Dr Edward Ball

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, et al., 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) 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)

2013

• 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)

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

• 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)

2007

• 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)

2005

• 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)

2003

• 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)

2000

• 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)

1999

• Krawczak, M. et al., 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)