Publication & Citation Trends
Publications
25 total
APOE gene testing in FH referrals – the story so far OA
Cited by 0
Semantic Scholar
The West Midland Familial Hypercholesterolaemia (FH) screening programme: Evaluating the utility of the 12 SNP polygenic risk score (PRS) across ethnic groupings OA
Cited by 1
Semantic Scholar
Familial hypercholesterolaemia in the genomic era: improving the clinical utility of current genetic testing
Cited by 0
Semantic Scholar
Autosomal recessive hypercholesterolaemia due to homozygous ldlrap1 variants: a bristol case review
Cited by 0
Semantic Scholar
Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations PDF
Cited by 81
OpenAlex
Expanding the clinical spectrum of recessive truncating mutations of <i>KLHL7</i> to a Bohring-Opitz-like phenotype PDF
Cited by 20
OpenAlex
Genetic testing for Familial Hypercholesterolaemia in the genomic era. The utility of an NGS test for monogenic and polygenic hypercholesterolaemia
Cited by 1
OpenAlex
Development of a multigene panel screening test for hypertriglyceridaemia using next generation sequencing
Cited by 0
Semantic Scholar
Research Topics
Epigenetics and DNA Methylation
(7)
Lipoproteins and Cardiovascular Health
(6)
Genetic Associations and Epidemiology
(4)
Birth, Development, and Health
(4)
Folate and B Vitamins Research
(3)
Affiliations
North Bristol NHS Trust
City, University of London
Southmead Hospital
University of Bristol
Institute of Food Science and Technology