Cyhoeddiad
2020
- Stenson, P. D. et al. 2020. The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting. Human Genetics 139 , pp.1197-1207. (10.1007/s00439-020-02199-3)
2017
- Stenson, P. D. et al. 2017. The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. Human Genetics 136 (6), pp.665-677. (10.1007/s00439-017-1779-6)
2015
- Bacolla, A. et al., 2015. Local DNA dynamics shape mutational patterns of mononucleotide repeats in human genomes. Nucleic Acids Research 43 (10), pp.5065-5080. (10.1093/nar/gkv364)
2012
- Scally, A. et al., 2012. Insights into hominid evolution from the gorilla genome sequence. Nature 483 (7388), pp.169-175. (10.1038/nature10842)
- Stenson, P. D. et al. 2012. The human gene mutation database (HGMD) and its exploitation in the fields of personalized genomics and molecular evolution. Current Protocols in Bioinformatics 39 , pp.1.13.1-1.13.20. (10.1002/0471250953.bi0113s39)
2009
- Stenson, P. D. et al. 2009. The Human Gene Mutation Database: 2008 update. Genome Medicine 1 (1) 13. (10.1186/gm13)
Articles
- Stenson, P. D. et al. 2020. The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting. Human Genetics 139 , pp.1197-1207. (10.1007/s00439-020-02199-3)
- Stenson, P. D. et al. 2017. The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. Human Genetics 136 (6), pp.665-677. (10.1007/s00439-017-1779-6)
- Bacolla, A. et al., 2015. Local DNA dynamics shape mutational patterns of mononucleotide repeats in human genomes. Nucleic Acids Research 43 (10), pp.5065-5080. (10.1093/nar/gkv364)
- Scally, A. et al., 2012. Insights into hominid evolution from the gorilla genome sequence. Nature 483 (7388), pp.169-175. (10.1038/nature10842)
- Stenson, P. D. et al. 2012. The human gene mutation database (HGMD) and its exploitation in the fields of personalized genomics and molecular evolution. Current Protocols in Bioinformatics 39 , pp.1.13.1-1.13.20. (10.1002/0471250953.bi0113s39)
- Stenson, P. D. et al. 2009. The Human Gene Mutation Database: 2008 update. Genome Medicine 1 (1) 13. (10.1186/gm13)