asthma by school age ...

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

This is the first study to examine the associations between a range of blood micronutrient levels and DNA damage in healthy children. ...

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

Tissue-resident memory T (TRM) cells have emerged as key players in the immune control of melanoma. These specialized cells are identified by expression of tissue retention markers such as CD69, CD103 and CD49a with downregulation of egress molecules such as Sphingosine-1-Phosphate Receptor-1 (S1PR1) and the lymphoid homing receptor, CD62L. ...

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

We recently identified C. pseudodiphtheriticum and D. pigrum as the major nasopharyngeal species associated with resistance to recurrent ear infections ...

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

The SNP-based heritability for ADHD symptom scores indicates a polygenic architecture, and genes involved in neurite outgrowth are possibly involved ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2016
• October 2016

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

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

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