A5066973981- Lipoproteins and Cardiovascular Health
- Lipid metabolism and disorders
- Diabetes, Cardiovascular Risks, and Lipoproteins
- Cancer, Lipids, and Metabolism
- Health Systems, Economic Evaluations, Quality of Life
- Genetic factors in colorectal cancer
- Diabetes and associated disorders
- Metabolism and Genetic Disorders
- Pharmaceutical Economics and Policy
- Genomics and Rare Diseases
- Health and Medical Research Impacts
- Cholesterol and Lipid Metabolism
- Liver Disease Diagnosis and Treatment
- Genetic Associations and Epidemiology
- Nuclear Structure and Function
- Diabetes Treatment and Management
- Amino Acid Enzymes and Metabolism
- Caveolin-1 and cellular processes
- Folate and B Vitamins Research
- Cell Adhesion Molecules Research
- Pancreatitis Pathology and Treatment
- Lysosomal Storage Disorders Research
- Lipid metabolism and biosynthesis
- Systemic Lupus Erythematosus Research
- Pancreatic function and diabetes
Royal Perth Hospital
2015-2024
The University of Western Australia
2015-2024
Fiona Stanley Hospital
2015-2024
Pathwest Laboratory Medicine
2018-2024
Indiana University School of Medicine
2024
Indiana University – Purdue University Indianapolis
2024
Weatherford College
2011
Accurate and consistent variant classification is imperative for incorporation of rapidly developing sequencing technologies into genomic medicine improved patient care. An essential requirement achieving standardized reliable interpretation data sharing, facilitated by a centralized open-source database. Familial hypercholesterolemia (FH) an exemplar the utility such resource: it has high incidence, favorable prognosis with early intervention treatment, cascade screening can be offered to...
The gold standard for diagnosing familial hypercholesterolemia (FH) is identification of a causative pathogenic mutation. However, genetic testing expensive and not widely available. To compare the validity Dutch Lipid Clinic Network (DLCN), Simon Broome (SB), Make Early Diagnosis to Prevent Deaths (MEDPED), American Heart Association (AHA) criteria in predicting an FH-causing An adult cohort unrelated patients referred lipid clinic testing. Odds ratio (OR), area under curve (AUC),...
Abstract Background Familial partial lipodystrophy (FPLD) is an inherited disorder of white adipose tissue that causes premature cardiometabolic disease. There no clear diagnostic criteria for FPLD, and this may explain the under-detection condition. Aim This pilot study aimed to describe clinical features women with FPLD explore value measurements could be useful in diagnosis. Methods In 8 4 controls, skinfold measurements, DXA whole-body MRI were undertaken. Results Whole genome sequencing...
Background Familial hypercholesterolaemia (FH) is an inherited disorder characterized by increased serum low-density lipoprotein (LDL)-cholesterol concentrations and premature atherosclerotic cardiovascular disease. The majority of people with FH are currently undiagnosed. We sought to determine the ability a community laboratory screen for individuals potential FH. Methods Serum LDL-cholesterol issued private in Western Australia were reviewed over one-year period (1 May 2010 31 April...