Professor David Cooper
(he/him)
BSc, PhD
Professor
- CooperDN@cardiff.ac.uk
- +44 29207 44062
- Institute of Medical Genetics Building, University Hospital of Wales, Heath Park, Cardiff, CF14 4XN
- Media commentator
Overview
I have been Professor of Human Molecular Genetics at Cardiff University since 1995.
My 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.
I have published nearly 600 papers in the field of human molecular genetics and have authored or edited a number of books including Human Gene Mutation (1993), The Molecular Genetics of Haemostasis and its Inherited Disorders (1994), Human Gene Evolution (1999), Nature Encyclopedia of the Human Genome (2003), Molecular Genetics of Lung Cancer (2005), Handbook of Human Molecular Evolution (2008), Copy Number Variation and Disease (2009) and Neurofibromatosis Type1: Molecular & Cellular Biology (2013).
I curate 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. I am European Editor of Human Genetics (https://www.springer.com/journal/439) and Editor of the Genetics & Disease section of Wiley's Encyclopedia of Life Sciences (http://www.els.net). I am also a member of several journal Editorial Boards including the Journal of Medical Genetics, Journal of Human Genetics, Genes, Human Genome Variation, Human Mutation and Human Genomics.
Publication
2024
- Wang, M. et al. 2024. SEC16A variants predispose to chronic pancreatitis by impairing ER‐to‐Golgi Transport and inducing ER stress. Advanced Science (10.1002/advs.202402550)
- Kars, M. E., Wu, Y., Stenson, P. D., Cooper, D. N., Burisch, J., Peter, I. and Itan, Y. 2024. The landscape of rare genetic variation associated with inflammatory bowel disease and Parkinson’s disease comorbidity. Genome Medicine 16(1), article number: 66. (10.1186/s13073-024-01335-2)
- Hu, J. et al. 2024. NextDenovo: an efficient error correction and accurate assembly tool for noisy long reads. Genome Biology 25(1), article number: 107. (10.1186/s13059-024-03252-4)
- Qi, M., Zhang, H., Xiu, X., He, D., Cooper, D. N., Yang, Y. and Zhao, H. 2024. Genetic evidence for T-wave area from 12-lead electrocardiograms to monitor cardiovascular diseases in patients taking diabetes medications. Human Genetics (10.1007/s00439-024-02661-6)
- Zhuang, X. et al. 2024. Divergent evolutionary rates of primate brain regions as revealed by genomics and transcriptomics. Genome Biology and Evolution 16(2), article number: evae023. (10.1093/gbe/evae023)
- Lopes-Marques, M., Mort, M., Carneiro, J., Azevedo, A., Amaro, A. P., Cooper, D. N. and Azevedo, L. 2024. Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease. Human Genomics 18(1), article number: 20. (10.1186/s40246-024-00587-8)
- Hu, B., Zhuang, X., Zhou, L., Zhang, G., Cooper, D. N. and Wu, D. 2024. Deciphering the role of rapidly evolving conserved elements in primate brain development and exploring their potential involvement in Alzheimer's Disease. Molecular Biology and Evolution 41(1), article number: msae001. (10.1093/molbev/msae001)
- Duffy, ?. et al. 2024. Development of a human genetics-guided priority score for 19,365 genes and 399 drug indications. Nature Genetics 56(1), pp. 51-59. (10.1038/s41588-023-01609-2)
2023
- Shiferaw, H. K., Hong, C. S., Cooper, D. N., Johnston, J. J. and Biesecker, L. G. 2023. Genome-wide identification of dominant polyadenylation hexamers for use in variant classification. Human Molecular Genetics 32(23), pp. 3211-3224., article number: ddad136. (10.1093/hmg/ddad136)
- Stein, D. et al. 2023. Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set. Genome Medicine 15(1), article number: 103. (10.1186/s13073-023-01261-9)
- Zhang, P. et al. 2023. Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites. Proceedings of the National Academy of Sciences of the United States of America 120(46), article number: e2314225120. (10.1073/pnas.2314225120)
- Lin, S., Zhang, H., Qi, M., Cooper, D. N., Yang, Y., Yang, Y. and Zhao, H. 2023. Inferring the genetic relationship between brain imaging-derived phenotypes and risk of complex diseases by Mendelian randomization and genome-wide colocalization. NeuroImage 279, article number: 120325. (10.1016/j.neuroimage.2023.120325)
- Masson, E. et al. 2023. Classification of PRSS1 variants responsible for chronic pancreatitis: An expert perspective from the Franco-Chinese GREPAN Study Group. Pancreatology 23(5), pp. 491-506. (10.1016/j.pan.2023.04.004)
- Masson, E. et al. 2023. Identification of protease-sensitive but not misfolding PNLIP variants in familial and hereditary pancreatitis. Pancreatology 23(5), pp. 507-511. (10.1016/j.pan.2023.05.011)
- Zhuang, X. et al. 2023. Integrative omics reveals rapidly evolving regulatory sequences driving primate brain evolution. Molecular Biology and Evolution 40(8), article number: msad173. (10.1093/molbev/msad173)
- Zhang, G. et al. 2023. Frameshift coding sequence variants in the LPL gene: identification of two novel events and exploration of the genotype–phenotype relationship for variants reported to date. Lipids in Health and Disease 22(1), article number: 128. (10.1186/s12944-023-01898-w)
- Hu, Y. et al. 2023. The East Asian-specific LPL p.Ala288Thr (c.862G > A) missense variant exerts a mild effect on protein function. Lipids in Health and Disease 22, article number: 119. (10.1186/s12944-023-01875-3)
- Shao, Y. et al. 2023. Phylogenomic analyses provide insights into primate evolution. Science 380(6648), pp. 913-924. (10.1126/science.abn6919)
- Zhang, B. et al. 2023. Comparative genomics reveals the hybrid origin of a macaque group. Science Advances 9(22), article number: eadd3580. (10.1126/sciadv.add3580)
- Bi, X. et al. 2023. Lineage-specific accelerated sequences underlying primate evolution. Science Advances 9(22) (10.1126/sciadv.adc9507)
- Wu, Y. et al. 2023. Identifying high-impact variants and genes in exomes of Ashkenazi Jewish inflammatory bowel disease patients. Nature Communications 14(1), article number: 2256. (10.1038/s41467-023-37849-3)
- Wu, Y. et al. 2023. Identifying shared genetic factors underlying epilepsy and congenital heart disease in Europeans. Human Genetics 142, pp. 275-288. (10.1007/s00439-022-02502-4)
- 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)
- Masson, E. et al. 2023. The PRSS3P2 and TRY7 deletion copy number variant modifies risk for chronic pancreatitis. Pancreatology 23(1), pp. 48-56. (10.1016/j.pan.2022.11.013)
- Li, Y. et al. 2023. Large-scale chromosomal changes lead to genome-level expression alterations, environmental adaptation, and speciation in the Gayal (Bos frontalis). Molecular Biology and Evolution 40(1), article number: msad006. (10.1093/molbev/msad006)
- Wang, Y. et al. 2023. High clinical and genetic similarity between chronic pancreatitis associated with light-to-moderate alcohol consumption and classical alcoholic chronic pancreatitis. Gastro Hep Advances 2(2), pp. 186-195. (10.1016/j.gastha.2022.09.009)
2022
- Zhang, P. et al. 2022. Genome-wide detection of human variants that disrupt intronic branchpoints. Proceedings of the National Academy of Sciences 119(44), article number: e2211194119. (10.1073/pnas.2211194119)
- Li, M. et al. 2022. Functional genomics analysis reveals the evolutionary adaptation and demographic history of pygmy lorises. Proceedings of the National Academy of Sciences 119(40), article number: e2123030119. (10.1073/pnas.2123030119)
- Zou, W., Cooper, D. N., Masson, E., Pu, N., Liao, Z., Férec, C. and Chen, J. 2022. Trypsinogen (PRSS1 and PRSS2) gene dosage correlates with pancreatitis risk across genetic and transgenic studies: a systematic review and re-analysis. Human Genetics 141, pp. 1327-1338. (10.1007/s00439-022-02436-x)
- Xiu, X. et al. 2022. Genetic evidence for a causal relationship between type 2 diabetes and peripheral artery disease in both Europeans and East Asians. BMC Medicine 20(1), article number: 300. (10.1186/s12916-022-02476-0)
- Masson, E. et al. 2022. Expanding ACMG variant classification guidelines into a general framework. Human Genomics 16(1), article number: 31. (10.1186/s40246-022-00407-x)
- Rastogi, R., Stenson, P. D., Cooper, D. N. and Bejerano, G. 2022. X-CAP improves pathogenicity prediction of stopgain variants. Genome Medicine 14(1), article number: 81. (10.1186/s13073-022-01078-y)
- Génin, E., Cooper, D. N., Masson, E., Férec, C. and Chen, J. 2022. NGS mismapping confounds the clinical interpretation of the PRSS1 p.Ala16Val (c.47C>T) variant in chronic pancreatitis. Gut 71, pp. 841-842. (10.1136/gutjnl-2021-324943)
- 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)
- Quinodoz, M. et al. 2022. Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity. American Journal of Human Genetics 109(3), pp. 457-470. (10.1016/j.ajhg.2022.01.006)
- Hamada, S. et al. 2022. Functionally deficient TRPV6 variants contribute to hereditary and familial chronic pancreatitis. Human Mutation 43(2), pp. 228-239. (10.1002/humu.24315)
- Kehrer-Sawatzki, H. and Cooper, D. N. 2022. Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants. Human Genetics 141(2), pp. 177–191. (10.1007/s00439-021-02410-z)
- Chen, J., Cooper, D. N. and Férec, C. 2022. No convincing evidence to support a bimodal age of onset in idiopathic chronic pancreatitis. Clinical Gastroenterology and Hepatology 20(1), pp. 244-245. (10.1016/j.cgh.2021.01.049)
- Mao, X. et al. 2022. The CEL-HYB1 hybrid allele promotes digestive enzyme misfolding and pancreatitis in mice. Cellular and Molecular Gastroenterology and Hepatology 14(1), pp. 55-74. (10.1016/j.jcmgh.2022.03.013)
2021
- Kehrer-Sawatzki, H. and Cooper, D. N. 2021. Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletions. Human Genetics 140, pp. 1635-1649. (10.1007/s00439-021-02363-3)
- Pu, N., Masson, E., Cooper, D. N., Génin, E., Férec, C. and Chen, J. 2021. Chronic pancreatitis: the true pathogenic culprit within the SPINK1 N34S-containing haplotype is no longer at large. Genes 12(11), article number: 1683. (10.3390/genes12111683)
- Kehrer-Sawatzki, H., Wahlländer, U., Cooper, D. N. and Mautner, V. 2021. Atypical NF1 microdeletions: challenges and opportunities for Genotype/Phenotype correlations in patients with large NF1 deletions. Genes 12(10), article number: 1639. (10.3390/genes12101639)
- Serrano, C. et al. 2021. Compensatory epistasis explored by molecular dynamics simulations. Human Genetics 140(9), pp. 1329-1342. (10.1007/s00439-021-02307-x)
- Kars, M. E. et al. 2021. The genetic structure of the Turkish population reveals high levels of variation and admixture. Proceedings of the National Academy of Sciences 118(36), article number: e2026076118. (10.1073/pnas.2026076118)
- Lopes-Marques, M. et al. 2021. Common polymorphic OTC variants can act as genetic modifiers of enzymatic activity. Human Mutation 42(8), pp. 978-989. (10.1002/humu.24221)
- Lin, J. et al. 2021. Splicing outcomes of 5′ splice site GT>GC variants that generate wild-type transcripts differ significantly between full-length and minigene splicing assays. Frontiers in Genetics 12, article number: 701652. (10.3389/fgene.2021.701652)
- Steinhaus, R., Proft, S., Schuelke, M., Cooper, D. N., Schwarz, J. and Seelow, D. 2021. MutationTaster2021. Nucleic Acids Research 49(W1), pp. W446–W451. (10.1093/nar/gkab266)
- Masson, E. et al. 2021. The reversion variant (p.Arg90Leu) at the evolutionarily adaptive p.Arg90 site in CELA3B predisposes to chronic pancreatitis. Human Mutation 42(4), pp. 385-391. (10.1002/humu.24178)
- Chen, J., Herzig, A. F., Génin, E., Masson, E., Cooper, D. N. and Férec, C. 2021. Scale and scope of gene-alcohol interactions in chronic pancreatitis: a systematic review. Genes 12(4), article number: 471. (10.3390/genes12040471)
- Yang, Q. et al. 2021. Digenic inheritance and gene-environment interaction in a patient with hypertriglyceridemia and acute pancreatitis. Frontiers in Genetics 12, article number: 640859. (10.3389/fgene.2021.640859)
- He, D., Fan, C., Qi, M., Yang, Y., Cooper, D. N. and Zhao, H. 2021. Prioritization of schizophrenia risk genes from GWAS results by integrating multi-omics data. Translational Psychiatry 11(1), article number: 175. (10.1038/s41398-021-01294-x)
- Neville, M. D. et al. 2021. A platform for curated products from novel Open Reading Frames (nORFs) prompts reinterpretation of disease variants. Genome Research 31(2), pp. 327-336. (10.1101/gr.263202.120)
- Higgins, J. et al. 2021. Verifying nomenclature of DNA variants in submitted manuscripts: guidance for journals. Human Mutation 42(1), pp. 3-7. (10.1002/humu.24144)
- Bacolla, A. et al. 2021. Heritable pattern of oxidized DNA base repair coincides with pre-targeting of repair complexes to open chromatin. Nucleic Acids Research 49(1), pp. 221-243. (10.1093/nar/gkaa1120)
2020
- Wang, Y. et al. 2020. EXT1 and EXT2 variants in 22 Chinese families with multiple osteochondromas: seven new variants and potentiation of preimplantation genetic testing and prenatal diagnosis. Frontiers in Genetics 11, article number: 607838. (10.3389/fgene.2020.607838)
- Pejaver, V. et al. 2020. Inferring the molecular and phenotypic impact of amino acid variants with MutPred2. Nature Communications 11(1), article number: 5918. (10.1038/s41467-020-19669-x)
- Herzig, A. F., Génin, E., Cooper, D. N., Masson, E., Férec, C. and Chen, J. 2020. Role of the common PRSS1-PRSS2 haplotype in alcoholic and non-alcoholic chronic pancreatitis: meta- and re-analyses. Genes 11(11), article number: 1349. (10.3390/genes11111349)
- 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)
- Guéguen, P. et al. 2020. Pathogenic and likely pathogenic variants in at least five genes account for approximately 3% of mild isolated nonsyndromic thrombocytopenia. Transfusion 60(10), pp. 2419-2431. (10.1111/trf.15992)
- Cardoso-Moreira, M., Sarropoulos, I., Velten, B., Mort, M., Cooper, D. N., Huber, W. and Kaessmann, H. 2020. Developmental gene expression differences between humans and mammalian models. Cell Reports 33(4), article number: 108308. (10.1016/j.celrep.2020.108308)
- Pu, N. et al. 2020. Gene-environment interaction between APOA5 c.553G>T and pregnancy in hypertriglyceridemia-induced acute pancreatitis. Journal of Clinical Lipidology 14(4) (10.1016/j.jacl.2020.05.003)
- Rausell, A. et al. 2020. Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes. Proceedings of the National Academy of Sciences 117(24), pp. 13626-13636. (10.1073/pnas.1917993117)
- Birgmeier, J. et al. 2020. AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature. Science Translational Medicine 12(544), article number: eaau9113. (10.1126/scitranslmed.aau9113)
- Lin, J. et al. 2020. Most unambiguous loss-of-function CPA1 mutations are unlikely to predispose to chronic pancreatitis. Gut 69(4), pp. 785-786. (10.1136/gutjnl-2019-318564)
- Birgmeier, J. et al. 2020. AVADA: toward automated pathogenic variant evidence retrieval directly from the full-text literature. Genetics in Medicine 22(2), pp. 362-370. (10.1038/s41436-019-0643-6)
- Shi, X. et al. 2020. Identification and functional characterization of a novel heterozygous missense variant in the LPL associated with recurrent hypertriglyceridemia-induced acute pancreatitis in pregnancy. Molecular Genetics and Genomic Medicine 8(3), article number: e1048. (10.1002/mgg3.1048)
- Pei, Z. et al. 2020. Neuroprotectants attenuate hypobaric hypoxia-induced brain injuries in cynomolgus monkeys. Zoological Research 41(1), pp. 3-19. (10.24272/j.issn.2095-8137.2020.012)
- Chen, J., Lin, J., Masson, E., Liao, Z., Férec, C., Cooper, D. N. and Hayden, M. 2020. The experimentally obtained functional impact assessments of 5' splice site GT>GC variants differ markedly from those predicted. Current Genomics 21(1), pp. 56-66. (10.2174/1389202921666200210141701)
2019
- Lin, H. et al. 2019. RegSNPs-intron: a computational framework for predicting pathogenic impact of intronic single nucleotide variants. Genome Biology 20(1), article number: 254. (10.1186/s13059-019-1847-4)
- Gurdasani, D. et al. 2019. Uganda genome resource enables insights into population history and genomic discovery in Africa. Cell 179(4), pp. 984-1002.e36. (10.1016/j.cell.2019.10.004)
- Lin, J. et al. 2019. First estimate of the scale of canonical 5' splice site GT>GC variants capable of generating wild-type transcripts. Human Mutation 40(10), pp. 1856-1873. (10.1002/humu.23821)
- Wang, Y. et al. 2019. Compound heterozygosity for novel truncating variants in the LMOD3 gene as the cause of polyhydramnios in two successive fetuses. Frontiers in Genetics 10, pp. -. (10.3389/fgene.2019.00835)
- Fragoza, R. et al. 2019. Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. Nature Communications 10(1), article number: 4141. (10.1038/s41467-019-11959-3)
- Simeonidis, S., Koutsilieri, S., Vozikis, A., Cooper, D. N., Mitropoulou, C. and Patrinos, G. P. 2019. Application of economic evaluation to assess feasibility for reimbursement of genomic testing as part of personalized medicine interventions. Frontiers in Pharmacology 10, article number: 830. (10.3389/fphar.2019.00830)
- Cardoso-Moreira, M. et al. 2019. Gene expression across mammalian organ development. Nature 571, pp. 505 - 509. (10.1038/s41586-019-1338-5)
- Zhang, P., Boisson, B., Stenson, P. D., Cooper, D. N., Casanova, J., Abel, L. and Itan, Y. 2019. SeqTailor: a user-friendly webserver for the extraction of DNA or protein sequences from next-generation sequencing data. Nucleic Acids Research 47(W1), pp. W623-W631. (10.1093/nar/gkz326)
- Schwarz, J. M., Hombach, D., Köhler, S., Cooper, D. N., Schuelke, M. and Seelow, D. 2019. RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants. Nucleic Acids Research 47(W1), pp. W106-W113. (10.1093/nar/gkz327)
- Pagel, K. A. et al. 2019. Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome. PLoS Computational Biology 15(6), article number: e1007112. (10.1371/journal.pcbi.1007112)
- Johnston, J. J. et al. 2019. NAA10 polyadenylation signal variants cause syndromic microphthalmia. Journal of Medical Genetics 56(7), pp. 444-453. (10.1136/jmedgenet-2018-105836)
- Jagadeesh, K. A., Paggi, J. M., Ye, J. S., Stenson, P. D., Cooper, D. N., Bernstein, J. A. and Bejerano, G. 2019. S-CAP extends pathogenicity prediction to genetic variants that affect RNA splicing. Nature Genetics 51(4), pp. 755-763. (10.1038/s41588-019-0348-4)
- Rogozin, I. et al. 2019. Nucleotide weight matrices reveal ubiquitous mutational footprints of AID/APOBEC deaminases in human cancer genomes. Cancers 11(2), article number: 211. (10.3390/cancers11020211)
- Tang, X. et al. 2019. Toward a clinical diagnostic pipeline for SPINK1 intronic variants. Human Genomics 13(1), article number: 8. (10.1186/s40246-019-0193-7)
- Maffucci, P. et al. 2019. Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis. Proceedings of the National Academy of Sciences 116, pp. 950-959. (10.1073/pnas.1808403116)
- Summerer, A., Schäfer, E., Mautner, V., Messiaen, L., Cooper, D. N. and Kehrer-Sawatzki, H. 2019. Ultra-deep amplicon sequencing indicates absence of low-grade mosaicism with normal cells in patients with type-1 NF1 deletions. Human Genetics 138(1), pp. 73-81. (10.1007/s00439-018-1961-5)
2018
- Robinson-Rechavi, M. et al. 2018. The sequencing and interpretation of the genome obtained from a Serbian individual. PLoS ONE 13(12), article number: e0208901. (10.1371/journal.pone.0208901)
- Zou, W. et al. 2018. SPINK1, PRSS1, CTRC, and CFTR genotypes influence disease onset and clinical outcomes in chronic pancreatitis. Clinical and Translational Gastroenterology 9(11), article number: 204. (10.1038/s41424-018-0069-5)
- Birgmeier, J. et al. 2018. AVADA improves automated genetic variant database construction directly from full-text literature. [Online]. BioRxiv. (10.1101/461269) Available at: http://dx.doi.org/10.1101/461269
- Rogozin, I. B. et al. 2018. Mutational signatures and mutable motifs in cancer genomes. Briefings in Bioinformatics 19(6), pp. 1085-1101. (10.1093/bib/bbx049)
- Caciotti, A. et al. 2018. Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease. BMC Medical Genetics 19(1), article number: 183. (10.1186/s12881-018-0694-6)
- Kehrer-Sawatzki, H. et al. 2018. Phenotypic and genotypic overlap between mosaic NF2 and schwannomatosis in patients with multiple non-intradermal schwannomas. Human Genetics 137(6-7), pp. 543-552. (10.1007/s00439-018-1909-9)
- Summerer, A. et al. 2018. Extreme clustering of type-1 NF1 deletion breakpoints co-locating with G-quadruplex forming sequences. Human Genetics 137(6-7), pp. 511-520. (10.1007/s00439-018-1904-1)
- Requena, D. et al. 2018. CDG: an online server proposing biologically closest disease-causing genes and pathologies and its application to primary immunodeficiency. Frontiers in Immunology 9, article number: 1340. (10.3389/fimmu.2018.01340)
- Cooper, D. N. et al. 2018. The Genomic Medicine Alliance: A global effort to facilitate the introduction of genomics into healthcare in developing nations. In: Lopez-Correa, C. and Patrinos, G. eds. Genomic Medicine in Emerging Economies: Genomics for Every Nation. Translational and Applied Genomics Elsevier, pp. 173-188., (10.1016/B978-0-12-811531-2.00008-4)
- Neuhäusler, L., Summerer, A., Cooper, D. N., Mautner, V. and Kehrer-Sawatzki, H. 2018. Pronounced maternal parent-of-origin bias for type-1 NF1 microdeletions. Human Genetics 137(5), pp. 365-373. (10.1007/s00439-018-1888-x)
- Rogozin, I. B. et al. 2018. DNA polymerase η mutational signatures are found in a variety of different types of cancer. Cell Cycle 17(3), pp. 348-355. (10.1080/15384101.2017.1404208)
- Masson, E., Chen, J., Cooper, D. and Férec, C. 2018. PRSS1 copy number variants and promoter polymorphisms in pancreatitis: common pathogenetic mechanism, different genetic effects. Gut 67(3), pp. 592-593. (10.1136/gutjnl-2017-314443)
- Rogers, M. F., Shihab, H. A., Mort, M., Cooper, D., Gaunt, T. R. and Campbell, C. 2018. FATHMM-XF: accurate prediction of pathogenic point mutations via extended features. Bioinformatics 34(3), pp. 511-513. (10.1093/bioinformatics/btx536)
- Zhao, H., Yang, Y., Lu, Y., Mort, M., Cooper, D. N., Zuo, Z. and Zhou, Y. 2018. Quantitative mapping of genetic similarity in human heritable diseases by shared mutations. Human Mutation 39(2), pp. 292-301. (10.1002/humu.23358)
- Wang, Y. et al. 2018. Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly. Human Genomics 12(1), article number: 3. (10.1186/s40246-018-0135-9)
- Bacolla, A., Cooper, D. N., Vasquez, K. M. and Tainer, J. A. 2018. Non-B DNA structure and mutations causing human genetic disease. In: eLS. John Wiley & Sons, (10.1002/9780470015902.a0022657.pub2)
2017
- Mitropoulos, K. et al. 2017. Genomic variants in the FTO gene are associated with sporadic amyotrophic lateral sclerosis in Greek patients. Human Genomics 11(1), article number: 30. (10.1186/s40246-017-0126-2)
- Venet, T. et al. 2017. Severe infantile isolated exocrine pancreatic insufficiency caused by the complete functional loss of the SPINK1 gene. Human Mutation 38(12), pp. 1660-1665. (10.1002/humu.23343)
- Hillmer, M., Summerer, A., Mautner, V., Högel, J., Cooper, D. N. and Kehrer-Sawatzki, H. 2017. Consideration of the haplotype diversity at nonallelic homologous recombination hotspots improves the precision of rearrangement breakpoint identification. Human Mutation 38(12), pp. 1711-1722. (10.1002/humu.23319)
- Wu, H., Boulling, A., Cooper, D. N., Li, Z., Liao, Z., Chen, J. and Férec, C. 2017. In vitro and in silico evidence against a significant effect of the SPINK1 c.194G>A variant on pre-mRNA splicing [Letter]. Gut 66(12), pp. 2195-2196. (10.1136/gutjnl-2017-313948)
- Mitropoulos, K. et al. 2017. Genomic medicine without borders: which strategies should developing countries employ to invest in precision medicine? A new "fast-second winner" strategy. OMICS: A Journal of Integrative Biology 21(11), pp. 647-657. (10.1089/omi.2017.0141)
- Wu, H., Boulling, A., Cooper, D., Li, Z., Liao, Z., Férec, C. and Chen, J. 2017. Analysis of the impact of known SPINK1 missense variants on re-mRNA splicing and/or mRNA stability in a full-length gene assay. Genes 8(10), article number: 263. (10.3390/genes8100263)
- Ferlaino, M., Rogers, M. F., Shihab, H. A., Mort, M., Cooper, D., Gaunt, T. R. and Campbell, C. 2017. An integrative approach to predicting the functional effects of small indels in non-coding regions of the human genome. BMC bioinformatics 18(1), article number: 442. (10.1186/s12859-017-1862-y)
- Lu, T. et al. 2017. Biological and functional relevance of CASP predictions.. Proteins (10.1002/prot.25396)
- Livingstone, M. et al. 2017. Investigating DNA-, RNA-, and protein-based features as a means to discriminate pathogenic synonymous variants. Human Mutation 38(10), pp. 1336-1347. (10.1002/humu.23283)
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- Kehrer-Sawatzki, H., Farschtschi, S., Mautner, V. and Cooper, D. N. 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)
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2016
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2015
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- Chen, J., Férec, C. and Cooper, D. N. 2015. Complex multiple-nucleotide substitution mutations causing human inherited disease reveal novel insights into the action of translesion synthesis DNA polymerases. Human Mutation 36(11), pp. 1034-1038. (10.1002/humu.22831)
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- Siegert, S., Wolf, A., Cooper, D. N., Krawczak, M. and Nothnagel, M. 2015. Mutations causing complex disease may under certain circumstances be protective in an eidemiological sense. PLoS ONE 10(7), article number: e0132150. (10.1371/journal.pone.0132150)
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- Cooper, D. N. and Morton, C. C. 2015. A changing of the guard at Human Genetics. Human Genetics 134(1), pp. 1. (10.1007/s00439-014-1510-9)
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2014
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- Mussotter, T., Bengesser, K., Högel, J., Cooper, D. N. and Kehrer-Sawatzki, H. 2014. Population-specific differences in gene conversion patterns between human SUZ12 and SUZ12P are indicative of the dynamic nature of interparalog gene conversion. Human Genetics 133(4), pp. 383-401. (10.1007/s00439-013-1410-4)
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- Bacolla, A., Cooper, D. N. and Vasquez, K. M. 2014. Mechanisms of base substitution mutagenesis in cancer genomes. Genes 5(1), pp. 108-146. (10.3390/genes5010108)
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- Mai, Y., Mitropoulou, C., Papadopoulou, X. E., Vozikis, A., Cooper, D. N., van Schaik, R. H. and Patrinos, G. P. 2014. Critical appraisal of the views of healthcare professionals with respect to pharmacogenomics and personalized medicine in Greece. Personalized Medicine 11(1), pp. 15-26. (10.2217/pme.13.92)
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- 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)
- Bengesser, K., Vogt, J., Mussotter, T., Mautner, V., Messiaen, L., Cooper, D. N. and Kehrer-Sawatzki, H. 2014. Analysis of crossover breakpoints yields new insights into the nature of the gene conversion events associated with large NF1 deletions mediated by nonallelic homologous recombination. Human Mutation 35(2), pp. 215-226. (10.1002/humu.22473)
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2013
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- Regis, S., Corsolini, F., Grossi, S., Tappino, B., Cooper, D. N. and Filocamo, M. 2013. Restoration of the normal splicing pattern of the PLP1 gene by means of an antisense oligonucleotide directed against an exonic mutation. PLoS One 8(9), article number: e73633. (10.1371/journal.pone.0073633)
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- Hamby, S. E., Reviriego, P., Cooper, D. N., Upadhyaya, M. and Chuzhanova, N. 2013. Screening in silico predicted remotely acting NF1 gene regulatory elements for mutations in patients with neurofibromatosis type 1. Human Genomics 7, article number: 18. (10.1186/1479-7364-7-18)
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- Bacolla, A., Cooper, D. N. and Vasquez, K. M. 2013. DNA structure matters. Genome Medicine 5, article number: S1. (10.1186/gm455)
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- Ku, C. S., Cooper, D. N., E. Ziogas, D., Halkia, E., Tzaphlidou, M. and Roukos, D. H. 2013. Research and clinical applications of cancer genome sequencing. Current Opinion in Obstetrics and Gynecology 25(1), pp. 3-10. (10.1097/GCO.0b013e32835af17c)
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2012
- Thomas, L., Richards, M., Mort, M. E., Dunlop, E. A., Cooper, D. N. and Upadhyaya, M. 2012. Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene. Human Mutation 33(12), pp. 1687-1696. (10.1002/humu.22162)
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- Mussotter, T., Kluwe, L., Hoegel, J., Nguyen, R., Cooper, D. N., Mautner, V. and Kehrer-Sawatzki, H. 2012. Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletions. BMC Medical Genetics 13, article number: 98. (10.1186/1471-2350-13-98)
- Krawczak, M., Cooper, D. N., Fändrich, F., Engel, W. and Schmidtke, J. 2012. How to distinguish genetically between an alleged father and his monozygotic twin: a thought experiment [Letter]. Forensic Science International: Genetics 6(5), pp. e129-e130. (10.1016/j.fsigen.2011.11.003)
- 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)
- Alkindy, A., Chuzhanova, N., Kini, U., Cooper, D. N. and Upadhyaya, M. 2012. Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?. Human Genomics 6, article number: 12. (10.1186/1479-7364-6-12)
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- Ku, C., Cooper, D. N., Wu, M., Roukos, D. H., Pawitan, Y., Soong, R. and Iacopetta, B. 2012. Gene discovery in familial cancer syndromes by exome sequencing: prospects for the elucidation of familial colorectal cancer type X. Modern Pathology 25(8), pp. 1055-1068. (10.1038/modpathol.2012.62)
- Thomas, L., Mautner, V., Cooper, D. N. and Upadhyaya, M. 2012. Molecular heterogeneity in malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1. Human Genomics 6, article number: 18. (10.1186/1479-7364-6-18)
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- Ku, C., Cooper, D. N. and Roukos, D. H. 2012. The 'sequence everything' approach and personalized clinical decision challenges [Editorial]. Expert Review of Molecular Diagnostics 12(4), pp. 319-322. (10.1586/erm.12.20)
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- Ku, C. and Cooper, D. N. 2012. Exome sequencing: a transient technology for molecular diagnostics? [Editorial]. Expert Review of Molecular Diagnostics 12(3), pp. 211-214. (10.1586/erm.12.3)
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- Pavlidis, C., Karamitri, A., Barakou, A., Cooper, D. N., Poulas, K., Topouzis, S. and Patrinos, G. P. 2012. Ascertainment and critical assessment of the views of the general public and healthcare professionals on nutrigenomics in Greece. Personalized Medicine 9(2), pp. 201-210. (10.2217/pme.12.3)
- MacArthur, D. G. et al. 2012. A systematic survey of loss-of-function variants in human protein-coding genes. Science 335(6070), pp. 823-828. (10.1126/science.1215040)
- Ku, C., Cooper, D. N., Polychronakos, C., Naidoo, N., Wu, M. and Soong, R. 2012. Exome sequencing: Dual role as a discovery and diagnostic tool. Annals of Neurology 71(1), pp. 5-14. (10.1002/ana.22647)
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- Chen, J., Férec, C. and Cooper, D. N. 2012. Transient hypermutability, chromothripsis and replication-based mechanisms in the generation of concurrent clustered mutations. Mutation Research/Reviews in Mutation Research 750(1), pp. 52-59. (10.1016/j.mrrev.2011.10.002)
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- Cooper, D. N. and Chen, J. eds. 2012. Mutations in human genetic disease. Shanghai: InTech.
2011
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- Sagia, A., Cooper, D. N., Poulas, K., Stathakopoulos, V. and Patrinos, G. P. 2011. Critical appraisal of the private genetic and pharmacogenomic testing environment in Greece. Personalized Medicine 8(4), pp. 413-420. (10.2217/pme.11.24)
- 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.
- Ivanov, D., Hamby, S. E., Stenson, P. D., Phillips, A. D., Kehrer-Sawatzki, H., Cooper, D. N. and Chuzhanova, N. 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)
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- Filocamo, M., Cooper, D. N. and Di Rocco, M. 2011. Mucopolysaccharide storage disorders. In: Encclopedia of Life Sciences (ELS). Wiley-Blackwell, (10.1002/9780470015902.a0006095)
- Cooper, D. N. and Kehrer-Sawatzki, H. 2011. Exploring the potential relevance of human-specific genes to complex disease. Human Genomics 5(2), pp. 99-107.
- Hamby, S. E., Thomas, N. S. T., Cooper, D. N. and Chuzhanova, N. 2011. A meta-analysis of single base-pair substitutions in translational termination codons ('nonstop' mutations) that cause human inherited disease.. Human Genomics 5(4), pp. 241-264.
- Laycock-Van spyk, S., Thomas, N. S. T., Cooper, D. N. and Upadhyaya, M. 2011. Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis. Human Genomics 5(6), pp. 623-690.
- Necsulea, A., Popa, A., Cooper, D. N., Stenson, P. D., Mouchiroud, D., Gautier, C. and Duret, L. 2011. Meiotic recombination favors the spreading of deleterious mutations in human populations. Human Mutation 32(2), pp. 198-206. (10.1002/humu.21407)
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- Vogt, J., Kohlhase, J., Morlot, S., Kluwe, L., Mautner, V., Cooper, D. N. and Kehrer-Sawatzki, H. 2011. Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutation. Human Mutation 32(6), pp. E2134-E2147. (10.1002/humu.21476)
- Bertola, F. et al. 2011. IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles. Human Mutation 32(6), pp. E2189-E2210. (10.1002/humu.21479)
- 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)
- Cooper, D. N., Bacolla, A., Férec, C., Vasquez, K. M., Kehrer-Sawatzki, H. and Chen, J. 2011. On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease. Human Mutation 32(10), pp. 1075-1099. (10.1002/humu.21557)
- Zhao, Y., Clark, W. T., Mort, M. E., Cooper, D. N., Radivojac, P. and Mooney, S. D. 2011. Prediction of functional regulatory SNPs in monogenic and complex disease. Human Mutation 32(10), pp. 1183-1190. (10.1002/humu.21559)
- Fechtel, K., Osterbur, M. L., Kehrer-Sawatzki, H., Stenson, P. D. and Cooper, D. N. 2011. Delineating the Hemostaseome as an aid to individualize the analysis of the hereditary basis of thrombotic and bleeding disorders. Human Genetics 130(1), pp. 149-166. (10.1007/s00439-011-0984-y)
- Gravel, S. et al. 2011. Demographic history and rare allele sharing among human populations. Proceedings of the National Academy of Sciences of the United States of America 108(29), pp. 11983-11988. (10.1073/pnas.1019276108)
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- Sterne-Weiler, T., Howard, J., Mort, M., Cooper, D. N. and Sanford, J. R. 2011. Loss of exon identity is a common mechanism of human inherited disease. Genome Research 21(10), pp. 1563-1571. (10.1101/gr.118638.110)
- Boulling, A. et al. 2011. Assessing the pathological relevance of SPINK1 promoter variants. European Journal of Human Genetics 19(10), pp. 1066-1073. (10.1038/ejhg.2011.79)
- Grossi, S. et al. 2011. Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations. Orphanet Journal of Rare Diseases 6, article number: 40. (10.1186/1750-1172-6-40)
2010
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- Antonarakis, S. E. and Cooper, D. N. 2010. Human gene mutation: mechanisms and consequences. In: Speicher, M. R., Antonarakis, S. E. and Motulsky, A. G. eds. Vogel and Motulsky's human genetics: problems and approaches. 4th ed.. London: Springer, pp. 319-364.
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- Xin, F., Myers, S., Li, Y. F., Cooper, D. N., Mooney, S. D. and Radivojac, P. 2010. Structure-based kernels for the prediction of catalytic residues and their involvement in human inherited disease. Bioinformatics 26(16), pp. 1975-1982. (10.1093/bioinformatics/btq319)
- Chen, J. M., Férec, C. and Cooper, D. N. 2010. Revealing the human mutome. Clinical Genetics 78(4), pp. 310-320. (10.1111/j.1399-0004.2010.01474.x)
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- Chen, J., Férec, C. and Cooper, D. N. 2010. Gene conversion in human genetic disease. Genes 1(3), pp. 550-563. (10.3390/genes1030550)
- Clarke, A. J. and Cooper, D. N. 2010. GWAS: heritability missing in action?. European Journal of Human Genetics 18(8), pp. 859-861. (10.1038/ejhg.2010.35)
- Goebel, J. W. et al. 2010. Legal and ethical consequences of international biobanking from a national perspective: the German BMB-EUCoop project. European Journal of Human Genetics 18(5), pp. 522-525. (10.1038/ejhg.2009.214)
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.
- Tappino, B. et al. 2009. Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase α- and β-subunit (GNPTAB) gene mutations causing mucolipidosis types IIα/β and IIIα/β in 46 patients. Human Mutation 30(11), pp. E956-E973. (10.1002/humu.21099)
- Chen, J., Férec, C. and Cooper, D. N. 2009. Closely spaced multiple mutations as potential signatures of transient hypermutability in human genes. Human Mutation 30(10), pp. 1435-1448. (10.1002/humu.21088)
- Chen, J., Cooper, D. N., Chuzhanova, N., Férec, C. and Patrinos, G. P. 2009. Gene conversion in evolution and disease. In: Encyclopedia of Life Sciences. Chichester: John Wiley, (10.1002/9780470015902.a0005100.pub2)
- Chuzhanova, N., Chen, J., Bacolla, A., Patrinos, G. P., Férec, C., Wells, R. D. and Cooper, D. N. 2009. Gene conversion causing human inherited disease: evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repair. Human Mutation 30(8), pp. 1189-1198. (10.1002/humu.21020)
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- Hudson, T. J. and Cooper, D. N. 2009. STREGA: a 'How-To' guide for reporting genetic associations [Editorial]. Human Genetics 125(2), pp. 117-118. (10.1007/s00439-009-0624-y)
- Kehrer-Sawatzki, H. and Cooper, D. N. eds. 2009. Copy number variation and disease. London: Karger.
- Zheng, Y. et al. eds. 2009. Encyclopedia of life sciences. John Wiley.
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- Chauvin, A. et al. 2009. Elucidation of the complex structure and origin of the human trypsinogen locus triplication. Human Molecular Genetics 18(19), pp. 3605-3614. (10.1093/hmg/ddp308)
- Sanford, J. R. et al. 2009. Splicing factor SFRS1 recognizes a functionally diverse landscape of RNA transcripts. Genome Research 19(3), pp. 381-394. (10.1101/gr.082503.108)
- Steinmann, K., Kluwe, L., Friedrich, R. E., Mautner, V., Cooper, D. N. and Kehrer-Sawatzki, H. 2009. Mechanisms of loss of heterozygosity in neurofibromatosis type 1-associated plexiform neurofibromas. Journal of Investigative Dermatology 129(3), pp. 615-621. (10.1038/jid.2008.274)
- Kolb, J., Chuzhanova, N. A., Högel, J., Vasquez, K. M., Cooper, D. N., Bacolla, A. and Kehrer-Sawatzki, H. 2009. Cruciform-forming inverted repeats appear to have mediated many of the microinversions that distinguish the human and chimpanzee genomes. Chromosome Research 17(4), pp. 469-483. (10.1007/s10577-009-9039-9)
- Kemkemer, C., Kohn, M., Cooper, D. N., Froenicke, L., Högel, J., Hameister, H. and Kehrer-Sawatzki, H. 2009. Gene synteny comparisons between different vertebrates provide new insights into breakage and fusion events during mammalian karyotype evolution. BMC Evolutionary Biology 9(1), article number: 84. (10.1186/1471-2148-9-84)
2008
- Millar, D. S. et al. 2008. Growth hormone (GH1) gene variation and the growth hormone receptor (GHR) exon 3 deletion polymorphism in a West-African population. Molecular and Cellular Endocrinology 296(1-2), pp. 18-25. (10.1016/j.mce.2008.09.023)
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2007
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2006
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2005
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2004
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2003
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2002
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- Cooper, D. N. 2002. Human gene mutation in pathology and evolution [review]. Journal of Inherited Metabolic Disease 25(3), pp. 157-182.
- Upadhyaya, M. and Cooper, D. N. 2002. Molecular diagnosis of facioscapulohumeral muscular dystrophy [review]. Expert Review of Molecular Diagnostics 2(2), pp. 160-171. (10.1586/14737159.2.2.160)
- Cooper, D. N., Nussbaum, R. L. and Krawczak, M. 2002. Proposed guidelines for papers describing DNA polymorphism-disease associations [editorial]. Human Genetics -Berlin- 110(3), pp. 207-208. (10.1007/s00439-001-0672-4)
- Chuzhanova, N. A., Krawczak, M., Thomas, N., Nemytikova, L. A., Gusev, V. D. and Cooper, D. N. 2002. The evolution of the vertebrate beta-globin gene promoter. Evolution -Lawrence Kansas- 56(2), pp. 224-232. (10.1554/0014-3820(2002)056[0224:teotvg]2.0.co;2)
- Antonarakis, S. E., Cooper, D. N. and Krawczak, M. 2002. Mutations in human disease: nature and consequences. In: Rimoin, D. L. et al. eds. Emery & Rimoin's Principles and Practice of Medical Genetics (4th ed.). Edinburgh: Churchill Livingstone, pp. 83-103.
- Cooper, D. N., Antonarakis, S. E. and Krawczak, M. 2002. The nature and mechanisms of human gene mutation. In: Vogelstein, B. and Kinzler, K. W. eds. The Genetic Basis of Human Cancer (2nd ed.). New York: McGraw-Hill, pp. 7-41.
2001
- Han, S. S., Cooper, D. N. and Upadhyaya, M. 2001. Evaluation of denaturing high performance liquid chromatography (DHPLC) for the mutational analysis of the neurofibromatosis type 1 ( NF1) gene. Human Genetics -Berlin- 109(5), pp. 487-497. (10.1007/s004390100594)
- Krawczak, M., Cooper, D. N. and Schmidtke, J. 2001. Estimating the efficacy and efficiency of cascade genetic screening. American Journal of Human Genetics 69(2), pp. 361-370. (10.1086/321973)
- Winter, H. et al. 2001. Human type I hair keratin pseudogene phihHaA has functional orthologs in the chimpanzee and gorilla: evidence for recent inactivation of the human gene after the Pan-Homo divergence. Human Genetics -Berlin- 108(1), pp. 37-42. (10.1007/s004390000439)
- Al-Jader, L. N., Harper, P., Krawczak, M., Palmer, S. R., Johansen, B. N. and Cooper, D. N. 2001. The frequency of inherited disorders database. Human Genetics -Berlin- 108(1), pp. 72-74. (10.1007/s004390000408)
- Martín, M. A. et al. 2001. Resolution of a mispaired secondary structure intermediate could account for a novel micro-insertion/deletion (387 insA/del 8 bp) in the PYGM gene causing McArdle's disease. Clinical Genetics 59(1), pp. 48-51. (10.1034/j.1399-0004.2001.590108.x)
- Upadhyaya, M. and Cooper, D. N. 2001. The molecular genetics of facioscapulohumeral muscular dystrophy. In: Emery, A. E. H. ed. The Muscular Dystrophies. Oxford: Oxford University Press, pp. 137-172.
- Antonarakis, S. E., Krawczak, M. and Cooper, D. N. 2001. The nature and mechanisms of human gene mutation. In: Scriver, C. R. et al. eds. The Metabolic and Molecular Bases of Inherited Disease 8th ed.. New York: McGraw-Hill, pp. 343-377., (10.1036/ommbid.20)
2000
- Antonarakis, S. E., Krawczak, M. and Cooper, D. N. 2000. Disease-causing mutations in the human genome. European Journal of Pediatrics 159(S3), pp. S173-S178. (10.1007/PL00014395)
- Shamsher, M. K. et al. 2000. Identification of an intronic regulatory element in the human protein C (PROC) gene. Human Genetics -Berlin- 107(5), pp. 458-465. (10.1007/s004390000391)
- Gandrille, S. et al. 2000. Protein S deficiency: a database of mutations - summary of the first update. Thrombosis And Haemostasis 84(5), pp. 918-918.
- 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)
- Millar, D. S. et al. 2000. Molecular analysis of the genotype-phenotype relationship in factor VII deficiency. Human Genetics -Berlin- 107(4), pp. 327-342. (10.1007/s004390000373)
- Millar, D. S. et al. 2000. Molecular genetic analysis of severe protein C deficiency. Human Genetics 106(6), pp. 646-653. (10.1007/s004390050038)
- Chuzhanova, N. A., Krawczak, M., Nemytikova, L., Gusev, V. D. and Cooper, D. N. 2000. Promoter shuffling has occurred during the evolution of the vertebrate growth hormone gene. Gene 254(1-2), pp. 9-18. (10.1016/s0378-1119(00)00308-5)
- Horan, M. P., Cooper, D. N. and Upadhyaya, M. 2000. Hypermethylation of the neurofibromatosis type 1 (NF1) gene promoter is not a common event in the inactivation of the NF1 gene in NF1-specific tumours. Human Genetics 107(1), pp. 33-39. (10.1007/s004390000322)
- Osborn, M., Cooper, D. N. and Upadhyaya, M. 2000. Molecular analysis of the 5'-flanking region of the neurofibromatosis type 1 (NF1) gene: identification of five sequence variants. Clinical Genetics 57(3), pp. 221-224. (10.1034/j.1399-0004.2000.570308.x)
- Millar, D. S. et al. 2000. Molecular analysis of the genotype-phenotype relationship in factor X deficiency. Human Genetics -Berlin- 106(2), pp. 249-257. (10.1007/s004390051035)
- Cheadle, J. P. et al. 2000. Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. Human Molecular Genetics 9(7), pp. 1119-1129. (10.1093/hmg/9.7.1119)
- 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., Chuzhanova, N. A. and Cooper, D. N. 1999. Evolution of the proximal promoter region of the mammalian growth hormone gene. Gene 237(1), pp. 143-151. (10.1016/s0378-1119(99)00313-3)
- Wacey, A. I., Cooper, D. N., Liney, D., Hovig, E. and Krawczak, M. 1999. Disentangling the perturbational effects of amino acid substitutions in the DNA-binding domain of p53. Human Genetics -Berlin- 104(1), pp. 15-22. (10.1007/s004390050904)
- 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.
- Cooper, D. N. 1999. Human gene evolution. Oxford: BIOS Scientific.
1998
- Procter, A. M., Phillips, J. A. and Cooper, D. N. 1998. The molecular genetics of growth hormone deficiency [review]. Human Genetics -Berlin- 103(3), pp. 255-272. (10.1007/s004390050815)
- Hallam, P. J. et al. 1998. Three novel PROC gene lesions causing protein C deficiency. Clinical Genetics 54(3), pp. 231-233. (10.1111/j.1399-0004.1998.tb04290.x)
- 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)
- Millar, D. S., Krawczak, M. and Cooper, D. N. 1998. Variation of site-specific methylation patterns in the factor VIII (F8C) gene in human sperm DNA. Human Genetics -Berlin- 103(2), pp. 228-233. (10.1007/s004390050810)
- Krawcak, M. and Cooper, D. N. 1998. p53 mutations, benzo[a]pyrene and lung cancer [review]. Mutagenesis 13(4), pp. 319-320. (10.1093/mutage/13.4.319)
- Upadhyaya, M. et al. 1998. Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay. Human Genetics 102(5), pp. 591-597. (10.1007/s004390050746)
- Upadhyaya, M. and Cooper, D. N. 1998. The mutational spectrum in neurofibromatosis type 1 and its underlying mechanisms. In: Neurofibromatosis type 1: from genotype to phenotype. Human Molecular Genetics Oxford: BIOS, pp. 65-88.
- Cooper, D. N., Krawczak, M. and Antonarakis, S. E. 1998. The nature and mechanisms of human gene mutation. In: Vogelstein, B. and Kinzler, K. W. eds. The Genetic Basis of Human Cancer. New York: McGraw-Hill, pp. 65-94.
- Antonarakis, S., Working Group, N. and Cooper, D. N. (. 1998. Recommendations for a nomenclature system for human gene mutations. Human Mutation 11(1), pp. 1-3. (10.1002/(sici)1098-1004(1998)11:1%3C1::aid-humu1%3E3.0.co;2-o)
- Upadhyaya, M. and Cooper, D. N. eds. 1998. Neurofibromatosis Type 1: from genotype to phenotype. Oxford: BIOS Scientific.
- Cooper, D. N., Ball, E. V. and Krawczak, M. 1998. The human gene mutation database. Nucleic Acids Research 26(1), pp. 285-287. (10.1093/nar/26.1.285)
1997
- Wacey, A. I., Krawczak, M., Kemball-Cook, G. and Cooper, D. N. 1997. Homology modelling of the catalytic domain of early mammalian protein C: evolution of structural features. Human Genetics 101(1), pp. 37-42. (10.1007/s004390050582)
- Cooper, D. N., Millar, D. S., Wacey, A., Banner, D. W. and Tuddenham, E. 1997. Inherited factor VII deficiency: molecular genetics and pathophysiology [review]. Thrombosis and Haemostasis 78(1), pp. 151-160.
- Cooper, D. N., Millar, D. S., Wacey, A., Pemberton, S. and Tuddenham, E. G. 1997. Inherited factor X deficiency: molecular genetics and pathophysiology [review]. Thrombosis and Haemostasis 81(1), pp. 161-172.
- Grandrille, S. et al. 1997. Protein S deficiency: a database of mutations. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis. Thrombosis and Haemostasis 77(6), pp. 1201-1214.
- Ravine, D. and Cooper, D. N. 1997. Adult-onset genetic disease: mechanisms, analysis and prediction [review]. Qjm -Oxford- 90(2), pp. 83-103. (10.1093/qjmed/90.2.83)
- Lane, D. A. et al. 1997. Antithrombin mutation database: 2nd (1997) update. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis [review]. Thrombosis and Haemostasis 77(1), pp. 197-211.
- Upadhyaya, M., Osborn, M. J., Maynard, J. H., Kim, M. R., Tamanoi, F. and Cooper, D. N. 1997. Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene. Human Genetics -Berlin- 99(1), pp. 88-92. (10.1007/s004390050317)
- Krawczak, M. and Cooper, D. N. 1997. The human gene mutation database. Trends in Genetics 13(3), pp. 121-122. (10.1016/S0168-9525(97)01068-8)
- Cooper, D. N. and Krawczak, M. 1997. Venous thrombosis: from genes to clinical medicine. Garland Science.
1996
- Simioni, P., Kalafatis, M., Millar, D. S., Henderson, S. C., Luni, C., Cooper, D. N. and Girolami, A. 1996. Compound heterozygous protein C deficiency resulting in the presence of only the beta-form of protein C in plasma. Blood -New York- 88(6), pp. 2101-2108.
- Berg, L. P. et al. 1996. Aberrant RNA splicing of the protein C and protein S genes in healthy individuals. Blood Coagulation and Fibrinolysis 7(6), pp. 625-631. (10.1097/00001721-199609000-00008)
- Krawczak, M., Wacey, A. and Cooper, D. N. 1996. Molecular reconstruction and homology modelling of the catalytic domain of the common ancestor of the haemostatic vitamin-K-dependent serine proteinases. Human Genetics -Berlin- 98(3), pp. 351-370. (10.1007/s004390050222)
- Benzakour, O., Kanthou, C., Kanse, S. M., Scully, M. F., Kakkar, W. and Cooper, D. N. 1996. Evidence for cultured human vascular smooth muscle cell heterogeneity: isolation of clonal cells and study of their growth characteristics. Thrombosis and Haemostasis 75(5), pp. 854-858.
- Formstone, C. J. et al. 1996. Severe perinatal thrombosis in double and triple heterozygous offspring of a family segregating two independent protein S mutations and a protein C mutation. Blood -New York- 87(9), pp. 3731-3737.
- Krawczak, M. and Cooper, D. N. 1996. Mutational processes in pathology and evolution. In: Jackson, M. S., Dover, G. and Strachan, T. eds. Human genome evolution.. Human Molecular Genetics Oxford: BIOS, pp. 1-33.
- Krawczak, M. and Cooper, D. N. 1996. Single base-pair substitutions in pathology and evolution: two sides to the same coin. Human Mutation 8(1), pp. 23-31. (10.1002/(sici)1098-1004(1996)8:1%3C23::aid-humu3%3E3.3.co;2-h)
- Lemoine, N. and Cooper, D. N. eds. 1996. Gene therapy. Oxford: BIOS Scientific.
1995
- Benzakour, O. et al. 1995. Prothrombin cleavage by human vascular smooth muscle cells: a potential alternative pathway to the coagulation cascade. Journal of Cellular Biochemistry 59(4), pp. 514-528. (10.1002/jcb.240590411)
- Formstone, C. J. et al. 1995. Detection and characterization of seven novel protein S (PROS) gene lesions: evaluation of reverse transcript-polymerase chain reaction as a mutation screening strategy. Blood -New York- 86(7), pp. 2632-2641.
- Krawczak, M., Reitsma, P. H. and Cooper, D. N. 1995. The mutational demography of protein C deficiency. Human Genetics -Berlin- 96(2), pp. 142-146. (10.1007/bf00207369)
- Benzakour, O., Kanthou, C., Dennehy, U., al Haq, A., Berg, L. P., Kakkar, V. V. and Cooper, D. N. 1995. Evaluation of the use of the luciferase-reporter-gene system for gene-regulation studies involving cyclic AMP-elevating agents. Biochemical Journal -London- 309(2), pp. 385-387.
- Tuddenham, E. G., Pemberton, S. and Cooper, D. N. 1995. Inherited factor VII deficiency: genetics and molecular pathology [review]. Thrombosis and Haemostasis 74(1), pp. 313-321.
- Hallam, P. J., Millar, D. S., Krawczak, M., Kakkar, W. and Cooper, D. N. 1995. Population differences in the frequency of the factor V Leiden variant among people with clinically symptomatic protein C deficiency. Journal of Medical Genetics 32(7), pp. 543-545. (10.1136/jmg.32.7.543)
- Farzaneh, F. and Cooper, D. N. eds. 1995. The functional analysis of the human genome. Oxford: BIOS Scientific.
- Benzakour, O. et al. 1995. Evidence for a protein S receptor(s) on human vascular smooth muscle cells. Analysis of the binding characteristics and mitogenic properties of protein S on human vascular smooth muscle cells. Biochemical Journal -London- 308(2), pp. 481-485.
- Scopes, D., Berg, L. P., Krawczak, M., Kakkar, W. and Cooper, D. N. 1995. Polymorphic variation in the human protein C (PROC) gene promoter can influence transcriptional efficiency in vitro. Blood Coagulation and Fibrinolysis 6(4), pp. 317-321. (10.1097/00001721-199506000-00004)
- Hallam, P. J. et al. 1995. A novel missense mutation (Thr176-->Ile) at the putative hinge of the neo N-terminus of activated protein C. Human Genetics 95(4), pp. 447-450. (10.1007/bf00208974)
- Millar, D., Bevan, D., Chitolie, A., Reynaud, J., Chisholm, M., Kakkar, V. V. and Cooper, D. N. 1995. Three novel mutations in the protein C (PROC) gene causing venous thrombosis. Blood Coagulation and Fibrinolysis 6(2), pp. 138-140. (10.1097/00001721-199504000-00009)
- Cooper, D. N. 1995. Mapping the human genome. In: Farzaneh, F. and Cooper, D. N. eds. The functional analysis of the human genome. Human Molecular Genetics Oxford: BIOS, pp. 43-68.
- Cooper, D. N. 1995. Structure and function in the human genome. In: Farzaneh, F. and Cooper, D. N. eds. The functional analysis of the human genome. Human Molecular Genetics Oxford: BIOS, pp. 1-41.
- Cooper, D. N., Krawczak, M. and Antonarakis, S. E. 1995. The nature and mechanisms of human gene mutation. In: Scriver, C. R. et al. eds. The Metabolic and Molecular Bases of Inherited Disease., Vol. 1. New York: McGraw-Hill, pp. 259-291.
- Berg, L. P., Scopes, D. A., Kakkar, V. V. and Cooper, D. N. 1995. Analysis of promoter mutations causing human genetic disease. In: Adolph, K. W. ed. Methods in molecular genetics. Academic Press, pp. 261-277.
- Krawczak, M., Smith-Sorensen, B., Schmidtke, J., Kakkar, V. V., Cooper, D. N. and Hoviq, E. 1995. Somatic spectrum of cancer-associated single basepair substitutions in the TP53 gene is determined mainly by endogenous mechanisms of mutation and by selection. Human Mutation 5(1), pp. 48-57. (10.1002/humu.1380050107)
1994
- Wacey, A., Krawczak, M., Kakkar, V. and Cooper, D. N. 1994. Determinants of the factor IX mutational spectrum in haemophilia B: an analysis of missense mutations using a multi-domain molecular model of the activated protein. Human Genetics 94(6), pp. 594-608. (10.1007/bf00206951)
- Berg, L. P., Scopes, D. A., Alhaq, A., Kakkar, V. V. and Cooper, D. N. 1994. Disruption of a binding site for hepatocyte nuclear factor 1 in the protein C gene promoter is associated with hereditary thrombophilia. Human Molecular Genetics 3(12), pp. 2147-2152. (10.1093/hmg/3.12.2147)
- Millar, D. S. et al. 1994. Three novel missense mutations in the antithrombin III (AT3) gene causing recurrent venous thrombosis. Human Genetics 94(5), pp. 509-512. (10.1007/bf00211016)
- Millar, D. S., Allgrove, J., Rodeck, C., Kakkar, V. V. and Cooper, D. N. 1994. A homozygous deletion/insertion mutation in the protein C (PROC) gene causing neonatal Purpura fulminans: prenatal diagnosis in an at-risk pregnancy. Blood Coagulation and Fibrinolysis 5(4), pp. 647-649.
- Tuddenham, E. G. D. et al. 1994. Haemophilia A: database of nucleotide substitutions, deletions, insertionsand rearrangements of the factory VIII gene, second edition. Nucleic Acids Research 22(22), pp. 4851-4868. (10.1093/nar/22.22.4850)
- Cooper, D. N. 1994. The molecular genetics of familial venous thrombosis. Baillière's Clinical Haematology 7(3), pp. 637-674. (10.1016/S0950-3536(05)80102-7)
- Millar, D. S., Kakkar, V. V. and Cooper, D. N. 1994. Screening for inversions in the factor VIII (F8) gene causing severe haemophilia A. Blood Coagulation and Fibrinolysis 5(2), pp. 239-242. (10.1097/00001721-199404000-00013)
- Berg, L. -., Varon, D., Martinowitz, U., Wieland, K., Kakkar, V. V. and Cooper, D. N. 1994. Combined factor VIII/factor XI deficiency may cause intra-familial clinical variability in haemophilia A among Ashkenazi Jews. Blood Coagulation and Fibrinolysis 5(1), pp. 59-62. (10.1097/00001721-199402000-00009)
- Cooper, D. N., Berg, L., Kakkar, V. V. and Reiss, J. 1994. Ectopic (Illegitimate) transcription: new possibilities for the analysis and diagnosis of human genetic disease. Annals of Medicine 26(1), pp. 9-14. (10.3109/07853899409147321)
- Tuddenham, E. G. D. and Cooper, D. N. 1994. The molecular genetics of haemostasis and its inherited disorders. Oxford Monographs on Medical Genetics. Oxford: Oxford University Press.
1993
- Lane, D. A. et al. 1993. Antithrombin III mutation database: first update. for the thrombin and its inhibitors subcommittee of the scientific and standardization committee of the international society on thrombosis and haemostasis. Thrombosis and Haemostasis 70(2), pp. 361-369.
- Reitsma, P. H., Poort, S. R., Bernardi, F., Gandrille, S., Long, G. L., Sala, N. and Cooper, D. N. 1993. Protein C deficiency: a database of mutations. for the protein C & S subcommittee of the scientific and standardization committee of the international society on thrombosis and haemostasis. Thrombosis and Haemostasis 69(1), pp. 77-84.
- Schmidtke, K. and Cooper, D. N. 1993. Diagnosis of human genetic disease using recombinant DNA techniques: an overview. In: Verma, R. S. ed. Morbid anatomy of the genome. Advances in Genome Biology Vol. 2. Greenwich, CN: JAI Press, pp. 1-39.
- Cooper, D. N. and Farzaneh, F. 1993. Molecular genetic approaches to the analysis and diagnosis of human inherited disease. In: Chervenak, F. A., Isaacson, G. and Campbell, S. eds. Ultrasound in obstetrics and gynaecology., Vol. 1. Boston: Little, Brown & Co, pp. 795-798.
- Cooper, D. N. and Reitsma, P. H. 1993. The molecular genetics of protein C deficiency. In: Polli, E. E. ed. The molecular bases of human diseases. Amsterdam: Excerpta Medica, Elsevier, pp. 131-138.
- Girolami, A. et al. 1993. A novel dysfunctional protein C (Protein C Padua 2) associated with a thrombotic tendency: substitution of Cys for Arg-1 results in a strongly reduced affinity for binding of Ca++. British Journal of Haematology 85(3), pp. 521-527. (10.1111/j.1365-2141.1993.tb03342.x)
- Cooper, D. N. and Schmidtke, J. 1993. Diagnosis of human genetic disease using recombinant DNA. Human Genetics 92(3), pp. 211-236. (10.1007/BF00244464)
- Takamlya, O. et al. 1993. Detection of missense mutations by single-strand conformational polymorphism (SSCP) analysis in five dysfunctional variants of coagulation factor VII. Human Molecular Genetics 2(9), pp. 1355-1359. (10.1093/hmg/2.9.1355)
- Millar, D. S., Wacey, A. I., Voke, J., Kakkar, V. V. and Cooper, D. N. 1993. A novel point mutation (Val 297->Met) in the serine proteinase domain of protein C in a patient with both venous and arterial thromboembolic disease. Blood Coagulation and Fibrinolysis 4(4), pp. 631-634. (10.1097/00001721-199308000-00015)
- Marchetti, G. et al. 1993. Symptomatic type II protein C deficiency caused by a missense mutation (Gly 381 -> Ser) in the substrate-binding pocket. British Journal of Haematology 84(2), pp. 285-289. (10.1111/j.1365-2141.1993.tb03066.x)
- Millar, D. S., Grundy, C. B., Bignell, P., Moffat, E. H., Martin, R., Kakkar, V. V. and Cooper, D. N. 1993. A Gla domain mutation (Arg 15-->Trp) in the protein C (PROC) gene causing type 2 protein C deficiency and recurrent venous thrombosis. Blood Coagulation and Fibrinolysis 4(2), pp. 345-347. (10.1097/00001721-199304000-00014)
- Millar, D. S. et al. 1993. A novel nonsense mutation in the protein C (PROC) gene (Trp-29-->Term) causing recurrent venous thrombosis. Human Genetics 91(2), pp. 196-196. (10.1007/BF00222726)
- Wacey, A. I., Pemberton, S., Cooper, D. N., Kakkar, V. V. and Tuddenham, E. G. D. 1993. A molecular model of the serine protease domain of activated protein C: application to the study of missense mutations causing protein C deficiency. British Journal of Haematology 84(2), pp. 290-300. (10.1111/j.1365-2141.1993.tb03067.x)
- Cooper, D. N. 1993. Human gene mutations affecting RNA processing and translation. Annals of Medicine 25(1), pp. 11-17. (10.3109/07853899309147851)
- Millar, D. S. et al. 1993. Screening for mutations in the antithrombin III gene causing recurrent venous thrombosis by single-strand conformation polymorphism analysis. Human Mutation 2(4), pp. 324-326. (10.1002/humu.1380020416)
- Cooper, D. N. and Krawczak, M. 1993. Human gene mutation. Oxford: BIOS Scientific.
1992
- White, D., Abraham, G., Carter, C., Kakkar, V. V. and Cooper, D. N. 1992. A novel missense mutation in the antithrombin III gene (Ala387-->Val) causing recurrent venous thrombosis. Human Genetics 90(4), pp. 472-473. (10.1007/BF00220482)
- Krawczak, M., Reiss, J. and Cooper, D. N. 1992. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Human Genetics 90(1-2), pp. 41-54. (10.1007/BF00210743)
- Grundy, C. B., Chisholm, M., Kakkar, V. and Cooper, D. N. 1992. A novel homozygous missense mutation in the protein C (PROC) gene causing recurrent venous thrombosis. Human Genetics 89(6), pp. 683-684. (10.1007/BF00221963)
- Berg, L. et al. 1992. De novo splice site mutation in the antithrombin III (AT3) gene causing recurrent venous thrombosis: demonstration of exon skipping by ectopic transcript analysis. Genomics 13(4), pp. 1359-1361. (10.1016/0888-7543(92)90070-9)
- Grundy, C. B., Schulman, S., Tengborn, L., Kakkar, V. V. and Cooper, D. N. 1992. Two different missense mutations at Arg 178 of the protein C (PROC) gene causing recurrent venous thrombosis. Human Genetics 89(6), pp. 685-686. (10.1007/BF00221964)
- Schmidtke, J. and Cooper, D. N. 1992. A comprehensive list of cloned human DNA sequences--1991 update. Nucleic Acids Research 20(suppl), pp. 2181-2198. (10.1093/nar/20.suppl.2181)
- Grundy, C. B., Holding, S., Millar, D. S., Kakkar, V. V. and Cooper, D. N. 1992. A novel missense mutation in the antithrombin III gene (Ser349-->Pro) causing recurrent venous thrombosis. Human Genetics -Berlin- 88(6), pp. 707-708. (10.1007/BF02265306)
- Grundy, C. B., Schulman, S., Krawczak, M., Kobosko, J., Kakkar, V. V. and Cooper, D. N. 1992. Protein C deficiency and thromboembolism: recurrent mutation at Arg 306 in the protein C gene. Human Genetics 88(5), pp. 586-588. (10.1007/BF00219350)
- Cooper, D. N. and Schmidtke, J. 1992. Molecular genetic approaches to the analysis and diagnosis of human inherited disease: an overview. Annals of Medicine 24(1), pp. 29-42. (10.3109/07853899209164142)
- Schwartz, M., Cooper, D. N., Millart, D. S., Kakkar, V. V. and Scheibel, E. 1992. Prenatal exclusion of haemophilia a and carrier testing by direct detection of a disease lesion. Prenatal Diagnosis 12(11), pp. 861-866. (10.1002/pd.1970121103)
- Millar, D. S., Cooper, D. N., Kakkar, V., Schwartz, M. and Scheibel, E. 1992. Prenatal exclusion of severe factor VII deficiency by DNA sequencing. The Lancet 339(8805), pp. 1359-1359. (10.1016/0140-6736(92)92005-Z)
- Cooper, D. N. 1992. Regulatory mutations and human genetic disease. Annals of Medicine 24(6), pp. 427-437. (10.3109/07853899209166991)
- Plieth, J., Rininsland, F., Schlösser, M., Cooper, D. N. and Reiss, J. 1992. Single-strand conformation polymorphism (SSCP) analysis of exon 11 of the CFTR gene reliably detects more than one third of non-ΔF508 mutations in German cystic fibrosis patients. Human Genetics 88(3), pp. 283-287. (10.1007/BF00197260)
1991
- Grundy, C. B. et al. 1991. Recurrent deletion in the human antithrombin III gene. Blood 78(4), pp. 1027-1032.
- Hancock, J. F. et al. 1991. A molecular genetic study of factor XI deficiency. Blood 77(9), pp. 1942-1948.
- Millar, D. S., Green, P. J., Zoll, B., Kakkar, V. V. and Cooper, D. N. 1991. Carrier detection in haemophilia A by direct analysis of factor VIII gene lesions. Human Genetics 87(1), pp. 99-100.
- Cooper, D. N. 1991. The molecular genetic analysis of familial venous thrombosis. Blood Reviews 5(1), pp. 55-70. (10.1016/0268-960X(91)90009-2)
- Cooper, D. N. et al. 1991. Application of PCR to the detection and analysis of point mutations in the human factor VIII gene. In: Rolfs, A., Schumacer, H. C. and Marx, P. eds. PCR topics: usage of polymerase chain reaction in genetic and infectious diseases. Berlin: Springer Verlag, pp. 23-31.
- Cooper, D. N. 1991. The molecular genetics of platelet membrane proteins and their inherited disorders. Platelets 2(2), pp. 59-67. (10.3109/09537109109113690)
- Tuddenham, E. G. D. et al. 1991. Haemophilia A: database of ncleotide substituttions, deletions, insertions and rearrangements of the factor VIII gene. Nucleic Acids Research 19(18), pp. 4821-4833. (10.1093/nar/19.18.4821)
- Cooper, D. N. and Schmidtke, J. 1991. Diagnosis of genetic disease using recombinant DNA. third edition. Human Genetics -Berlin- 87(5), pp. 519-560. (10.1007/BF00209011)
- Millar, D. S., Zoll, B., Martinowitz, U., Kakkar, V. V. and Cooper, D. N. 1991. The molecular genetics of haemophilia A: screening for point mutations in the factor VIII gene using the restriction enzyme TaqI. Human Genetics -Berlin- 87(5), pp. 607-612. (10.1007/BF00209022)
- Reiss, J., Cooper, D. N., Bal, J., Slomski, R., Cutting, G. R. and Krawczak, M. 1991. Discrimination between recurrent mutation and identity by descent: application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene. Human Genetics -Berlin- 87(4), pp. 457-461. (10.1007/BF00197168)
- Cooper, D. N. and Krawczak, M. 1991. Mechanisms of insertional mutagenesis in human genes causing genetic disease. Human Genetics 87(4), pp. 409-415. (10.1007/BF00197158)
- Schmidtke, J. and Cooper, D. N. 1991. A comprehensive list of cloned human DNA sequences--1990 update. Nucleic Acids Research 19(suppl), pp. 2111-2126. (10.1093/nar/19.suppl.2111)
- Krawczak, M. and Cooper, D. N. 1991. Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment. Human Genetics -Berlin- 86(5), pp. 425-441. (10.1007/BF00194629)
- Peinemann, F., Cooper, D. N., Grzeschik, K. -. and Schmidtke, J. 1991. A novel human multi-locus DNA family detected by pJU78 (DF31). Human Genetics -Berlin- 86(4), pp. 394-397. (10.1007/BF00201842)
- Grundy, C., Plendl, H., Grote, W., Zoll, B., Kakkar, V. V. and Cooper, D. N. 1991. A single base-pair deletion in the protein C gene causing recurrent thromboembolism. Thrombosis Research 61(3), pp. 335-340. (10.1016/0049-3848(91)90111-9)
- Grundy, C. B., Melissari, E., Lindo, V., Scully, M. F., Kakkar, V. V. and Cooper, D. N. 1991. Late-onset homozygous protein C deficiency. The Lancet 338(8766), pp. 575-576. (10.1016/0140-6736(91)91144-J)
- Williamson, R. et al. 1991. Report of the DNA committee and catalogues of cloned and mapped genes, markers formatted for PCR and DNA polymorphisms. Cytogenetic and Genome Research 58(3-4), pp. 1190-1211. (10.1159/000133727)
- Wieland, K., Millar, D. S., Grundy, C. B., Mibashan, R. S., Kakkar, V. V. and Cooper, D. N. 1991. Molecular genetic analysis of factor X deficiency: gene deletion and germline mosaicism. Human Genetics 86(3), pp. 273-278. (10.1007/BF00202408)
1990
- Schloesser, M., Slomski, R., Wagner, M., Reiss, J., Berg, L. P., Kakker, V. V. and Cooper, D. N. 1990. Characterization of pathological dystrophin transcripts from the lymphocytes of a muscular-dystrophy carrier. Molecular biology & medicine 7(6), pp. 519-523.
- Jedlicka, P. et al. 1990. Improved carrier detection of haemophilia A using novel RFLPs at the DXS115 (767) locus. Human Genetics 85(3), pp. 315-318.
- Williamson, R. et al. 1990. Report of the DNA committee and catalogues of cloned and mapped genes and DNA polymorphisms (part 1 of 14). Cytogenetic and Genome Research 55(1-4), pp. 457-472. (10.1159/000133027)
- Millar, D. S. et al. 1990. The molecular genetic analysis of haemophilia A; characterization of six partial deletions in the factor VIII gene. Human Genetics 86(2), pp. 219-227. (10.1007/BF00197709)
- Berg, L. et al. 1990. Detection of a novel point mutation causing haemophilia A by PCR/direct sequencing of ectopically-transcribed factor VIII mRNA. Human Genetics 85(6), pp. 655-658. (10.1007/BF00193593)
- Wieland, K., Berg, L., Kakkar, V., Cooper, D. N. and Martinowitz, U. 1990. Molecular genetic analysis of a novel form of haemophilia a characterized by the variable expression of factor VIII. Thrombosis Research 59(5), pp. 871-877. (10.1016/0049-3848(90)90400-7)
- Reiss, J. and Cooper, D. N. 1990. Application of the polymerase chain reaction to the diagnosis of human genetic disease. Human Genetics 85(1), pp. 1-8. (10.1007/BF00276316)
- Cooper, D. N. and Krawczak, M. 1990. The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions. Human Genetics 85(1), pp. 55-74. (10.1007/BF00276326)
- Schmidtke, J. and Cooper, D. N. 1990. A comprehensive list of cloned human DNA sequences. Nucleic Acids Research 18(suppl), pp. 2413-2547. (10.1093/nar/18.suppl.2413)
- Turner, J., Grundy, C. B., Kakkar, V. V. and Cooper, D. N. 1990. Mspl RFLP in the human heparin cofactor II (HCF2) gene. Nucleic Acids Research 18(6), pp. 1664. (10.1093/nar/18.6.1664-a)
- Reiss, J., Krawczak, M., Schloesser, M., Wagner, M. and Cooper, D. N. 1990. The effect of replication errors on the mismatch analysis of PCR-amplified DNA. Nucleic Acids Research 18(4), pp. 973-978. (10.1093/nar/18.4.973)
- Hentemann, M., Reiss, J., Wagner, M. and Cooper, D. N. 1990. Rapid detection of deletions in the Duchenne muscular dystrophy gene by PCR amplification of deletion-prone exon sequences. Human Genetics 84(3), pp. 228-232. (10.1007/BF00200564)
- Reis, A. et al. 1990. Cloning and sequence analysis of the human parathyroid hormone gene region. Human Genetics 84(2), pp. 119-124. (10.1007/BF00208924)
- Pattinson, J. K. et al. 1990. The molecular genetic analysis of hemophilia A: a directed search strategy for the detection of point mutations in the human factor VIII gene. Blood 76(11), pp. 2242-2248.
1989
- Beaudet, A. L., Scriver, C. R., Sly, W. S., Valle, D., Cooper, D. N., McKusick, V. A. and Schmidtke, J. 1989. Genetics and biochemistry of variant human phenotypes. In: Scriver, C. R. et al. eds. The metabolic basis of inherited disease (6th ed.). New York: McGraw-Hill, pp. 3-168.
- Schmidtke, J. and Cooper, D. N. 1989. Recombinant DNA technology in the diagnosis of human inherited disease. Presented at: Thirteenth International Congress of Clinical Chemistry, and the Seventh European Congress of Clinical Chemistry, 28 June- 3 July 1987, The Hague, The Netherlands Presented at den Boer, N. C. et al. eds.Clinical chemistry: An Overview: Proceedings of the Thirteenth International Congress of Clinical Chemistry, and the Seventh European Congress of Clinical Chemistry, held June 28-July 3, 1987, in The Hague, The Netherlands. New York: Plenum Publishing pp. 45-54.
- Schmidtke, J. and Cooper, D. N. 1989. A comprehensive list of cloned human DNA sequence. Nucleic Acids Research 17(suppl), pp. r173-r281. (10.1093/nar/17.suppl.r173)
- Grundy, C., Chitolie, A., Talbot, S., Bevan, D., Kakkar, V. and Cooper, D. N. 1989. Protein C London 1: recurrent mutation at Arg 169 (CGG—TGG)) in the protein C gene causing thrombosis. Nucleic Acids Research 17(24), pp. 10513. (10.1093/nar/17.24.10513)
- Cooper, D. N. and Schmidtke, J. 1989. Diagnosis of genetic disease using recombinant DNA. Second edition. Human Genetics 83(4), pp. 307-334. (10.1007/BF00291376)
- Cooper, D. N. and Krawczak, M. 1989. Cytosine methylation and the fate of CpG dinucleotides in vertebrate genomes. Human Genetics 83(2), pp. 181-188. (10.1007/BF00286715)
- Cooper, D. N. 1989. Genetic risk in medicine today. The Geneva Papers On Risk And Insurance 2(133), pp. 9-17.
1988
- Schmidtke, J. and Cooper, D. N. 1988. A comprehensive list of cloned human DNA sequences. Nucleic Acids Research 16(suppl), pp. r403-r480. (10.1093/nar/16.suppl.r403)
- Cooper, D. N. and Clayton, J. F. 1988. DNA polymorphism and the study of disease associations. Human Genetics 78(4), pp. 299-312. (10.1007/BF00291724)
- Cooper, D. N. and Youssoufian, H. 1988. The CpG dinucleotide and human genetic disease. Human Genetics 78(2), pp. 151-155. (10.1007/BF00278187)
- Cooper, D. N. and Hall, C. 1988. Down's syndrome and the molecular biology of chromosome 21. Progress in Neurobiology 30(6), pp. 507-530. (10.1016/0301-0082(88)90033-0)
- Cooper, D. N. and Mibashan, . 1988. Carrier testing in the haemophilias. Haemophilia Society Bulletin, pp. 4-6.
1987
- Cooper, D. N. et al. 1987. Regional localization and characterization of a DNA segment on the long arm of chromosome 21. Human Genetics 75(2), pp. 129-135. (10.1007/BF00591073)
- Cooper, D. N., Zoll, B., Moesseler, J. and Schmidtke, J. 1987. Konduktorinnennachweis und Praenataldiagnose bei Haemophilie A und B mit genetechnologischen Untersuchungsmethoden. Presented at: 16 Hämophilie-Symposion, Hamburg, Germany, 1985 Presented at Landbeck, G. and Marx, R. eds.Proceedings of 16. Hämophilie-Symposion, Hamburg, Germany, 1985. Hämophilie-Symposium Berlin: Springer pp. 286-293.
- Schmidtke, J. and Cooper, D. N. 1987. A comprehensive list of cloned human DNA sequences. Nucleic Acids Research 15(suppl), pp. r1-r51. (10.1093/nar/15.suppl.r1)
- Cooper, D. N. and Schmidtke, J. 1987. Diagnosis of genetic disease using recombinant DNA. Supplement. Human Genetics 77(1), pp. 66-75. (10.1007/BF00284717)
- Cooper, D. N. and Schmidtke, J. 1987. Human gene cloning and disease analysis. The Lancet 329(8527), pp. 273-273. (10.1016/S0140-6736(87)90090-0)
- Goate, A. M., Cooper, D. N., Hall, C., Leung, T. K. C., Solomon, E. and Lim, L. 1987. Localization of a human heat-shock HSP 70 gene sequence to chromosome 6 and detection of two other loci by somatic-cell hybrid and restriction fragment length polymorphism analysis. Human Genetics 75(2), pp. 123-128. (10.1007/BF00591072)
- Cooper, D. N., Jay, M., Bhattacharya, S. and Jay, B. 1987. Molecular genetic approaches to the analysis of human ophthalmic disease. Eye 1(6), pp. 699-721. (10.1038/eye.1987.114)
- Gerber-Huber, S. et al. 1987. Precursor-product relationship between vitellogenin and the yolk proteins as derived from the complete sequence of aXenopusvitellogenin gene. Nucleic Acids Research 15(12), pp. 4737-4760. (10.1093/nar/15.12.4737)
- Cooper, D. N., Gerber-Huber, S., Nardelli, D., Schubiger, J. and Wahli, W. 1987. The distribution of the dinucleotide CpG and cytosine methylation in the vitellogenin gene family. Journal of Molecular Evolution 25(2), pp. 107-115. (10.1007/BF02101752)
- Hall, C., Lowndes, C. M., Leung, T. K., Cooper, D. N., Goate, A. M. and Lim, L. 1987. Expression and developmental regulation of 2 unique mRNAs specific to brain membrane-bound polyribosomes. Biochemical Journal -London- 244(2), pp. 359-366.
- Cooper, D. N. 1987. Can you buy insurance for your genes?. New Scientist 115(1569), pp. 51-51.
- Cooper, D. 1987. Gene expression in brain. FEBS Letters, pp. 201-202.
1986
- Cooper, D. N. and Schmidtke, J. 1986. Restriction fragment length polymorphisms in the human genome. In: Roberts, D. F. and Stefano, G. F. eds. Genetic variation and its maintenance. Cambridge: Cambridge University Press, pp. 53-75.
- Cooper, D. N. 1986. The application of recombinant DNA methodology to the diagnosis of inherited disease. Presented at: International Symposium on First Trimester Fetal Diagnosis, Lausanne, Switzerland, 1-2 November 1985 Presented at Pescia, G. and Nguyen The, H. eds.Chorionic Villi Sampling: Proceedings of International Symposium on First Trimester Fetal Diagnosis, Lausanne, Switzerland, 1-2 November 1985. Contributions to gynaecology and obstetrics Vol. 15. Basel: Karger pp. 90-103.
- Cooper, D. and Schmidtke, J. 1986. Diagnosis of genetic disease using recombinant DNA. Human Genetics 73(1), pp. 1-11. (10.1007/BF00292654)
- Schmidtke, J., Krawczak, M. and Cooper, D. N. 1986. Human gene cloning: the storm before the lull?. Nature 322(6075), pp. 119-119. (10.1038/322119a0)
- Willichowski, E., Cooper, D. N. and Schmidtke, J. 1986. Genetisch bedingte Erkrankungen: Analyse und Diagnose mittles rekombinanter DNA-Technologie. Diagnose und Labor 36(4), pp. 141-157.
- Cooper, D. N. 1986. Molecular genetic approaches to the analysis of inherited neurological disease. Annals of Clinical Research 18(5-6), pp. 264-270.
- Bartels, I., Grzeschik, K. H., Cooper, D. N. and Schmidtke, J. 1986. Regional mapping of six cloned DNA sequences on human chromosome 7. American Journal of Human Genetics 38(3), pp. 280-287.
- Cooper, D. N. 1986. The application of recombinant DNA methodology to the diagnosis of inherited disease. Contributions to Gynecology and Obstetrics 15, pp. 90-103.
1985
- Cooper, D. N., Smith, B. A., Cooke, H. J., Niemann, S. and Schmidtke, J. 1985. An estimate of unique DNA sequence heterozygosity in the human genome. Human Genetics 69(3), pp. 201-205. (10.1007/BF00293024)
- Cooper, D. N. and Gerber-Huber, S. 1985. DNA methylation and CpG suppression. Cell Differentiation 17(3), pp. 199-205. (10.1016/0045-6039(85)90488-9)
- Zoll, B. et al. 1985. Evidence against close linkage of the loci for fraXq of Martin-Bell syndrome and for factor IX. Human Genetics 71(2), pp. 122-126. (10.1007/BF00283366)
- Cooper, D. N. 1985. Murine retroviral vectors and Human gene therapy. Science 228(4700), pp. 650. (10.1126/science.228.4700.650-a)
1984
- Schmidtke, J. and Cooper, D. N. 1984. A list of cloned human DNA sequences-supplement. Human Genetics 67(1), pp. 111-114. (10.1007/BF00270569)
- Cooper, D. N. and Schmidtke, J. 1984. DNA restriction fragment length polymorphisms and heterozygosity in the human genome. Human Genetics 66(1), pp. 1-16. (10.1007/BF00275182)
- Schmidtke, J., Pape, B., Krengel, U., Langenbeck, U., Cooper, D. N., Breyel, E. and Mayer, H. 1984. Restriction fragment length polymorphisms at the human parathyroid hormone gene locus. Human Genetics 67(4), pp. 428-431. (10.1007/BF00291404)
1983
- Schmidtke, J. and Cooper, D. N. 1983. A list of cloned human DNA sequences. Human Genetics 65(1), pp. 19-26. (10.1007/BF00285023)
- Bower, D. J., Errington, L. H., Cooper, D. N., Morris, S. and Clayton, R. M. 1983. Chicken lens δ-crystallin gene expression and methylation in several non-lens tissues. Nucleic Acids Research 11(9), pp. 2513-2527. (10.1093/nar/11.9.2513)
- Cooper, D. N. 1983. Eukaryotic DNA methylation. Human Genetics 64(4), pp. 315-333. (10.1007/BF00292363)
- Errington, L. H., Cooper, D. N. and Clayton, R. M. 1983. The pattern of DNA methylation in the δ-Crystallin genes in transdifferentiating neural retina cultures. Differentiation 24(1-3), pp. 33-38. (10.1111/j.1432-0436.1983.tb01299.x)
- Cooper, D. N., Taggart, M. H. and Bird, A. P. 1983. Unmethlated domains in vertebrate DNA. Nucleic Acids Research 11(3), pp. 647-658. (10.1093/nar/11.3.647)
- Cooper, D. N., Errington, L. H. and Clayton, R. M. 1983. Variation in the DNA methylation pattern of expressed and nonexpressed genes in chicken. DNA 2(2), pp. 131-140. (10.1089/dna.1983.2.131)
Articles
- Wang, M. et al. 2024. SEC16A variants predispose to chronic pancreatitis by impairing ER‐to‐Golgi Transport and inducing ER stress. Advanced Science (10.1002/advs.202402550)
- Kars, M. E., Wu, Y., Stenson, P. D., Cooper, D. N., Burisch, J., Peter, I. and Itan, Y. 2024. The landscape of rare genetic variation associated with inflammatory bowel disease and Parkinson’s disease comorbidity. Genome Medicine 16(1), article number: 66. (10.1186/s13073-024-01335-2)
- Hu, J. et al. 2024. NextDenovo: an efficient error correction and accurate assembly tool for noisy long reads. Genome Biology 25(1), article number: 107. (10.1186/s13059-024-03252-4)
- Qi, M., Zhang, H., Xiu, X., He, D., Cooper, D. N., Yang, Y. and Zhao, H. 2024. Genetic evidence for T-wave area from 12-lead electrocardiograms to monitor cardiovascular diseases in patients taking diabetes medications. Human Genetics (10.1007/s00439-024-02661-6)
- Zhuang, X. et al. 2024. Divergent evolutionary rates of primate brain regions as revealed by genomics and transcriptomics. Genome Biology and Evolution 16(2), article number: evae023. (10.1093/gbe/evae023)
- Lopes-Marques, M., Mort, M., Carneiro, J., Azevedo, A., Amaro, A. P., Cooper, D. N. and Azevedo, L. 2024. Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease. Human Genomics 18(1), article number: 20. (10.1186/s40246-024-00587-8)
- Hu, B., Zhuang, X., Zhou, L., Zhang, G., Cooper, D. N. and Wu, D. 2024. Deciphering the role of rapidly evolving conserved elements in primate brain development and exploring their potential involvement in Alzheimer's Disease. Molecular Biology and Evolution 41(1), article number: msae001. (10.1093/molbev/msae001)
- Duffy, ?. et al. 2024. Development of a human genetics-guided priority score for 19,365 genes and 399 drug indications. Nature Genetics 56(1), pp. 51-59. (10.1038/s41588-023-01609-2)
- Shiferaw, H. K., Hong, C. S., Cooper, D. N., Johnston, J. J. and Biesecker, L. G. 2023. Genome-wide identification of dominant polyadenylation hexamers for use in variant classification. Human Molecular Genetics 32(23), pp. 3211-3224., article number: ddad136. (10.1093/hmg/ddad136)
- Stein, D. et al. 2023. Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set. Genome Medicine 15(1), article number: 103. (10.1186/s13073-023-01261-9)
- Zhang, P. et al. 2023. Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites. Proceedings of the National Academy of Sciences of the United States of America 120(46), article number: e2314225120. (10.1073/pnas.2314225120)
- Lin, S., Zhang, H., Qi, M., Cooper, D. N., Yang, Y., Yang, Y. and Zhao, H. 2023. Inferring the genetic relationship between brain imaging-derived phenotypes and risk of complex diseases by Mendelian randomization and genome-wide colocalization. NeuroImage 279, article number: 120325. (10.1016/j.neuroimage.2023.120325)
- Masson, E. et al. 2023. Classification of PRSS1 variants responsible for chronic pancreatitis: An expert perspective from the Franco-Chinese GREPAN Study Group. Pancreatology 23(5), pp. 491-506. (10.1016/j.pan.2023.04.004)
- Masson, E. et al. 2023. Identification of protease-sensitive but not misfolding PNLIP variants in familial and hereditary pancreatitis. Pancreatology 23(5), pp. 507-511. (10.1016/j.pan.2023.05.011)
- Zhuang, X. et al. 2023. Integrative omics reveals rapidly evolving regulatory sequences driving primate brain evolution. Molecular Biology and Evolution 40(8), article number: msad173. (10.1093/molbev/msad173)
- Zhang, G. et al. 2023. Frameshift coding sequence variants in the LPL gene: identification of two novel events and exploration of the genotype–phenotype relationship for variants reported to date. Lipids in Health and Disease 22(1), article number: 128. (10.1186/s12944-023-01898-w)
- Hu, Y. et al. 2023. The East Asian-specific LPL p.Ala288Thr (c.862G > A) missense variant exerts a mild effect on protein function. Lipids in Health and Disease 22, article number: 119. (10.1186/s12944-023-01875-3)
- Shao, Y. et al. 2023. Phylogenomic analyses provide insights into primate evolution. Science 380(6648), pp. 913-924. (10.1126/science.abn6919)
- Zhang, B. et al. 2023. Comparative genomics reveals the hybrid origin of a macaque group. Science Advances 9(22), article number: eadd3580. (10.1126/sciadv.add3580)
- Bi, X. et al. 2023. Lineage-specific accelerated sequences underlying primate evolution. Science Advances 9(22) (10.1126/sciadv.adc9507)
- Wu, Y. et al. 2023. Identifying high-impact variants and genes in exomes of Ashkenazi Jewish inflammatory bowel disease patients. Nature Communications 14(1), article number: 2256. (10.1038/s41467-023-37849-3)
- Wu, Y. et al. 2023. Identifying shared genetic factors underlying epilepsy and congenital heart disease in Europeans. Human Genetics 142, pp. 275-288. (10.1007/s00439-022-02502-4)
- 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)
- Masson, E. et al. 2023. The PRSS3P2 and TRY7 deletion copy number variant modifies risk for chronic pancreatitis. Pancreatology 23(1), pp. 48-56. (10.1016/j.pan.2022.11.013)
- Li, Y. et al. 2023. Large-scale chromosomal changes lead to genome-level expression alterations, environmental adaptation, and speciation in the Gayal (Bos frontalis). Molecular Biology and Evolution 40(1), article number: msad006. (10.1093/molbev/msad006)
- Wang, Y. et al. 2023. High clinical and genetic similarity between chronic pancreatitis associated with light-to-moderate alcohol consumption and classical alcoholic chronic pancreatitis. Gastro Hep Advances 2(2), pp. 186-195. (10.1016/j.gastha.2022.09.009)
- Zhang, P. et al. 2022. Genome-wide detection of human variants that disrupt intronic branchpoints. Proceedings of the National Academy of Sciences 119(44), article number: e2211194119. (10.1073/pnas.2211194119)
- Li, M. et al. 2022. Functional genomics analysis reveals the evolutionary adaptation and demographic history of pygmy lorises. Proceedings of the National Academy of Sciences 119(40), article number: e2123030119. (10.1073/pnas.2123030119)
- Zou, W., Cooper, D. N., Masson, E., Pu, N., Liao, Z., Férec, C. and Chen, J. 2022. Trypsinogen (PRSS1 and PRSS2) gene dosage correlates with pancreatitis risk across genetic and transgenic studies: a systematic review and re-analysis. Human Genetics 141, pp. 1327-1338. (10.1007/s00439-022-02436-x)
- Xiu, X. et al. 2022. Genetic evidence for a causal relationship between type 2 diabetes and peripheral artery disease in both Europeans and East Asians. BMC Medicine 20(1), article number: 300. (10.1186/s12916-022-02476-0)
- Masson, E. et al. 2022. Expanding ACMG variant classification guidelines into a general framework. Human Genomics 16(1), article number: 31. (10.1186/s40246-022-00407-x)
- Rastogi, R., Stenson, P. D., Cooper, D. N. and Bejerano, G. 2022. X-CAP improves pathogenicity prediction of stopgain variants. Genome Medicine 14(1), article number: 81. (10.1186/s13073-022-01078-y)
- Génin, E., Cooper, D. N., Masson, E., Férec, C. and Chen, J. 2022. NGS mismapping confounds the clinical interpretation of the PRSS1 p.Ala16Val (c.47C>T) variant in chronic pancreatitis. Gut 71, pp. 841-842. (10.1136/gutjnl-2021-324943)
- 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)
- Quinodoz, M. et al. 2022. Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity. American Journal of Human Genetics 109(3), pp. 457-470. (10.1016/j.ajhg.2022.01.006)
- Hamada, S. et al. 2022. Functionally deficient TRPV6 variants contribute to hereditary and familial chronic pancreatitis. Human Mutation 43(2), pp. 228-239. (10.1002/humu.24315)
- Kehrer-Sawatzki, H. and Cooper, D. N. 2022. Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants. Human Genetics 141(2), pp. 177–191. (10.1007/s00439-021-02410-z)
- Chen, J., Cooper, D. N. and Férec, C. 2022. No convincing evidence to support a bimodal age of onset in idiopathic chronic pancreatitis. Clinical Gastroenterology and Hepatology 20(1), pp. 244-245. (10.1016/j.cgh.2021.01.049)
- Mao, X. et al. 2022. The CEL-HYB1 hybrid allele promotes digestive enzyme misfolding and pancreatitis in mice. Cellular and Molecular Gastroenterology and Hepatology 14(1), pp. 55-74. (10.1016/j.jcmgh.2022.03.013)
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- Plieth, J., Rininsland, F., Schlösser, M., Cooper, D. N. and Reiss, J. 1992. Single-strand conformation polymorphism (SSCP) analysis of exon 11 of the CFTR gene reliably detects more than one third of non-ΔF508 mutations in German cystic fibrosis patients. Human Genetics 88(3), pp. 283-287. (10.1007/BF00197260)
- Grundy, C. B. et al. 1991. Recurrent deletion in the human antithrombin III gene. Blood 78(4), pp. 1027-1032.
- Hancock, J. F. et al. 1991. A molecular genetic study of factor XI deficiency. Blood 77(9), pp. 1942-1948.
- Millar, D. S., Green, P. J., Zoll, B., Kakkar, V. V. and Cooper, D. N. 1991. Carrier detection in haemophilia A by direct analysis of factor VIII gene lesions. Human Genetics 87(1), pp. 99-100.
- Cooper, D. N. 1991. The molecular genetic analysis of familial venous thrombosis. Blood Reviews 5(1), pp. 55-70. (10.1016/0268-960X(91)90009-2)
- Cooper, D. N. 1991. The molecular genetics of platelet membrane proteins and their inherited disorders. Platelets 2(2), pp. 59-67. (10.3109/09537109109113690)
- Tuddenham, E. G. D. et al. 1991. Haemophilia A: database of ncleotide substituttions, deletions, insertions and rearrangements of the factor VIII gene. Nucleic Acids Research 19(18), pp. 4821-4833. (10.1093/nar/19.18.4821)
- Cooper, D. N. and Schmidtke, J. 1991. Diagnosis of genetic disease using recombinant DNA. third edition. Human Genetics -Berlin- 87(5), pp. 519-560. (10.1007/BF00209011)
- Millar, D. S., Zoll, B., Martinowitz, U., Kakkar, V. V. and Cooper, D. N. 1991. The molecular genetics of haemophilia A: screening for point mutations in the factor VIII gene using the restriction enzyme TaqI. Human Genetics -Berlin- 87(5), pp. 607-612. (10.1007/BF00209022)
- Reiss, J., Cooper, D. N., Bal, J., Slomski, R., Cutting, G. R. and Krawczak, M. 1991. Discrimination between recurrent mutation and identity by descent: application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene. Human Genetics -Berlin- 87(4), pp. 457-461. (10.1007/BF00197168)
- Cooper, D. N. and Krawczak, M. 1991. Mechanisms of insertional mutagenesis in human genes causing genetic disease. Human Genetics 87(4), pp. 409-415. (10.1007/BF00197158)
- Schmidtke, J. and Cooper, D. N. 1991. A comprehensive list of cloned human DNA sequences--1990 update. Nucleic Acids Research 19(suppl), pp. 2111-2126. (10.1093/nar/19.suppl.2111)
- Krawczak, M. and Cooper, D. N. 1991. Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment. Human Genetics -Berlin- 86(5), pp. 425-441. (10.1007/BF00194629)
- Peinemann, F., Cooper, D. N., Grzeschik, K. -. and Schmidtke, J. 1991. A novel human multi-locus DNA family detected by pJU78 (DF31). Human Genetics -Berlin- 86(4), pp. 394-397. (10.1007/BF00201842)
- Grundy, C., Plendl, H., Grote, W., Zoll, B., Kakkar, V. V. and Cooper, D. N. 1991. A single base-pair deletion in the protein C gene causing recurrent thromboembolism. Thrombosis Research 61(3), pp. 335-340. (10.1016/0049-3848(91)90111-9)
- Grundy, C. B., Melissari, E., Lindo, V., Scully, M. F., Kakkar, V. V. and Cooper, D. N. 1991. Late-onset homozygous protein C deficiency. The Lancet 338(8766), pp. 575-576. (10.1016/0140-6736(91)91144-J)
- Williamson, R. et al. 1991. Report of the DNA committee and catalogues of cloned and mapped genes, markers formatted for PCR and DNA polymorphisms. Cytogenetic and Genome Research 58(3-4), pp. 1190-1211. (10.1159/000133727)
- Wieland, K., Millar, D. S., Grundy, C. B., Mibashan, R. S., Kakkar, V. V. and Cooper, D. N. 1991. Molecular genetic analysis of factor X deficiency: gene deletion and germline mosaicism. Human Genetics 86(3), pp. 273-278. (10.1007/BF00202408)
- Schloesser, M., Slomski, R., Wagner, M., Reiss, J., Berg, L. P., Kakker, V. V. and Cooper, D. N. 1990. Characterization of pathological dystrophin transcripts from the lymphocytes of a muscular-dystrophy carrier. Molecular biology & medicine 7(6), pp. 519-523.
- Jedlicka, P. et al. 1990. Improved carrier detection of haemophilia A using novel RFLPs at the DXS115 (767) locus. Human Genetics 85(3), pp. 315-318.
- Williamson, R. et al. 1990. Report of the DNA committee and catalogues of cloned and mapped genes and DNA polymorphisms (part 1 of 14). Cytogenetic and Genome Research 55(1-4), pp. 457-472. (10.1159/000133027)
- Millar, D. S. et al. 1990. The molecular genetic analysis of haemophilia A; characterization of six partial deletions in the factor VIII gene. Human Genetics 86(2), pp. 219-227. (10.1007/BF00197709)
- Berg, L. et al. 1990. Detection of a novel point mutation causing haemophilia A by PCR/direct sequencing of ectopically-transcribed factor VIII mRNA. Human Genetics 85(6), pp. 655-658. (10.1007/BF00193593)
- Wieland, K., Berg, L., Kakkar, V., Cooper, D. N. and Martinowitz, U. 1990. Molecular genetic analysis of a novel form of haemophilia a characterized by the variable expression of factor VIII. Thrombosis Research 59(5), pp. 871-877. (10.1016/0049-3848(90)90400-7)
- Reiss, J. and Cooper, D. N. 1990. Application of the polymerase chain reaction to the diagnosis of human genetic disease. Human Genetics 85(1), pp. 1-8. (10.1007/BF00276316)
- Cooper, D. N. and Krawczak, M. 1990. The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions. Human Genetics 85(1), pp. 55-74. (10.1007/BF00276326)
- Schmidtke, J. and Cooper, D. N. 1990. A comprehensive list of cloned human DNA sequences. Nucleic Acids Research 18(suppl), pp. 2413-2547. (10.1093/nar/18.suppl.2413)
- Turner, J., Grundy, C. B., Kakkar, V. V. and Cooper, D. N. 1990. Mspl RFLP in the human heparin cofactor II (HCF2) gene. Nucleic Acids Research 18(6), pp. 1664. (10.1093/nar/18.6.1664-a)
- Reiss, J., Krawczak, M., Schloesser, M., Wagner, M. and Cooper, D. N. 1990. The effect of replication errors on the mismatch analysis of PCR-amplified DNA. Nucleic Acids Research 18(4), pp. 973-978. (10.1093/nar/18.4.973)
- Hentemann, M., Reiss, J., Wagner, M. and Cooper, D. N. 1990. Rapid detection of deletions in the Duchenne muscular dystrophy gene by PCR amplification of deletion-prone exon sequences. Human Genetics 84(3), pp. 228-232. (10.1007/BF00200564)
- Reis, A. et al. 1990. Cloning and sequence analysis of the human parathyroid hormone gene region. Human Genetics 84(2), pp. 119-124. (10.1007/BF00208924)
- Pattinson, J. K. et al. 1990. The molecular genetic analysis of hemophilia A: a directed search strategy for the detection of point mutations in the human factor VIII gene. Blood 76(11), pp. 2242-2248.
- Schmidtke, J. and Cooper, D. N. 1989. A comprehensive list of cloned human DNA sequence. Nucleic Acids Research 17(suppl), pp. r173-r281. (10.1093/nar/17.suppl.r173)
- Grundy, C., Chitolie, A., Talbot, S., Bevan, D., Kakkar, V. and Cooper, D. N. 1989. Protein C London 1: recurrent mutation at Arg 169 (CGG—TGG)) in the protein C gene causing thrombosis. Nucleic Acids Research 17(24), pp. 10513. (10.1093/nar/17.24.10513)
- Cooper, D. N. and Schmidtke, J. 1989. Diagnosis of genetic disease using recombinant DNA. Second edition. Human Genetics 83(4), pp. 307-334. (10.1007/BF00291376)
- Cooper, D. N. and Krawczak, M. 1989. Cytosine methylation and the fate of CpG dinucleotides in vertebrate genomes. Human Genetics 83(2), pp. 181-188. (10.1007/BF00286715)
- Cooper, D. N. 1989. Genetic risk in medicine today. The Geneva Papers On Risk And Insurance 2(133), pp. 9-17.
- Schmidtke, J. and Cooper, D. N. 1988. A comprehensive list of cloned human DNA sequences. Nucleic Acids Research 16(suppl), pp. r403-r480. (10.1093/nar/16.suppl.r403)
- Cooper, D. N. and Clayton, J. F. 1988. DNA polymorphism and the study of disease associations. Human Genetics 78(4), pp. 299-312. (10.1007/BF00291724)
- Cooper, D. N. and Youssoufian, H. 1988. The CpG dinucleotide and human genetic disease. Human Genetics 78(2), pp. 151-155. (10.1007/BF00278187)
- Cooper, D. N. and Hall, C. 1988. Down's syndrome and the molecular biology of chromosome 21. Progress in Neurobiology 30(6), pp. 507-530. (10.1016/0301-0082(88)90033-0)
- Cooper, D. N. and Mibashan, . 1988. Carrier testing in the haemophilias. Haemophilia Society Bulletin, pp. 4-6.
- Cooper, D. N. et al. 1987. Regional localization and characterization of a DNA segment on the long arm of chromosome 21. Human Genetics 75(2), pp. 129-135. (10.1007/BF00591073)
- Schmidtke, J. and Cooper, D. N. 1987. A comprehensive list of cloned human DNA sequences. Nucleic Acids Research 15(suppl), pp. r1-r51. (10.1093/nar/15.suppl.r1)
- Cooper, D. N. and Schmidtke, J. 1987. Diagnosis of genetic disease using recombinant DNA. Supplement. Human Genetics 77(1), pp. 66-75. (10.1007/BF00284717)
- Cooper, D. N. and Schmidtke, J. 1987. Human gene cloning and disease analysis. The Lancet 329(8527), pp. 273-273. (10.1016/S0140-6736(87)90090-0)
- Goate, A. M., Cooper, D. N., Hall, C., Leung, T. K. C., Solomon, E. and Lim, L. 1987. Localization of a human heat-shock HSP 70 gene sequence to chromosome 6 and detection of two other loci by somatic-cell hybrid and restriction fragment length polymorphism analysis. Human Genetics 75(2), pp. 123-128. (10.1007/BF00591072)
- Cooper, D. N., Jay, M., Bhattacharya, S. and Jay, B. 1987. Molecular genetic approaches to the analysis of human ophthalmic disease. Eye 1(6), pp. 699-721. (10.1038/eye.1987.114)
- Gerber-Huber, S. et al. 1987. Precursor-product relationship between vitellogenin and the yolk proteins as derived from the complete sequence of aXenopusvitellogenin gene. Nucleic Acids Research 15(12), pp. 4737-4760. (10.1093/nar/15.12.4737)
- Cooper, D. N., Gerber-Huber, S., Nardelli, D., Schubiger, J. and Wahli, W. 1987. The distribution of the dinucleotide CpG and cytosine methylation in the vitellogenin gene family. Journal of Molecular Evolution 25(2), pp. 107-115. (10.1007/BF02101752)
- Hall, C., Lowndes, C. M., Leung, T. K., Cooper, D. N., Goate, A. M. and Lim, L. 1987. Expression and developmental regulation of 2 unique mRNAs specific to brain membrane-bound polyribosomes. Biochemical Journal -London- 244(2), pp. 359-366.
- Cooper, D. N. 1987. Can you buy insurance for your genes?. New Scientist 115(1569), pp. 51-51.
- Cooper, D. 1987. Gene expression in brain. FEBS Letters, pp. 201-202.
- Cooper, D. and Schmidtke, J. 1986. Diagnosis of genetic disease using recombinant DNA. Human Genetics 73(1), pp. 1-11. (10.1007/BF00292654)
- Schmidtke, J., Krawczak, M. and Cooper, D. N. 1986. Human gene cloning: the storm before the lull?. Nature 322(6075), pp. 119-119. (10.1038/322119a0)
- Willichowski, E., Cooper, D. N. and Schmidtke, J. 1986. Genetisch bedingte Erkrankungen: Analyse und Diagnose mittles rekombinanter DNA-Technologie. Diagnose und Labor 36(4), pp. 141-157.
- Cooper, D. N. 1986. Molecular genetic approaches to the analysis of inherited neurological disease. Annals of Clinical Research 18(5-6), pp. 264-270.
- Bartels, I., Grzeschik, K. H., Cooper, D. N. and Schmidtke, J. 1986. Regional mapping of six cloned DNA sequences on human chromosome 7. American Journal of Human Genetics 38(3), pp. 280-287.
- Cooper, D. N. 1986. The application of recombinant DNA methodology to the diagnosis of inherited disease. Contributions to Gynecology and Obstetrics 15, pp. 90-103.
- Cooper, D. N., Smith, B. A., Cooke, H. J., Niemann, S. and Schmidtke, J. 1985. An estimate of unique DNA sequence heterozygosity in the human genome. Human Genetics 69(3), pp. 201-205. (10.1007/BF00293024)
- Cooper, D. N. and Gerber-Huber, S. 1985. DNA methylation and CpG suppression. Cell Differentiation 17(3), pp. 199-205. (10.1016/0045-6039(85)90488-9)
- Zoll, B. et al. 1985. Evidence against close linkage of the loci for fraXq of Martin-Bell syndrome and for factor IX. Human Genetics 71(2), pp. 122-126. (10.1007/BF00283366)
- Cooper, D. N. 1985. Murine retroviral vectors and Human gene therapy. Science 228(4700), pp. 650. (10.1126/science.228.4700.650-a)
- Schmidtke, J. and Cooper, D. N. 1984. A list of cloned human DNA sequences-supplement. Human Genetics 67(1), pp. 111-114. (10.1007/BF00270569)
- Cooper, D. N. and Schmidtke, J. 1984. DNA restriction fragment length polymorphisms and heterozygosity in the human genome. Human Genetics 66(1), pp. 1-16. (10.1007/BF00275182)
- Schmidtke, J., Pape, B., Krengel, U., Langenbeck, U., Cooper, D. N., Breyel, E. and Mayer, H. 1984. Restriction fragment length polymorphisms at the human parathyroid hormone gene locus. Human Genetics 67(4), pp. 428-431. (10.1007/BF00291404)
- Schmidtke, J. and Cooper, D. N. 1983. A list of cloned human DNA sequences. Human Genetics 65(1), pp. 19-26. (10.1007/BF00285023)
- Bower, D. J., Errington, L. H., Cooper, D. N., Morris, S. and Clayton, R. M. 1983. Chicken lens δ-crystallin gene expression and methylation in several non-lens tissues. Nucleic Acids Research 11(9), pp. 2513-2527. (10.1093/nar/11.9.2513)
- Cooper, D. N. 1983. Eukaryotic DNA methylation. Human Genetics 64(4), pp. 315-333. (10.1007/BF00292363)
- Errington, L. H., Cooper, D. N. and Clayton, R. M. 1983. The pattern of DNA methylation in the δ-Crystallin genes in transdifferentiating neural retina cultures. Differentiation 24(1-3), pp. 33-38. (10.1111/j.1432-0436.1983.tb01299.x)
- Cooper, D. N., Taggart, M. H. and Bird, A. P. 1983. Unmethlated domains in vertebrate DNA. Nucleic Acids Research 11(3), pp. 647-658. (10.1093/nar/11.3.647)
- Cooper, D. N., Errington, L. H. and Clayton, R. M. 1983. Variation in the DNA methylation pattern of expressed and nonexpressed genes in chicken. DNA 2(2), pp. 131-140. (10.1089/dna.1983.2.131)
Book sections
- Cooper, D. N. et al. 2018. The Genomic Medicine Alliance: A global effort to facilitate the introduction of genomics into healthcare in developing nations. In: Lopez-Correa, C. and Patrinos, G. eds. Genomic Medicine in Emerging Economies: Genomics for Every Nation. Translational and Applied Genomics Elsevier, pp. 173-188., (10.1016/B978-0-12-811531-2.00008-4)
- Bacolla, A., Cooper, D. N., Vasquez, K. M. and Tainer, J. A. 2018. Non-B DNA structure and mutations causing human genetic disease. In: eLS. John Wiley & Sons, (10.1002/9780470015902.a0022657.pub2)
- Zou, W., Cooper, D. N., Liao, Z., Chen, J. and Li, Z. 2017. A short history of research into chronic pancreatitis. In: Li, Z. et al. eds. Chronic Pancreatitis. Singapore: Springer, pp. 1-15., (10.1007/978-981-10-4515-8_1)
- Liao, Z., Li, Z., Cooper, D. N., Férec, C. and Chen, J. 2017. Pathogenetics of chronic pancreatitis. In: Li, Z. et al. eds. Chronic Pancreatitis. Singapore: Springer, pp. 63-77., (10.1007/978-981-10-4515-8_6)
- Chen, J., Cooper, D. N. and Férec, C. 2013. Trypsinogen genes: insights into molecular evolution from the study of pathogenic mutations. In: eLS. Wiley-Blackwell, (10.1002/9780470015902.a0006140.pub3)
- Ng, H. K., Ku, C., Cooper, D. N. and Soong, R. 2013. Clinical relevance of miRNAs in cancer. In: Roukos, D. H. ed. Next-Generation Sequencing & Molecular Diagnostics. Future Medicine Ltd, pp. 42-62., (10.2217/ebo.12.131)
- Ku, C. and Cooper, D. N. 2013. Next-generation sequencing in cancer research & diagnostics. In: Roukos, D. H. ed. Next-Generation Sequencing & Molecular Diagnostics. Future Medicine Ltd, pp. 20-40., (10.2217/ebo.12.46)
- Antonarakis, S. E. and Cooper, D. N. 2013. Human gene mutation in inherited disease: Molecular mechanisms and clinical consequences. In: Rimoin, D. L., Pyeritz, R. E. and Korf, B. eds. Emery and Rimoin's Principles and Practice of Medical Genetics. Elsevier, pp. 1-48., (10.1016/B978-0-12-383834-6.00007-0)
- Ku, C., Pawitan, Y., Wu, M., Roukos, D. H. and Cooper, D. 2013. The evolution of high-throughput sequencing technologies: from Sanger to single-molecule sequencing. In: Wu, W. and Choudhry, H. eds. Next generation sequencing in cancer research: decoding the cancer genome., Vol. 1. Springer, pp. 1-30., (10.1007/978-1-4614-7645-0_1)
- Upadhyaya, M. and Cooper, D. N. 2012. Somatic copy number alterations: Gene and protein expression correlates in NF1-associated malignant peripheral nerve sheath tumors. In: Upadhyaya, M. and Cooper, D. N. eds. Neurofibromatosis Type 1: Molecular and Cellular Biology. Springer, pp. 405-428., (10.1007/978-3-642-32864-0_27)
- Cooper, D. N. and Upadhyaya, M. 2012. The germline mutational spectrum in neurofibromatosis type 1 and genotype-phenotype correlations. In: Upadhyaya, M. and Cooper, D. N. eds. Neurofibromatosis Type 1: Molecular and Cellular Biology. Springer, pp. 115-134., (10.1007/978-3-642-32864-0_10)
- Filocamo, M., Cooper, D. N. and Di Rocco, M. 2011. Mucopolysaccharide storage disorders. In: Encclopedia of Life Sciences (ELS). Wiley-Blackwell, (10.1002/9780470015902.a0006095)
- Bacolla, A., Cooper, D. N. and Vasquez, K. M. 2010. Non-B DNA structure and mutations causing human genetic disease. In: eLS. John Wiley & Sons, (10.1002/9780470015902.a0022657)
- Pagon, R. A. et al. 2010. Databases in human and medical genetics. In: Speicher, M. R., Antonarakis, S. E. and Motulsky, A. G. eds. Vogel and Motulsky's Human Genetics: Problems and Approaches. 4th ed.. London: Springer, pp. 941-961.
- Antonarakis, S. E. and Cooper, D. N. 2010. Human gene mutation: mechanisms and consequences. In: Speicher, M. R., Antonarakis, S. E. and Motulsky, A. G. eds. Vogel and Motulsky's human genetics: problems and approaches. 4th ed.. London: Springer, pp. 319-364.
- Chen, J., Cooper, D. N., Chuzhanova, N., Férec, C. and Patrinos, G. P. 2009. Gene conversion in evolution and disease. In: Encyclopedia of Life Sciences. Chichester: John Wiley, (10.1002/9780470015902.a0005100.pub2)
- Chen, J., Cooper, D. N. and Férec, C. 2008. Pathological missense mutations provide new insights into the evolution of trypsinogen genes. In: eLS. Wiley-Blackwell, (10.1002/9780470015902.a0006140.pub2)
- Kehrer-Sawatzki, H. and Cooper, D. N. 2008. Chromosomal rearrangements in the human and chimpanzee lineages. In: Cooper, D. N. and Kehrer-Sawatzki, H. eds. Handbook of Human Molecular Evolution. Chichester: John Wiley, pp. 1328-1334.
- Kehrer-Sawatzki, H. and Cooper, D. N. 2008. Divergence between the human and chimpanzee genomes and its impact on protein and transcriptome evolution. In: Cooper, D. N. and Kehrer-Sawatzki, H. eds. Handbook of human molecular evolution. Chichester: John Wiley, pp. 605-616.
- Khaitovich, P., Kehrer-Sawatzko, H. and Cooper, D. N. 2008. Human and chimpanzee transcriptomes: comparative evolution. In: Cooper, D. N. and Kehrer-Sawatzki, H. eds. Handbook of human molecular evolution. Chichester: John Wiley, pp. 1242-1249.
- Cooper, D. N. 2008. Insertion and deletion of exons during human gene evolution. In: Cooper, D. N. and Kehrer-Sawatzki, H. eds. Handbook of human molecular evolution. Chichester: John Wiley, pp. 960-966.
- Kehrer-Sawatzki, H. and Cooper, D. N. 2008. Sequencing the human genome: novel insights into its structure and function. In: Cooper, D. N. and Kehrer-Sawatzki, H. eds. Handbook of human molecular evolution. Chichester: John Wiley, pp. 580-588.
- Cooper, D. N. and Kehrer-Sawatzki, H. 2008. The chimpanzee genome project. In: Cooper, D. N. and Kehrer-Sawatzki, H. eds. Handbook of Human Molecular Evolution. Chichester: John Wiley, pp. 1486-1500.
- Gibbs, R. A., Worley, K. C., Kehrer-Sawatzki, H. and Cooper, D. N. 2008. The sequencing of the rhesus macaque genome and its comparison with the genome sequences of human and chimpanzee. In: Cooper, D. N. and Kehrer-Sawatzki, H. eds. Handbook of human molecular evolution. Chichester: John Wiley, pp. 1473-1485.
- Chen, J., Cooper, D. N. and Férec, C. 2008. Pathological missense mutations provide new insights into the evolution of trypsinogen genes. In: Cooper, D. N. and Kehrer-Sawatzki, H. eds. Handbook of human molecular evolution. Chichester: John Wiley, pp. 1532-1539.
- Cooper, D. N. 2007. Insertion and deletion of exons during human gene evolution. In: eLS. Wiley-Blackwell, (10.1002/9780470015902.a0005088.pub2)
- Antonarakis, S. E. and Cooper, D. N. 2007. Mutations in human genetic disease: nature and consequences. In: Rimoin, D. L. et al. eds. Emery and Rimoin's Principles and Practice of Medical Genetics (5th ed.). Edinburgh: Churchill Livingstone, pp. 101-128.
- Cooper, D. N. 2006. Primate evolution: gene loss and inactivation. In: eLS. Wiley-Blackwell, (10.1038/npg.els.0005121)
- Cooper, D. N. 2006. Pseudogenes and their evolution. In: eLS. Wiley-Blackwell, (10.1038/npg.els.0005118)
- Cooper, D. N. 2006. Gross insertions and mcroinsertions in evolution. In: eLS. Wiley-Blackwell, (10.1038/npg.els.0005095)
- Antonarakis, S. E. and Cooper, D. N. 2006. Mutations in human genetic disease. In: eLS. Wiley-Blackwell, (10.1038/npg.els.0005471)
- Upadhyaya, M. and Cooper, D. N. 2006. Neurofibromatosis type 1 (NF1). In: Ganten, D. and Ruckpaul, K. eds. Encyclopedic Reference of Genomics and Proteomics in Molecular Medicine. Berlin: Springer, pp. 1271-1275.
- Cooper, D. N. and Cockcroft, J. R. 2006. Polymorphisms in cardiovascular medicine: the role of genetic variants in disease diagnosis and drug response. In: Hall, I. P. and Pirmohamed, M. eds. Pharmacogenetics. New York: Taylor & Francis, pp. 209-242.
- Upadhyaya, M. and Cooper, D. N. 2006. Neurofibromatosis Type 1 (NF1), genetics. In: Ganten, D. et al. eds. Encyclopedic Reference of Genomics and Proteomics in Molecular Medicine. Springer, pp. 1271-1275., (10.1007/3-540-29623-9_1190)
- Berg, L. and Cooper, D. 2005. Genes: types. In: eLS. Wiley-Blackwell, (10.1038/npg.els.0005016)
- Upadhyaya, M., Thompson, P., Han, S. and Cooper, D. N. 2004. Neurofibromatosis type 1 (NF1): a common familial cancer syndrome. In: Elles, R. and Mountford, R. eds. Molecular Diagnosis of Genetic Diseases. Methods in Molecular Medicine Vol. 92. Totowa, NJ: Humana Press, pp. 285-310., (10.1385/1-59259-432-8:285)
- Cooper, D. N. and Upadhyaya, M. 2004. Introduction and overview of FSHD. In: Upadhyaya, M. and Cooper, D. N. eds. Facioscapulohumeral Muscular Dystrophy: Clinical Medicine and Molecular Cell Biology. Oxford: Taylor & Francis, pp. 1-16.
- Chuzhanova, N. A. and Cooper, D. N. 2004. Using change in local DNA sequence complexity as a pointer to the mechanism of mutagenesis in inherited disease. In: Kolchanov, N. and Hofestaedt, R. eds. Bioinformatics of Genome Regulation and Structure. Boston: Kluwer Academic, pp. 13-20.
- Upadhyaya, M. and Cooper, D. N. 2004. Facioscapulohumeral muscular dystrophy. In: Fuchs, J. and Podda, M. eds. Encyclopedia of Medical Genomics and Proteomics. New York: Marcel Dekker, pp. 419-425., (10.3109/9780203997352.086)
- Cooper, D. N. 2003. Exons: insertion and deletion during evolution. In: Cooper, D. N. ed. Encyclopedia of the Human Genome., Vol. 2. London: Nature Publishing Group, pp. 394-398.
- Cooper, D. N. 2003. Gene deletions in evolution. In: Cooper, D. N. ed. Encyclopedia of the Human Genome., Vol. 2. London: Nature Publishing Group, pp. 613-617.
- Berg, L. and Cooper, D. N. 2003. Genes: types. In: Cooper, D. N. ed. Encyclopedia of the Human Genome., Vol. 2. London: Nature Publishing Group, pp. 684-693.
- Cooper, D. N. 2003. Gross insertions and microinsertions in evolution. In: Cooper, D. N. ed. Encyclopedia of the Human Genome., Vol. 3. London: Nature Publishing Group, pp. 138-142.
- Antonarakis, S. E. and Cooper, D. N. 2003. Mutations in human genetic disease: nature and consequences. In: Cooper, D. N. ed. Encyclopedia of the Human Genome. London: Nature Publishing Group, pp. 227-253.
- Cooper, D. N. 2003. Primate evolution: gene loss and inactivation. In: Cooper, D. N. ed. Encyclopedia of the Human Genome. London: Nature Publishing Group, pp. 700-704.
- Cooper, D. N. 2003. Pseudogenes and their evolution. In: Cooper, D. N. ed. Encyclopedia of the Human Genome. London: Nature Publishing Group, pp. 900-909.
- Upadhyaya, M., Osborn, M. and Cooper, D. N. 2003. Detection of NF1 mutations utilizing the protein truncation test (PTT). In: Potter, N. T. ed. Neurogenetics., Vol. 217. Methods in Molecular Biology Humana Press, pp. 315-328., (10.1385/1-59259-330-5:315)
- Antonarakis, S. E., Cooper, D. N. and Krawczak, M. 2002. Mutations in human disease: nature and consequences. In: Rimoin, D. L. et al. eds. Emery & Rimoin's Principles and Practice of Medical Genetics (4th ed.). Edinburgh: Churchill Livingstone, pp. 83-103.
- Cooper, D. N., Antonarakis, S. E. and Krawczak, M. 2002. The nature and mechanisms of human gene mutation. In: Vogelstein, B. and Kinzler, K. W. eds. The Genetic Basis of Human Cancer (2nd ed.). New York: McGraw-Hill, pp. 7-41.
- Upadhyaya, M. and Cooper, D. N. 2001. The molecular genetics of facioscapulohumeral muscular dystrophy. In: Emery, A. E. H. ed. The Muscular Dystrophies. Oxford: Oxford University Press, pp. 137-172.
- Antonarakis, S. E., Krawczak, M. and Cooper, D. N. 2001. The nature and mechanisms of human gene mutation. In: Scriver, C. R. et al. eds. The Metabolic and Molecular Bases of Inherited Disease 8th ed.. New York: McGraw-Hill, pp. 343-377., (10.1036/ommbid.20)
- 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.
- Upadhyaya, M. and Cooper, D. N. 1998. The mutational spectrum in neurofibromatosis type 1 and its underlying mechanisms. In: Neurofibromatosis type 1: from genotype to phenotype. Human Molecular Genetics Oxford: BIOS, pp. 65-88.
- Cooper, D. N., Krawczak, M. and Antonarakis, S. E. 1998. The nature and mechanisms of human gene mutation. In: Vogelstein, B. and Kinzler, K. W. eds. The Genetic Basis of Human Cancer. New York: McGraw-Hill, pp. 65-94.
- Krawczak, M. and Cooper, D. N. 1996. Mutational processes in pathology and evolution. In: Jackson, M. S., Dover, G. and Strachan, T. eds. Human genome evolution.. Human Molecular Genetics Oxford: BIOS, pp. 1-33.
- Cooper, D. N. 1995. Mapping the human genome. In: Farzaneh, F. and Cooper, D. N. eds. The functional analysis of the human genome. Human Molecular Genetics Oxford: BIOS, pp. 43-68.
- Cooper, D. N. 1995. Structure and function in the human genome. In: Farzaneh, F. and Cooper, D. N. eds. The functional analysis of the human genome. Human Molecular Genetics Oxford: BIOS, pp. 1-41.
- Cooper, D. N., Krawczak, M. and Antonarakis, S. E. 1995. The nature and mechanisms of human gene mutation. In: Scriver, C. R. et al. eds. The Metabolic and Molecular Bases of Inherited Disease., Vol. 1. New York: McGraw-Hill, pp. 259-291.
- Berg, L. P., Scopes, D. A., Kakkar, V. V. and Cooper, D. N. 1995. Analysis of promoter mutations causing human genetic disease. In: Adolph, K. W. ed. Methods in molecular genetics. Academic Press, pp. 261-277.
- Schmidtke, K. and Cooper, D. N. 1993. Diagnosis of human genetic disease using recombinant DNA techniques: an overview. In: Verma, R. S. ed. Morbid anatomy of the genome. Advances in Genome Biology Vol. 2. Greenwich, CN: JAI Press, pp. 1-39.
- Cooper, D. N. and Farzaneh, F. 1993. Molecular genetic approaches to the analysis and diagnosis of human inherited disease. In: Chervenak, F. A., Isaacson, G. and Campbell, S. eds. Ultrasound in obstetrics and gynaecology., Vol. 1. Boston: Little, Brown & Co, pp. 795-798.
- Cooper, D. N. and Reitsma, P. H. 1993. The molecular genetics of protein C deficiency. In: Polli, E. E. ed. The molecular bases of human diseases. Amsterdam: Excerpta Medica, Elsevier, pp. 131-138.
- Cooper, D. N. et al. 1991. Application of PCR to the detection and analysis of point mutations in the human factor VIII gene. In: Rolfs, A., Schumacer, H. C. and Marx, P. eds. PCR topics: usage of polymerase chain reaction in genetic and infectious diseases. Berlin: Springer Verlag, pp. 23-31.
- Beaudet, A. L., Scriver, C. R., Sly, W. S., Valle, D., Cooper, D. N., McKusick, V. A. and Schmidtke, J. 1989. Genetics and biochemistry of variant human phenotypes. In: Scriver, C. R. et al. eds. The metabolic basis of inherited disease (6th ed.). New York: McGraw-Hill, pp. 3-168.
- Cooper, D. N. and Schmidtke, J. 1986. Restriction fragment length polymorphisms in the human genome. In: Roberts, D. F. and Stefano, G. F. eds. Genetic variation and its maintenance. Cambridge: Cambridge University Press, pp. 53-75.
Books
- Upadhyaya, M. and Cooper, D. N. eds. 2013. Neurofibromatosis Type 1: molecular and cellular biology. Heidelberg: Springer Verlag. (10.1007/978-3-642-32864-0)
- Cooper, D. N. and Chen, J. eds. 2012. Mutations in human genetic disease. Shanghai: InTech.
- Kehrer-Sawatzki, H. and Cooper, D. N. eds. 2009. Copy number variation and disease. London: Karger.
- Zheng, Y. et al. eds. 2009. Encyclopedia of life sciences. John Wiley.
- Cooper, D. N. and Kehrer-Sawatzki, H. eds. 2008. Handbook of human molecular evolution. Chichester: John Wiley.
- Cooper, D. N. 2005. The molecular genetics of lung cancer. Heidelberg: Springer Verlag. (10.1007/b138362)
- Cooper, D. N. and Upadhyaya, M. eds. 2004. Fascioscapulohumeral muscular dystrophy: clinical medicine and molecular cell biology. Oxford: Taylor & Francis.
- Cooper, D. N. ed. 2003. Nature encyclopedia of the human genome. London: Nature Publishing Group.
- Cooper, D. N. 1999. Human gene evolution. Oxford: BIOS Scientific.
- Upadhyaya, M. and Cooper, D. N. eds. 1998. Neurofibromatosis Type 1: from genotype to phenotype. Oxford: BIOS Scientific.
- Cooper, D. N. and Krawczak, M. 1997. Venous thrombosis: from genes to clinical medicine. Garland Science.
- Lemoine, N. and Cooper, D. N. eds. 1996. Gene therapy. Oxford: BIOS Scientific.
- Farzaneh, F. and Cooper, D. N. eds. 1995. The functional analysis of the human genome. Oxford: BIOS Scientific.
- Tuddenham, E. G. D. and Cooper, D. N. 1994. The molecular genetics of haemostasis and its inherited disorders. Oxford Monographs on Medical Genetics. Oxford: Oxford University Press.
- Cooper, D. N. and Krawczak, M. 1993. Human gene mutation. Oxford: BIOS Scientific.
Conferences
- Rogers, M. F., Campbell, C., Shihab, H. A., Gaunt, T. R., Mort, M. and Cooper, D. N. 2015. Sequential data selection for predicting the pathogenic effects of sequence variation. Presented at: 2015 IEEE International Conference on Bioinformatics and Biomedicine (BIBM), Washington DC, USA, 9-12 November 2015Bioinformatics and Biomedicine (BIBM), 2015 IEEE International Conference on. IEEE pp. 639-644., (10.1109/BIBM.2015.7359759)
- Schmidtke, J. and Cooper, D. N. 1989. Recombinant DNA technology in the diagnosis of human inherited disease. Presented at: Thirteenth International Congress of Clinical Chemistry, and the Seventh European Congress of Clinical Chemistry, 28 June- 3 July 1987, The Hague, The Netherlands Presented at den Boer, N. C. et al. eds.Clinical chemistry: An Overview: Proceedings of the Thirteenth International Congress of Clinical Chemistry, and the Seventh European Congress of Clinical Chemistry, held June 28-July 3, 1987, in The Hague, The Netherlands. New York: Plenum Publishing pp. 45-54.
- Cooper, D. N., Zoll, B., Moesseler, J. and Schmidtke, J. 1987. Konduktorinnennachweis und Praenataldiagnose bei Haemophilie A und B mit genetechnologischen Untersuchungsmethoden. Presented at: 16 Hämophilie-Symposion, Hamburg, Germany, 1985 Presented at Landbeck, G. and Marx, R. eds.Proceedings of 16. Hämophilie-Symposion, Hamburg, Germany, 1985. Hämophilie-Symposium Berlin: Springer pp. 286-293.
- Cooper, D. N. 1986. The application of recombinant DNA methodology to the diagnosis of inherited disease. Presented at: International Symposium on First Trimester Fetal Diagnosis, Lausanne, Switzerland, 1-2 November 1985 Presented at Pescia, G. and Nguyen The, H. eds.Chorionic Villi Sampling: Proceedings of International Symposium on First Trimester Fetal Diagnosis, Lausanne, Switzerland, 1-2 November 1985. Contributions to gynaecology and obstetrics Vol. 15. Basel: Karger pp. 90-103.
Websites
- Birgmeier, J. et al. 2018. AVADA improves automated genetic variant database construction directly from full-text literature. [Online]. BioRxiv. (10.1101/461269) Available at: http://dx.doi.org/10.1101/461269
Research
Researching the Nature, Mechanisms and Consequences of Human Gene Mutation
Mutation is a fundamental process in biology
Mutation of the DNA molecule is an absolutely fundamental process in biology. It occurs in all known species and serves to generate genetic variation between individuals, thereby providing the fuel for molecular evolution. In higher organisms, mutation is however also responsible for causing genetic disease. Indeed, mutations in human gene pathology and evolution can be seen as representing two sides of the same coin in that the same mutational mechanisms that have frequently been implicated in disease also appear to have been involved in potentiating evolutionary change. Consistent with their having underlying causal mechanisms in common, a remarkable parallelism often exists between the DNA sequence changes that have arisen in paralogous and orthologous gene sequences over evolutionary time and those much more recent sequence changes associated with inherited disease and cancer. It comes as no surprise to learn that this parallelism also extends to the DNA sequence changes responsible for inter-individual (polymorphic) variation. The explanation is that, although their contexts are quite different, many of these diverse types of mutation are endogenous in origin and have often arisen as a consequence of the inherent mutability of specific DNA sequences or DNA sequence motifs.
Mutation as a continuum of genetic change
Since different types of mutation in different contexts often share multiple unifying characteristics, they should be viewed as contributing to a continuum of genetic change that ultimately links molecular evolution and population genetics with molecular medicine. The consequences of each type of mutational event are however quite different in each context and it is these consequences that serve to determine whether the mutational changes in question come to clinical attention, are maintained within populations, or are fixed as species-specific differences.
Mutational spectra and what we can learn from them
The study of naturally occurring mutations is vital for understanding the genetic basis of human pathology, particularly the relationship between genotype and phenotype, and that between protein structure and function. As mentioned above, human gene mutation has turned out to be a highly sequence-specific process, irrespective of the type of lesion involved (Cooper et al. 2011). This has important implications, not only for the nature and prevalence of human genetic disease, but also for diagnostic practice in molecular medicine. Certain DNA sequences have been found to be hypermutable (mutation 'hotspots'), thereby providing important clues as to the nature of the endogenous mechanisms underlying different types of human gene lesion, but also emphasizing the non-uniform nature of mutagenesis (Cooper et al. 2011). Hence, meta-analyses of the various different types of human gene mutation promise to facilitate the elucidation of the underlying mutational mechanisms and allow an assessment of the role of the local DNA sequence environment in promoting mutagenesis.
Most human germline mutations are of endogenous origin
Most, if not all, germline mutations in human genes are thought to represent errors of endogenous error-prone processes involving either chemical, physical or enzymatic mechanisms (Cooper et al. 2011). Since the efficiency of these processes is DNA-sequence dependent, it is not surprising that both the spectrum and spatial distribution of mutations exhibit biases that reflect the influence of the local DNA sequence environment upon germline mutability. This influence is at its most dramatic for the 'CpG mutation hotspot', characterized by high-frequency C>T and G>A transitions arising from the propensity of methylated CpG dinucleotides to deaminate to yield either TpG or CpA. The influence of DNA sequence context on mutability is however also important for other types of pathological mutation e.g. non-CpG-located single base-pair substitutions, as evidenced by the finding that nucleotide substitution rates differ, and are a function of the nature and sequence of the 5' and 3' flanking oligonucleotides. Further, we and others have shown that DNA sequence repetitivity, manifesting itself in the presence of direct or inverted repeats or 'symmetric elements', predisposes DNA to both deletion- and insertion-type mutational events.
Using the Human Gene Mutation Database (HGMD) as a research tool
Many of the above insights into the in vivo mechanisms underlying human germline mutagenesis have been obtained from the meta-analysis of mutation data logged in HGMD (http://www.hgmd.org/ ). However, it should be appreciated that a major difficulty in utilizing disease-associated mutations as a research tool arises from the fact that such lesions have to pass through several stages of selection before coming to clinical attention. For example, most single base-pair substitutions in HGMD have either caused an amino acid replacement or introduced a termination codon. The changes ensuing at the RNA/protein level must have been severe enough to give rise to a disease phenotype but, at the same time, cannot have been subject to negative pre-clinical selection. This implies that the spectrum of single base-pair substitutions, as well as that of other types of mutational lesion included in HGMD, is heavily biased by the phenotypic consequences of the mutations. In addition, the retrospective nature of the HGMD data allows mutation rates to be estimated only in relative terms. We have developed a series of mathematical methods that seek to allow for, and correct, these biases.
Why study human gene mutation?
The sequencing of the human genome is now essentially complete and its functional annotation well underway. However, in relation to understanding the etiology of inherited disease and disease predisposition, full exploitation of the mutation data now emerging from multiple genome sequencing projects is likely to be hampered by our ignorance of the basic processes underlying inter-individual, inter-population and inter-species genetic diversity (Cooper et al. 2011). At the population level, such an understanding is seen as essential for any meaningful interpretation of the prevalence/incidence patterns observed for diseases with a genetic basis. Within families, it is a prerequisite for being able to explain how inter-individual variation arises and how variable phenotypic expression can be associated with identical gene lesions. Thus, for human genome sequence data to be useful in the context of molecular medicine, they must eventually be related to the DNA sequence variants responsible for human genetic disease (Cooper et al. 2011). To this end, the meta-analysis of pathological germline mutations in human genes should facilitate:
- the assessment of the spectrum of known genetic variation underlying human inherited disease,
- the identification of factors determining the propensity of specific DNA sequences to undergo germline (and/or somatic) mutation,
- the optimization of mutational screening strategies,
- improvements in our ability to predict the clinical phenotype from knowledge of the mutant genotype,
- the identification of disease states that exhibit incomplete mutational spectra, prompting the search for, and detection of, novel gene lesions associated with different clinical phenotypes,
- extrapolation toward the genetic basis of other, more complex traits and diseases,
- improvements in our understanding of structure-function relationships at the protein level,
- meaningful comparison between the mechanisms of mutagenesis underlying inherited disease and somatic disease (cancer),
- studies of human genetic diseases in their evolutionary context.
Potential Value of Research
We hope that the results of our studies will:
- Lead to a better understanding of the mutational mechanisms underlying specific types of gene lesion, thereby providing meaningful explanations for the mutational spectra associated with particular diseases and/or genes.
- Help to optimize mutation search strategies in molecular diagnostic medicine and serve as a guide to the potential location of hypermutable sites in genes whose mutational spectra are incompletely known.
- Allow general rules of mutagenesis to be drawn up that will facilitate studies of gene and genome evolution.
- Lead to improvements in the accuracy of molecular phylogenetic studies by making allowance for DNA sequence-dependent mutation rates.
- Lead to the development of further research avenues since new ideas arising will have to be tested not only by statistical techniques but ultimately also by biochemical studies.
References
Cooper DN, Krawczak M, Polychronakos C, Tyler-Smith C, Kehrer-Sawatzki H. (2013) Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease. Hum. Genet. 132: 1077-1130.
Cooper DN, Bacolla A, Férec C, Vasquez KM, Kehrer-Sawatzki H, Chen JM. (2011) On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease. Hum Mutat. 32:1075-99
Cooper DN, Chen JM, Ball EV, Howells K, Mort M, Phillips AD, Chuzhanova N, Krawczak M, Kehrer-Sawatzki H, Stenson PD. (2010) Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics. Hum. Mutat. 31:631-655.
Teaching
I make an ongoing contribution to student teaching at an international level by editing the Genetics & Disease section of the online Encyclopedia of Life Sciences (eLS) published by John Wiley & Sons Ltd [http://www.els.net], the largest educational work ever produced in the biosciences. eLS currently contains in excess of 6,000 specially commissioned and peer-reviewed articles spanning the entire spectrum of the life sciences.
Biography
Professor Cooper obtained his BSc in Biological Sciences (Hons. Zoology; first class) 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.
Career overview
November 1995: Appointed Professor of Human Molecular Genetics, Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK
April 1995: Promoted to Reader in Molecular Genetics, Thrombosis Research Institute, National Heart & Lung Institute, Imperial College London, Manresa Road, London SW3 6LR, UK.
April 1989-March 1995: Appointed Senior Lecturer (non-clinical) in Molecular Genetics, Thrombosis Research Institute, National Heart & Lung Institute, Imperial College London, Manresa Road, London SW3 6LR, UK.
May 1987-March 1989: Appointed Lecturer (non-clinical) in Molecular Genetics, Haematology Department, King's College Hospital School of Medicine, University of London, Denmark Hill, London SE5 8RX, UK.
January 1985-April 1987: Post-Doctoral Research Fellow, Neurochemistry Department, Institute of Neurology, University College London, 1 Wakefield Street, London WC1N 1PJ, UK.
May 1984-December 1984: EMBO Long Term Fellowship, Institut de Biologie Animale, Université de Lausanne, CH-1015 Lausanne, Switzerland.
March 1983-April 1984: Wissenschaftlicher Angestellter, Institut für Humangenetik, Georg-August-Universität Göttingen, D-37070 Göttingen, Germany.
Engagement
Editor, Genetics & Disease section, Encyclopedia of Life Sciences (eLS) published by John Wiley.
Curator, Human Gene Mutation Database, a comprehensive collection of mutations underlying human inherited disease, marketed through a commercial partner, Qiagen [http://www.hgmd.org]. The key to our success in marketing the HGMD resource has been the coupling of the database to our own proprietary interrogatory software tools. Our customer base includes clinicians, medical genetics diagnostic laboratories, researchers in human genetics, genetic counsellors, and companies operating in the sphere of biopharmaceuticals, bioinformatics and personalised genomics.
External Examiner (since 2017), MSc course in Human Molecular Genetics, Imperial College, London [https://www.imperial.ac.uk/study/pg/medicine/human-molecular-genetics/].
I am currently ranked number 1772 (or second of seven Cardiff University researchers listed) in Google Scholar's list of Highly Cited Scientific Researchers worldwide [https://www.webometrics.info/en/hlargerthan100]