Developing an effective therapy to overcome carbapenemase-positive Klebsiella pneumoniae (CPKp) is an important therapeutic challenge that must be addressed urgently. Here, we explored a Ca-EDTA combination with aztreonam or ceftazidime-avibactam in vitro and in vivo against diverse CPKp clinical isolates. ...

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

Jenefer Blackwell JM BSc with First Class Honours, PhD, DSc, FMedSci, FAA Head, Genetics & Health Jenefer.Blackwell@telethonkids.org.au Head, ...

• 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 ...

• 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

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

Our results provide a possible functional link between Toxoplasma gondii infection and congenital/early life and adult neurological clinical signs ...

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

Here we focus on the problem of prioritising variants with respect to the observed disease phenotype ...

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

Jenefer Timo Blackwell Lassmann JM T BSc with First Class Honours, PhD, DSc, FMedSci, FAA BSc (Hons) MSc PhD Head, Genetics & Health Feilman Fellow; ...

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

Otitis media (OM) is a common disease in early childhood characterised by inflammation of the middle ear. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2013
• January 2013