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Showing results for "clinical trials"

A precision medicine approach to interpret a GATA4 genetic variant in a paediatric patient with congenital heart disease

Patients with congenital heart disease (CHD) are identified in 1% of live births. Improved surgical intervention means many patients now survive to adulthood, the corollary of which is increased mortality in the over-65-year-old congenital heart disease population. In the clinic, genetic sequencing increasingly identifies novel genetic variants in genes related to CHD.

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Gene editing and cardiac disease modelling for the interpretation of genetic variants of uncertain significance in congenital heart disease

Genomic sequencing in congenital heart disease (CHD) patients often discovers novel genetic variants, which are classified as variants of uncertain significance (VUS). Functional analysis of each VUS is required in specialised laboratories, to determine whether the VUS is disease causative or not, leading to lengthy diagnostic delays.

Anxiety disorders and cigarette smoking: Results from the Australian Survey of Mental Health and Wellbeing

The aim of this study was to describe current and daily smoking rates, and smoking cessation rates in adults with anxiety disorders

Improving the wellbeing of Australian children and youth: the importance of bridging the know-do gap

Improving the wellbeing of Australian children and youth: the importance of bridging the know-do gap

CXCR1 and SLC11A1 polymorphisms affect susceptibility to cutaneous leishmaniasis in Brazil: a case-control and family-based study

To look at the interplay between PMN and macrophages in disease progression in humans we asked whether polymorphisms at genes that regulate their infiltration..

CRISPR single base editing, neuronal disease modelling and functional genomics for genetic variant analysis: pipeline validation using Kleefstra syndrome EHMT1 haploinsufficiency

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.

Association between mental health workforce supply and clusters of high and low rates of youth suicide: An Australian study using suicide mortality data from 2016 to 2020

Abstract: To examine the association between mental health workforce supply and spatial clusters of high versus low incidence of youth suicide.

What influences the implementation of health checks in the prevention and early detection of chronic diseases among Aboriginal and Torres Strait Islander people in Australian health care

This review aims to systematically identify contextual and mechanistic factors that contribute to the success or failure of implementing effective HCs in the prevention and early detection of chronic diseases among Aboriginal and Torres Strait Islander people in Australian primary health care (PHC).