Publication
2023
- Fan, C. et al. 2023. Profiling human pathogenic repeat expansion regions by synergistic and multi-level impacts on molecular connections. Human Genetics 142, pp. 245-274. (10.1007/s00439-022-02500-6)
2022
- Qi, M. et al. 2022. Distinct sequence features underlie microdeletions and gross deletions in the human genome. Human Mutation 43(3), pp. 328-346. (10.1002/humu.24314)
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
- The 1000 Genomes Project Consortium, ., Auton, A., Abecasis, G. R., Cooper, D. N., Ball, E. V. and Stenson, P. D. 2015. A global reference for human genetic variation. Nature 526, pp. 68-74. (10.1038/nature15393)
2014
- Mort, M. et al. 2014. MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing. Genome Biology 15(1), article number: R19. (10.1186/gb-2014-15-1-r19)
- Stenson, P., Mort, M., Ball, E., Shaw, K., Phillips, A. and Cooper, D. 2014. The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Human Genetics 133(1), pp. 1-9. (10.1007/s00439-013-1358-4)
2013
- Bacolla, A. et al. 2013. Guanine holes are prominent targets for mutation in cancer and inherited disease. PLOS Genetics 9(9), article number: e1003816. (10.1371/journal.pgen.1003816)
2012
- Xue, Y. et al. 2012. Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing. American Journal of Human Genetics 91(6), pp. 1022-1032. (10.1016/j.ajhg.2012.10.015)
- 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)
- McVean, G. A. et al. 2012. An integrated map of genetic variation from 1,092 human genomes. Nature 491(7422), pp. 56-65. (10.1038/nature11632)
2011
- Yan, G. et al. 2011. Genome sequencing and comparison of two nonhuman primate animal models, the cynomolgus and Chinese rhesus macaques [Letter]. Nature Biotechnology 29(11), pp. 1019-1023. (10.1038/nbt.1992)
- Zhang, G., Pei, Z., Ball, E. V., Mort, M. E., Cooper, D. N. and Kehrer-Sawatzki, H. 2011. Cross-comparison of the genome sequences from human, chimpanzee, Neanderthal and a Denisovan hominin identifies novel potentially compensated mutations. Human Genomics 5(5), pp. 453-484.
- Wolf, A. et al. 2011. Single base-pair substitutions at the translation initiation sites of human genes as a cause of inherited disease. Human Mutation 32(10), pp. 1137-1143. (10.1002/humu.21547)
2010
- Durbin, R. M. et al. 2010. A map of human genome variation from population-scale sequencing. Nature 467(7319), pp. 1061-1073. (10.1038/nature09534)
- Cooper, D. N., Mort, M. E., Stenson, P. D., Ball, E. V. and Chuzhanova, N. A. 2010. Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotides. Human Genomics 4(6), pp. 406-410.
- Cooper, D. N. et al. 2010. Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics. Human Mutation 31(6), pp. 631-655. (10.1002/humu.21260)
- Zhang, G., Pei, Z., Krawczak, M., Ball, E. V., Mort, M. E., Kehrer-Sawatzki, H. and Cooper, D. N. 2010. Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations. Human Mutation 31(12), pp. 1286-1293. (10.1002/humu.21389)
- Cooper, D. N., Ball, E. V. and Mort, M. E. 2010. Chromosomal distribution of disease genes in the human genome. Genetic Testing and Molecular Biomarkers 14(4), pp. 441-446. (10.1089/gtmb.2010.0081)
2009
- Stenson, P. D., Ball, E. V., Howells, K., Phillips, A. D., Mort, M. E. and Cooper, D. N. 2009. The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics [Editorial]. Human Genomics 4(2), pp. 69-72.
- 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)
2007
- Gibbs, R. A., Rogers, J., Katz, M. G., Ball, E. V., Cooper, D. N., Stenson, P. D. and Zweig, A. S. 2007. Evolutionary and biomedical insights from the rhesus macaque genome. Science 316(5822), pp. 222-34. (10.1126/science.1139247)
- Stenson, P. D., Ball, E., Howells, K., Phillips, A., Mort, M. E. and Cooper, D. N. 2007. Human Gene Mutation Database: towards a comprehensive central mutation database [Letter]. Journal of Medical Genetics 45(2), pp. 124-126. (10.1136/jmg.2007.055210)
2005
- Ball, E. V., Stenson, P. D., Abeysinghe, S. S., Krawczak, M., Cooper, D. N. and Chuzanhova, N. A. 2005. Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity. Human Mutation 26(3), pp. 205-213. (10.1002/humu.20212)
2003
- Stenson, P. D. et al. 2003. Human Gene Mutation Database (HGMD): 2003 update. Human Mutation 21(6), pp. 577-581. (10.1002/humu.10212)
- Chuzhanova, N. A., Anassis, E. J., Ball, E. V., Krawczak, M. and Cooper, D. N. 2003. Meta-analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexity. Human Mutation 21(1), pp. 28-44. (10.1002/humu.10146)
2000
- Krawczak, M., Chuzhanova, N. A., Stenson, P. D., Johansen, B. N., Ball, E. V. and Cooper, D. N. 2000. Changes in primary DNA sequence complexity influence the phenotypic consequences of mutations in human gene regulatory regions. Human Genetics -Berlin- 107(4), pp. 362-365. (10.1007/s004390000393)
- Krawczak, M., Ball, E. V., Fenton, I., Stenson, P. D., Abeysinghe, S., Thomas, N. and Cooper, D. N. 2000. Human gene mutation database-a biomedical information and research resource. Human Mutation 15(1), pp. 45-51. (10.1002/(sici)1098-1004(200001)15:1%3C45::aid-humu10%3E3.0.co;2-t)
1999
- Krawczak, M., Ball, E. V., Stenson, P. D. and Cooper, D. N. 1999. HGMD: the human gene mutation database. In: Letovsky., S. I. ed. Bioinformatics; databases and systems. Boston: Kluwer Academic Publishers, pp. 99-104.
1998
- Krawczak, M., Ball, E. V. and Cooper, D. N. 1998. Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genes. American Journal of Human Genetics 63(2), pp. 474-488. (10.1086/301965)
Articles
- Fan, C. et al. 2023. Profiling human pathogenic repeat expansion regions by synergistic and multi-level impacts on molecular connections. Human Genetics 142, pp. 245-274. (10.1007/s00439-022-02500-6)
- Qi, M. et al. 2022. Distinct sequence features underlie microdeletions and gross deletions in the human genome. Human Mutation 43(3), pp. 328-346. (10.1002/humu.24314)
- 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)
- The 1000 Genomes Project Consortium, ., Auton, A., Abecasis, G. R., Cooper, D. N., Ball, E. V. and Stenson, P. D. 2015. A global reference for human genetic variation. Nature 526, pp. 68-74. (10.1038/nature15393)
- Mort, M. et al. 2014. MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing. Genome Biology 15(1), article number: R19. (10.1186/gb-2014-15-1-r19)
- Stenson, P., Mort, M., Ball, E., Shaw, K., Phillips, A. and Cooper, D. 2014. The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Human Genetics 133(1), pp. 1-9. (10.1007/s00439-013-1358-4)
- Bacolla, A. et al. 2013. Guanine holes are prominent targets for mutation in cancer and inherited disease. PLOS Genetics 9(9), article number: e1003816. (10.1371/journal.pgen.1003816)
- Xue, Y. et al. 2012. Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing. American Journal of Human Genetics 91(6), pp. 1022-1032. (10.1016/j.ajhg.2012.10.015)
- 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)
- McVean, G. A. et al. 2012. An integrated map of genetic variation from 1,092 human genomes. Nature 491(7422), pp. 56-65. (10.1038/nature11632)
- Yan, G. et al. 2011. Genome sequencing and comparison of two nonhuman primate animal models, the cynomolgus and Chinese rhesus macaques [Letter]. Nature Biotechnology 29(11), pp. 1019-1023. (10.1038/nbt.1992)
- Zhang, G., Pei, Z., Ball, E. V., Mort, M. E., Cooper, D. N. and Kehrer-Sawatzki, H. 2011. Cross-comparison of the genome sequences from human, chimpanzee, Neanderthal and a Denisovan hominin identifies novel potentially compensated mutations. Human Genomics 5(5), pp. 453-484.
- Wolf, A. et al. 2011. Single base-pair substitutions at the translation initiation sites of human genes as a cause of inherited disease. Human Mutation 32(10), pp. 1137-1143. (10.1002/humu.21547)
- Durbin, R. M. et al. 2010. A map of human genome variation from population-scale sequencing. Nature 467(7319), pp. 1061-1073. (10.1038/nature09534)
- Cooper, D. N., Mort, M. E., Stenson, P. D., Ball, E. V. and Chuzhanova, N. A. 2010. Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotides. Human Genomics 4(6), pp. 406-410.
- Cooper, D. N. et al. 2010. Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics. Human Mutation 31(6), pp. 631-655. (10.1002/humu.21260)
- Zhang, G., Pei, Z., Krawczak, M., Ball, E. V., Mort, M. E., Kehrer-Sawatzki, H. and Cooper, D. N. 2010. Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations. Human Mutation 31(12), pp. 1286-1293. (10.1002/humu.21389)
- Cooper, D. N., Ball, E. V. and Mort, M. E. 2010. Chromosomal distribution of disease genes in the human genome. Genetic Testing and Molecular Biomarkers 14(4), pp. 441-446. (10.1089/gtmb.2010.0081)
- Stenson, P. D., Ball, E. V., Howells, K., Phillips, A. D., Mort, M. E. and Cooper, D. N. 2009. The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics [Editorial]. Human Genomics 4(2), pp. 69-72.
- 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)
- Gibbs, R. A., Rogers, J., Katz, M. G., Ball, E. V., Cooper, D. N., Stenson, P. D. and Zweig, A. S. 2007. Evolutionary and biomedical insights from the rhesus macaque genome. Science 316(5822), pp. 222-34. (10.1126/science.1139247)
- Stenson, P. D., Ball, E., Howells, K., Phillips, A., Mort, M. E. and Cooper, D. N. 2007. Human Gene Mutation Database: towards a comprehensive central mutation database [Letter]. Journal of Medical Genetics 45(2), pp. 124-126. (10.1136/jmg.2007.055210)
- Ball, E. V., Stenson, P. D., Abeysinghe, S. S., Krawczak, M., Cooper, D. N. and Chuzanhova, N. A. 2005. Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity. Human Mutation 26(3), pp. 205-213. (10.1002/humu.20212)
- Stenson, P. D. et al. 2003. Human Gene Mutation Database (HGMD): 2003 update. Human Mutation 21(6), pp. 577-581. (10.1002/humu.10212)
- Chuzhanova, N. A., Anassis, E. J., Ball, E. V., Krawczak, M. and Cooper, D. N. 2003. Meta-analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexity. Human Mutation 21(1), pp. 28-44. (10.1002/humu.10146)
- Krawczak, M., Chuzhanova, N. A., Stenson, P. D., Johansen, B. N., Ball, E. V. and Cooper, D. N. 2000. Changes in primary DNA sequence complexity influence the phenotypic consequences of mutations in human gene regulatory regions. Human Genetics -Berlin- 107(4), pp. 362-365. (10.1007/s004390000393)
- Krawczak, M., Ball, E. V., Fenton, I., Stenson, P. D., Abeysinghe, S., Thomas, N. and Cooper, D. N. 2000. Human gene mutation database-a biomedical information and research resource. Human Mutation 15(1), pp. 45-51. (10.1002/(sici)1098-1004(200001)15:1%3C45::aid-humu10%3E3.0.co;2-t)
- Krawczak, M., Ball, E. V. and Cooper, D. N. 1998. Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genes. American Journal of Human Genetics 63(2), pp. 474-488. (10.1086/301965)
Book sections
- Krawczak, M., Ball, E. V., Stenson, P. D. and Cooper, D. N. 1999. HGMD: the human gene mutation database. In: Letovsky., S. I. ed. Bioinformatics; databases and systems. Boston: Kluwer Academic Publishers, pp. 99-104.