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

To determine the proportion of child maltreatment-related emergency department presentations in WA and describe the types of injuries associated with them. ...

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

UVR or sunlight exposure may be an effective means of suppressing the development of obesity and MetS, through mechanisms that are independent of vitamin D ...

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

This study questions the causal effect of short interpregnancy intervals on adverse birth outcomes and points to the possibility of unmeasured or... ...

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

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

Neuromuscular disorders can lead to nocturnal hypoventilation. Accurate diagnosis of hypoventilation is imperative to guide treatment decisions. This study determined interobserver agreement for a number of definitions of nocturnal hypoventilation in children and adolescents with neuromuscular disorders. ...

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

Data on asymptomatic identification rates of respiratory viruses are limited, particularly in Indigenous populations, who suffer a high burden of OM. ...

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

To investigate temporal trends in admission rates for acute lower respiratory infections (ALRI) in a total population birth cohort of non-Aboriginal and... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2007
• June 2007

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

Omar Merridee Sébastien Laurence Rishi Sury Terrance Timo Raelene W. Joost Elaskalani Wouters Malinge Cheung Kotecha Johns Lassmann Endersby Lesterhuis OE MW SM LC RS T T R WJL BSc, MSc, PhD Bsc Hons (Physics), PhD PhD BPharm (Hons) MBA PhD MB ChB ( ...

• 1. Telethon Kids Institute
• Projects

This study explores the differential impact of weather on time allocation to physical activity and sleep by children and their parents. We use nationally representative data with time use indicators objectively measured on multiple occasions for more than 1,100 child-parent pairs, coupled with daily meteorological data. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2021
• July 2021

Children with birth defects experience higher rates of hospitalisation for ALRIs before age 2 years than children with no birth defects. ...

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