Standout Papers
- Human Gene Mutation Database (HGMD®): 2003 update (2003)
- The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine (2013)
- The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies (2017)
- The Human Gene Mutation Database: 2008 update (2009)
- Automated inference of molecular mechanisms of disease from amino acid substitutions (2009)
- An integrative approach to predicting the functional effects of non-coding and coding sequence variation (2015)
- Inferring the molecular and phenotypic impact of amino acid variants with MutPred2 (2020)
- The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting (2020)
Immediate Impact
15 by Nobel laureates 27 from Science/Nature 81 standout
Citing Papers
Protein codes promote selective subcellular compartmentalization
2025 StandoutScience
A foundation model for clinician-centered drug repurposing
2024 Standout
Works of Matthew Mort being referenced
Development of a human genetics-guided priority score for 19,365 genes and 399 drug indications
2024
The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting
2020 Standout
Author Peers
| Author | Last Decade | Papers | Cites | |||
|---|---|---|---|---|---|---|
| Matthew Mort | 5949 | 3406 | 943 | 77 | 8.8k | |
| Peter D. Stenson | 5588 | 3852 | 1032 | 62 | 8.6k | |
| J.-M. Lalouel | 3326 | 2855 | 483 | 99 | 7.4k | |
| Norma J. Nowak | 5020 | 2556 | 1258 | 140 | 8.2k | |
| Alan Buckler | 6811 | 1884 | 723 | 66 | 10.0k | |
| Paul Hasty | 6517 | 1737 | 1046 | 104 | 8.0k | |
| G.A.P. Bruns | 6017 | 1877 | 628 | 108 | 9.6k | |
| H. Leighton Grimes | 4300 | 1571 | 1111 | 139 | 8.2k | |
| Baoli Yang | 3854 | 1409 | 370 | 84 | 6.0k | |
| Esteban Ballestar | 8722 | 1574 | 1726 | 140 | 11.9k | |
| Thorsten Heinzel | 7538 | 3340 | 967 | 82 | 9.7k |
All Works
Login with ORCID to disown or claim papers
Loading papers...