Delayed development of antibodies to S. pneumoniae in infancy is associated with the development of atopy and asthma. ...

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

A body mass index (BMI) >22kg/m2 is a risk factor for type 2 diabetes (T2D) in Aboriginal Australians. ...

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

Otitis media (OM) is a common childhood disease characterised by middle ear effusion and inflammation. ...

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

Exome sequencing is widely used in the diagnosis of rare genetic diseases and provides useful variant data for analysis of complex diseases. There is not always adequate population-specific reference data to assist in assigning a diagnostic variant to a specific clinical condition. ...

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

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

Genevieve Sarra Jenefer Syn Jamieson Blackwell GS SE JM BSc (Hons), PhD BSc (Hons) MSc PhD BSc with First Class Honours, PhD, DSc, FMedSci, FAA Research Officer Senior Research Fellow Head, Genetics & Health (08) 6319 1549 Genevieve.syn@ ...

• 1. Telethon Kids Institute
• Our research
• Past teams
• Genetics and Health

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 Rare and Undiagnosed Diseases Diagnostic Service refers to a genomic diagnostic platform operating within the Genetic Services of Western Australia ...

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

Middle ear infections are one of the main reasons that children visit a GP, are prescribed antibiotics and need surgery. Aboriginal children are particularly susceptible and commonly suffer from hearing loss which can affect speech and learning. ...

• 1. Telethon Kids Institute
• Our research
• Research Topics

Jenefer Timo Carol Sarra Helen Vanessa Blackwell Lassmann Bower Jamieson Leonard Fear JM T C SE HM VF BSc with First Class Honours, PhD, DSc, FMedSci, FAA BSc (Hons) MSc PhD MBBS MSc PhD FAFPHM DLSHTM FPHA BSc (Hons) MSc PhD MBChB MPH BSc (Hons), ...

• 1. Telethon Kids Institute
• Our research
• Past teams
• Genetics and Health

Genomic sequencing in congenital heart disease (CHD) patients often discovers novel genetic variants, which are classified as variants of uncertain significance (VUS). Functional analysis of each VUS is required in specialised laboratories, to determine whether the VUS is disease causative or not, leading to lengthy diagnostic delays. ...

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

Our data demonstrate that CD8+XCR1neg DCs possess a unique pattern of endocytic receptors and a restricted TLR profile that is particularly enriched for TLR5 ...

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