Ankylosing spondylitis is a common form of inflammatory arthritis predominantly affecting the spine and pelvis that occurs in approximately 5 out of 1,000 adult ...

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

Genome-wide association studies (GWASs) have been successful at identifying single-nucleotide polymorphisms (SNPs) highly associated with common traits... ...

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

A conditional analysis provided evidence for multiple associations within the HLA-DRB1-HLA-DQA1 region,and a model in which risk differed between three... ...

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

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

This document updates the 2005 European Respiratory Society (ERS) and American Thoracic Society (ATS) technical standard for the measurement of lung volumes. The 2005 document integrated the recommendations of an ATS/ERS task force with those from an earlier National Heart, Lung, and Blood Institute workshop that led to the publication of background papers between 1995 and 1999 and a consensus workshop report with more in-depth descriptions and discussion. ...

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

Electronic cigarettes (ECs) have been rapidly gaining ground on conventional cigarettes due to their efficiency in ceasing or reducing tobacco consumption,... ...

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

Christopher Hannah Blyth Moore CC HC MBBS (Hons) DCH FRACP FRCPA PhD OAM BSc (Hons) GradDipClinEpi PhD Director, Wesfarmers Centre of Vaccines and Infectious Diseases; Co-Head, Infectious Diseases Epidemiology, Wesfarmers Centre of Vaccines and ...

• 1. Telethon Kids Institute
• Projects

Post kala-azar dermal leishmaniasis (PKDL) is a cutaneous form of disease that develops at variable times after individuals have received treatment. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2010
• January 2010

Our results imply a role for IgG-mediated inflammation in determining delayed-type hypersensitivity associated with asymptomatic leishmaniasis ...

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

Findings from this study indicate that even in the absence of stroke, being at high polygenic risk of ischemic stroke is associated with lower cognitive ability ...

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

Investigate the world's largest and most powerful supermarkets' publically available CSR commitments to determine their potential impact on public health ...

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