This paper reviews American cutaneous leishmaniasis (ACL) immunogenetics in the state of Bahia (BA), northeastern Brazil, highlighting the interacting roles... ...

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

Carrington Fiona Shepherd Stanley CCJ FJ PhD FAA FASSA MSc MD FFPHM FAFPHM FRACP FRANZCOG HonDSc HonDUniv HonFRACGP HonMD HonFRCPCH HonLLB (honoris causa) Honorary Research Associate Patron 08 6319 1176 contact@telethonkids.org.au Honorary Research ...

• 1. Telethon Kids Institute
• Projects

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

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

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

Jenefer Blackwell JM BSc with First Class Honours, PhD, DSc, FMedSci, FAA Head, Genetics & Health Jenefer.Blackwell@telethonkids.org.au Head, Genetics & Health Professor Blackwell's major interest is genetic epidemiology of infectious disease, and ...

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

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

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

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

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

These summary measures can also be used to quantify the component of variation in epidemiology that is related to sociodemographic development. ...

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