Since the discovery of MECP2 duplication syndrome (MDS) in 1999, efforts to characterise this disorder have been limited by a lack of large datasets, with small case series often favouring the reporting of certain conditions over others. This study is the largest to date, featuring 134 males and 20 females, ascertained from the international MECP2 Duplication Database (MDBase). ...

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

Infants with KMT2A-rearranged B-cell acute lymphoblastic leukemia (ALL) have a dismal prognosis. Survival outcomes have remained static in recent decades despite treatment intensification and novel therapies are urgently required. ...

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

Exome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25-30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patients. A comprehensive web-based patient report is generated in which all deleterious variants can be filtered by gene, variant characteristics, OMIM disease and Phenolyzer scores, and all are annotated with an ACMG classification and links to ClinVar. ...

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

The immunological changes underpinning acquisition of remission (also called sustained unresponsiveness) following food immunotherapy remain poorly defined. Limited access to effective therapies and biosamples from treatment responders has prevented progress. Probiotic peanut oral immunotherapy is highly effective at inducing remission, providing an opportunity to investigate immune changes. ...

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

Epigenetic changes at the GFI1 were linked to smoking exposure in-utero/in-adulthood and robustly associated with cardio-metabolic risk factors ...

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

A better understanding of the innate immune responses by CF airway epithelial cells is needed to identify why viral infections are more severe in CF ...

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

Children who were born with reduced gestational age, birthweight, and birth length have persistently increased rates of infection-related admissions to hospital until age 18 years ...

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

SlideBase, a web tool which offers a new way of selecting genes, promoters, enhancers and microRNAs that are preferentially expressed/used in a specified set of cells/tissues ...

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

The immediate-early response mediates cell fate in response to a variety of extracellular stimuli and is dysregulated in many cancers. ...

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

Immune checkpoint therapy (ICT) causes durable tumour responses in a subgroup of patients, but it is not well known how T cell receptor beta (TCRβ) repertoire dynamics contribute to the therapeutic response.  ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2024
• April 2024