Andrew Phillips

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)

2014

• 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)

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.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)
• Scally, A.et al. 2012. Insights into hominid evolution from the gorilla genome sequence. Nature 483(7388), pp. 169-175. (10.1038/nature10842)
• Casola, C.et al. 2012. Interlocus gene conversion events introduce deleterious mutations into at least 1% of human genes associated with inherited disease. Genome Research 22(3), pp. 429-435. (10.1101/gr.127738.111)

2011

• Ivanov, D.et al. 2011. Comparative analysis of germline and somatic microlesion mutational spectra in 17 human tumor suppressor genes. Human Mutation 32(6), pp. 620-632. (10.1002/humu.21483)

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. 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)

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), article number: 13. (10.1186/gm13)

2007

• 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)

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)