With adequate support, children newly diagnosed with Type 1 Diabetes can be safely managed at home following practical skills training ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2017
• November 2017

We generated updated estimates of child mortality in various age groups for 188 countries from 1970 to 2013. ...

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

Jonathan Glenn Katharine Rosemary Tom Carapetis AM Pearson Noonan Wyber Snelling JR G KN R T AM MBBS FRACP FAFPHM PhD FAHMS BA (Education) PhD Candidate MBBS (Hons) MSc MBChB MPH FRACGP PhD BMBS DTMH GDipClinEpid PhD FRACP Executive Director; Head, ...

• 1. Telethon Kids Institute
• Projects

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

Over 400 million people worldwide are living with a rare disease. Next Generation Sequencing identifies potential disease causative genetic variants. However, many are identified as variants of uncertain significance and require functional laboratory validation to determine pathogenicity, and this creates major diagnostic delays. ...

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

This study examines whether polymorphisms in the ERBB2 gene were associated with leprosy in primary and replication cohorts from northeastern Brazil. ...

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

Rebecca Fiona Hannah Glauert Stanley Moore RA FJ HC BPsych (Hons) PhD FAA FASSA MSc MD FFPHM FAFPHM FRACP FRANZCOG HonDSc HonDUniv HonFRACGP HonMD HonFRCPCH HonLLB (honoris causa) OAM BSc (Hons) GradDipClinEpi PhD Honorary Research Associate Patron ...

• 1. Telethon Kids Institute
• Projects

This study provides evidence to support annual inactivated influenza vaccine administration to children following allogeneic haematopoietic stem cell transplant ...

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

Reductions in pneumonia-coded hospital admissions in unvaccinated children predominated in non-Aboriginal children with low incidence of pneumonia ...

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

Aboriginal children are at greater risk of rotavirus disease than non-Aboriginal children and delayed vaccine receipt is substantially higher ...

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

Deborah Jean-Francois Lea-Ann Peter Ruth Strickland Lauzon-Joset Kirkham Richmond Thornton DH JFLJ LK PC RT PhD PhD MBBS MRCP(UK) FRACP PhD Program Head, Immunobiology and Immunotherapeutic Program Senior Research Officer Co-Head, Bacterial ...

• 1. Telethon Kids Institute
• Projects

We have demonstrated the potential use of Bayesian Networks in improving antibiotic selection for children with osteomyelitis ...

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