Stephen Eric Humphries - Genetic Mutations

Author Information

Stephen Eric Humphries is a prominent researcher affiliated with the Centre for Cardiovascular Genetics at the Institute of Cardiovascular Science, University College London. His work primarily focuses on genetic factors contributing to cardiovascular diseases, with a significant emphasis on familial hypercholesterolemia and related metabolic disorders. His affiliation with a leading institution highlights his involvement in cutting-edge research within the field of cardiovascular genetics.

Research Contributions

Stephen Eric Humphries has made substantial contributions to understanding the genetic underpinnings of cardiovascular diseases. His recent work includes exploring the role of Lp(a) as a risk factor for cardiovascular disease, examining LDL-C concentrations in diverse populations, and evaluating genetic testing and screening strategies for familial hypercholesterolemia. His research also delves into the intersection of genetic susceptibility to schizophrenia and cardiometabolic diseases, reflecting a broad interest in the genetic basis of complex health conditions.

Aliases

Throughout his academic career, Stephen Eric Humphries has been cited under various aliases, including S E Humphries, Steven Humphries, Steve E. Humphries, and several variations of these names. These aliases reflect the common variations in name usage in academic publications and ensure comprehensive recognition of his work across different citation databases.

Publication and Citation Metrics

Metric	Value
Citation Count	55,125
H-index	105
Paper Count	949

Publications:

How should public health recommendations address Lp(a) measurement, a causative risk factor for cardiovascular disease (CVD)?

DOI: 10.1016/j.atherosclerosis.2022.02.013

Year: 2022

LDL-C Concentrations and the 12-SNP LDL-C Score for Polygenic Hypercholesterolaemia in Self-Reported South Asian, Black and Caribbean Participants of the UK Biobank

DOI: 10.3389/fgene.2022.845498

Year: 2022

Cost-Effectiveness of Screening Algorithms for Familial Hypercholesterolaemia in Primary Care

DOI: 10.3390/jpm12030330

Year: 2022

Case-finding and genetic testing for familial hypercholesterolaemia in primary care

DOI: 10.1136/heartjnl-2021-319742

Year: 2021

Genome-wide association study of circulating interleukin 6 levels identifies novel loci

DOI: 10.1093/hmg/ddab023

Year: 2021

The West Midland Familial Hypercholesterolaemia (FH) screening programme: Evaluating the utility of the 12 SNP polygenic risk score (PRS) across ethnic groupings

DOI: 10.1016/j.athplu.2021.07.012

Year: 2021

Comparison of the mutation spectrum and association with pre and post treatment lipid measures of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries

DOI: 10.1530/EY.18.12.13

Year: 2021

The overlap of genetic susceptibility to schizophrenia and cardiometabolic disease can be used to identify metabolically different groups of individuals

DOI: 10.1038/s41598-020-79964-x

Year: 2021

Erratum: Genetic testing for familial hypercholesterolemia—past, present, and future

DOI: 10.1016/j.jlr.2021.100146

Year: 2021

Genetic testing for familial hypercholesterolemia—past, present, and future

DOI: 10.1016/j.jlr.2021.100139

Year: 2021

How does BLAST work?

What Is the Significance of Synonymous Mutations in Evolution?

How Can Radiation Exposure Be Measured?

How Are Translocations Diagnosed?

Can Insertion Mutations Lead to Diseases?

What Treatments are Available for CFTR-Related Conditions?

How Do Missense Mutations Differ from Other Types of Mutations?

What is a Synonymous Mutation?

Do Genetic Mutations Always Have Positive Effects?

How are Autosomal Recessive Disorders Diagnosed?

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