Publication & Citation Trends
Publications
15 total
The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting PDF
Cited by 792
OpenAlex
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies PDF
Cited by 1,410
OpenAlex
The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine PDF
Cited by 1,373
OpenAlex
Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing PDF
Cited by 280
OpenAlex
The Human Gene Mutation Database (HGMD) and Its Exploitation in the Fields of Personalized Genomics and Molecular Evolution
Cited by 231
OpenAlex
Swelling Pressures of some initially Saturated and Compacted Saturated Bentonites PDF
Cited by 4
OpenAlex
Interlocus gene conversion events introduce deleterious mutations into at least 1% of human genes associated with inherited disease PDF
Cited by 34
OpenAlex
Research Topics
Genomics and Rare Diseases
(13)
Genomic variations and chromosomal abnormalities
(7)
Cancer Genomics and Diagnostics
(5)
Genetic Associations and Epidemiology
(3)
RNA modifications and cancer
(2)
Affiliations
Cardiff University
University of Wales