Peter D. Stenson
Cardiff University(GB)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Cancer Genomics and Diagnostics, Genomics and Phylogenetic Studies, Genetic Associations and Epidemiology
Most-Cited Works
- → Analysis of protein-coding genetic variation in 60,706 humans(2016)10,243 cited
- → Human Gene Mutation Database (HGMD®): 2003 update(2003)1,855 cited
- → The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies(2017)1,407 cited
- → Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models(2012)1,383 cited
- → The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine(2013)1,372 cited
- → M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity(2016)911 cited
- → The Human Gene Mutation Database: 2008 update(2009)882 cited
- → Insights into hominid evolution from the gorilla genome sequence(2012)800 cited
- → The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting(2020)782 cited
- → Identifying Mendelian disease genes with the Variant Effect Scoring Tool(2013)606 cited