Hafan Chevron right Pobl Chevron right Dr Edward Ball
Dr Edward Ball
Timau a rolau for Edward Ball
Cyhoeddiad
2023
2022
2020
2017
2015
2014
2013
2012
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 )
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 )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 )
2011
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 )
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. et al., 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.
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. et al. 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. , 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 )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. et al., 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 )
2009
2007
2005
2003
2000
1999
1998
Adrannau llyfrau
Erthyglau
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, et al., 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) R19. (10.1186/gb-2014-15-1-r19 )Stenson, P. et al. 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) e1003816. (10.1371/journal.pgen.1003816 )
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 )
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 )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 )
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 )
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. et al., 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.
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. et al. 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. , 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 )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. et al., 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 )
Stenson, P. D. et al. 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. et al. 2009. The Human Gene Mutation Database: 2008 update. Genome Medicine 1 (1) 13. (10.1186/gm13 )Gibbs, R. A. et al., 2007. Evolutionary and biomedical insights from the rhesus macaque genome. Science 316 (5822), pp.222-34. (10.1126/science.1139247 )
Stenson, P. D. et al. 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. et al. 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 )Chuzhanova, N. A. et al., 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 )
Stenson, P. D. et al. 2003. Human Gene Mutation Database (HGMD): 2003 update. Human Mutation 21 (6), pp.577-581. (10.1002/humu.10212 )Krawczak, M. et al., 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. et al., 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. 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 )