Sarra Jenefer Jamieson Blackwell SE JM BSc (Hons) MSc PhD BSc with First Class Honours, PhD, DSc, FMedSci, FAA Senior Research Fellow Head, Genetics & Health sarra.jamieson@telethonkids.org.au Jenefer.Blackwell@telethonkids.org.au Senior Research ...

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

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

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

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

Our findings are in line with a number of epidemiological studies which show a positive association between breastfeeding and OM in early childhood ...

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

Gina Hayley Heather Matt Trapp Christian Croll Cooper GT HC HC MC BHSc(Hons1A), RPHNutr, PhD BSc (1st Class Hons), PhD W.Aust. BHSc BCA Marketing, BSc Statistics and Applied Statistics, PhD ARC DECRA Fellow & Head of Food and Nutrition Research ...

• 1. Telethon Kids Institute
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Visceral leishmaniasis (VL) is caused by Leishmania donovani and Leishmania infantum chagasi. Genome-wide linkage studies from Sudan and Brazil identified... ...

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

Leishmania braziliensis causes cutaneous (CL) and mucosal (ML) leishmaniasis. In the mouse, Fli1 was identified as a gene influencing enhanced wound healing... ...

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

MMP1 is regulated by factors other than FLI1, and that the influence of IL-6 on MMP1 was independent of its effect on FLI1 in Leishmania braziliensis ...

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

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

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

Reviewed in this article these studies have identified positive association at 21 genes with association at five of these replicated in independent populations. ...

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

the association between infant LRTI and risk for persistent wheeze/asthma in this cohort is generally stronger for fLRTIs than for other infection categories ...

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