Cooper, David - Cardiff University

个人简介

David N. Cooper is Professor of Human Molecular Genetics at Cardiff University. He obtained his BSc in Biological Sciences (Hons. Zoology) from Edinburgh University in 1979 and his PhD in molecular biology from the same institution in 1983. He then held post-doctoral fellowships in Göttingen (Germany) and Lausanne (Switzerland) between 1983 and 1984. Having worked on the molecular genetics of inherited disorders of thrombosis and haemostasis at the University of London, he took up his present position in Cardiff in 1995. His research interests are largely focused upon elucidating the mechanisms of mutagenesis underlying human genetic disease, but also include the study of the genotype–phenotype relationship in various inherited disorders, as well as human evolutionary and population genetics. He has published ~500 papers in the field of human molecular genetics and has authored or edited a number of books including Human Gene Mutation (1993), Human Gene Evolution (1999), Nature Encyclopedia of the Human Genome (2003), Molecular Genetics of Lung Cancer (2005), Handbook of Human Molecular Evolution (2008) and Copy Number Variation and Disease (2009). He curates the Human Gene Mutation Database (http://www.hgmd.org), a comprehensive database of mutations causing human inherited disease, which is marketed internationally through a commercial partner, Qiagen. Professor Cooper is European Editor of Human Genetics and Editor of the Genetics & Disease section of Wiley’s Encyclopedia of Life Sciences. He is also a member of several Editorial Boards including the Journal of Medical Genetics and Human Mutation as well as Human Genomics.

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Knecht, C.et al. 2017. IMHOTEP A composite score integrating popular tools for predicting the functional consequences of non-synonymous sequence variants. Nucleic Acid Research 45(3), pp. e13. (10.1093/nar/gkw886) pdf Kehrer-Sawatzki, H.et al. 2017. The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis. Human Genetics 136(2), pp. 129-148. (10.1007/s00439-016-1753-8) pdf Liang, S.et al. 2017. iRegNet3D: three-dimensional integrated regulatory network for the genomic analysis of coding and non-coding disease mutations. Genome Biology 18(1), article number: 10. (10.1186/s13059-016-1138-2) pdf Liang, S.et al. 2017. iRegNet3D: three-dimensional integrated regulatory network for the genomic analysis of coding and non-coding disease mutations. Genome Biology 18(10) (10.1186/s13059-016-1138-2) pdf Li, M.et al. 2017. ExonImpact: prioritizing pathogenic alternative splicing events. Human Mutation 38(1), pp. 16-24. (10.1002/humu.23111) Vozikis, A.et al. 2017. Test pricing and reimbursement in genomic medicine: Towards a general strategy. Public Health Genomics 19(6), pp. 352-363. (10.1159/000449152) Ku, C., Cooper, D. N. and Patrinos, G. P. 2017. The rise and rise of exome sequencing. Public Health Genomics 19(6), pp. 315-324. (10.1159/000450991) pdf Kehrer-Sawatzki, H. and Cooper, D. N. 2016. Sequencing the Human Genome: Novel insights into its structure and function. eLS (10.1002/9780470015902.a0001899.pub3)