Search
Research
Differences in stroke risk and cardiovascular mortality for Aboriginal and other Australian patients with atrial fibrillationStroke risk and cardiovascular mortality are markedly higher for Aboriginal than non-Aboriginal patients with atrial fibrillation, particularly for patients under 60
Research
Rheumatic heart disease in pregnancy: Profile of women admitted to a Western Australian tertiary obstetric hospitalThis retrospective study assessed maternal and perinatal outcomes for women with rheumatic heart disease admitted to the largest tertiary obstetric hospital
Research
Higher frequency of vertebrate-infecting viruses in the gut of infants born to mothers with type 1 diabetesWe demonstrate a distinct gut virome profile in infants of mothers with type 1 diabetes, which may influence health outcomes later in life
Research
Misgendering and experiences of stigma within health care settings for transgender individualsMisgendering within the health care system can significantly affect the mental and physical health of transgender individuals
Research
A spatio-temporal analysis to identify the drivers of malaria transmission in BhutanHot spots and clusters of both species were isolated in the central southern part of Bhutan bordering India
Research
The bone marrow microenvironment of pre-B acute lymphoblastic leukemia at single-cell resolutionThe bone marrow microenvironment (BMM) plays a key role in leukemia progression, but its molecular complexity in pre-B cell acute lymphoblastic leukemia (B-ALL), the most common cancer in children, remains poorly understood. To gain further insight, we used single-cell RNA sequencing to characterize the kinetics of the murine BMM during B-ALL progression.
Research
Performance and Practicality of a Rapid Molecular Test for the Diagnosis of Strep A Pharyngitis in a Remote Australian SettingOver 5 days, 120 schoolchildren from two schools in the remote Kimberley region of Australia were screened for Strep A pharyngitis. Molecular point-of-care testing identified Strep A pharyngitis in 13/18 (72.2%) symptomatic children. The portability and feasibility of molecular point-of-care testing was highly practical for remote settings.
Research
A flexible computational pipeline for research analyses of unsolved clinical exome casesExome 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.
Research
Reference exome data for a Northern Brazilian populationExome 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.
Research
Gain of chromosome 21 in hematological malignancies: lessons from studying leukemia in children with Down syndromeStructural and numerical alterations of chromosome 21 are extremely common in hematological malignancies. While the functional impact of chimeric transcripts from fused chromosome 21 genes such as TEL-AML1, AML1-ETO, or FUS-ERG have been extensively studied, the role of gain of chromosome 21 remains largely unknown.