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Research

A phenotype centric benchmark of variant prioritisation tools

We hypothesised that the performance of variant prioriisation tools may vary by disease phenotype.

Research

Hypermasculinised facial morphology in boys and girls with Autism Spectrum Disorder and its association with symptomatology

This is the first study demonstrating facial hypermasculinisation in ASD and its relationship to social-communication difficulties in prepubescent children

Research

Comprehending the Health Informatics Spectrum: Grappling with System Entropy and Advancing Quality Clinical Research

We outline three scenarios from across the health spectrum where issues with health informatics are exemplified.

Research

Accumulation mode particles and LPS exposure induce TLR-4 dependent and independent inflammatory responses in the lung

We aimed to delineate the effects of LPS and AMP on airway inflammation, and potential contribution to airway disease by measuring airway inflammatory responses

Research

The genetic and epigenetic landscapes of the epithelium in asthma

Genetic factors in airway epithelial cells that are functionally associated with asthma pathogenesis

Research

Fetal alcohol spectrum disorders: Using knowledge, attitudes and practice of justice professionals to support their educational needs

There was widespread agreement of the need for more information and training about FASD to optimise outcomes for people with FASD engaging with justice system

Research

Heat-mediated reduction of apoptosis in UVB-damaged keratinocytes in vitro and in human skin ex vivo

UVB-induced p53-mediated cell cycle arrest and apoptosis are reduced in the presence of heat stress, leading to increased survival of DNA damaged cells

Research

Successful Treatment of Congenital Erythroleukemia With Low-Dose Cytosine Arabinoside

We report a term male with congenital acute erythroleukemia who achieved sustained remission with low-dose cytosine arabinoside alone

Research

Differential gene network analysis for the identification of asthma-associated therapeutic targets in allergen-specific T-helper memory responses

Differential network analysis of allergen-induced CD4 T cell responses can unmask covert disease-associated genes and pin point novel therapeutic targets

Research

Missing voices: Profile and extent of acquired communication disorders in Aboriginal and non-Aboriginal adult stroke survivors in Western Australia

The needs of Aboriginal stroke patients with acquired communication disorder should inform appropriate service design for speech pathology and rehabilitation