Katy Evans
Research Associate
- evansk52@cardiff.ac.uk
- +44 (0)29 2074 5116
- Institute Of Medical Genetics
Biography
Publications
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., Zhu, X., Chen, H., Howells, K., Cooper, D. N. and Vasquez, K. M. 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
- Stenson, P. D., Ball, E. V., Mort, M. E., Phillips, A. D., Shaw, K. and Cooper, D. N. 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)
- Scally, A. et al. 2012. Insights into hominid evolution from the gorilla genome sequence. Nature 483(7388), pp. 169-175. (10.1038/nature10842)
2009
- Stenson, P. D., Mort, M., Ball, E., Howells, K., Phillips, A. D., Thomas, N. and Cooper, D. N. 2009. The Human Gene Mutation Database: 2008 update. Genome Medicine 1(1), article number: 13. (10.1186/gm13)