Browse by Current Cardiff authors

Higgins, Jan, Dalgleish, Raymond, Dunnen, Johan T., Barsh, Greg, Freeman, Peter J., Cooper, David N., Cullinan, Sara, Davies, Kay E., Dorkins, Huw, Gong, Li, Imoto, Issei, Klein, Teri E., Korf, Bruce, Misra, Adya, Paalman, Mark H., Ratzel, Sarah, Reichardt, Juergen K. V., Rehm, Heidi L., Tokunaga, Katsushi, Weck, Karen E. and Cutting, Garry R. 2021. Verifying nomenclature of DNA variants in submitted manuscripts: guidance for journals. Human Mutation 42 (1) , pp. 3-7. 10.1002/humu.24144 Item availability restricted.

Bacolla, Albino, Sengupta, Shiladitya, Ye, Zu, Yang, Chunying, Mitra, Joy, De-Paula, Ruth B, Hegde, Muralidhar L, Ahmed, Zamal, Mort, Matthew, Cooper, David N, Mitra, Sankar and Tainer, John A 2020. Heritable pattern of oxidized DNA base repair coincides with pre-targeting of repair complexes to open chromatin. Nucleic Acids Research 10.1093/nar/gkaa1120

Herzig, Anthony F., Génin, Emmanuelle, Cooper, David N., Masson, Emmanuelle, Férec, Claude and Chen, Jian-Min 2020. Role of the common PRSS1-PRSS2 haplotype in alcoholic and non-alcoholic chronic pancreatitis: meta- and re-analyses. Genes 11 (11) , 1349. 10.3390/genes11111349

Guéguen, Paul, Dupuis, Arnaud, Py, Jean-Yves, Desprès, Aurore, Masson, Emmanuelle, Le Marechal, Cédric, Cooper, David N., Gachet, Christian, Chen, Jian-Min and Férec, Claude 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 Item availability restricted.

Stenson, Peter D., Mort, Matthew, Ball, Edward V., Chapman, Molly, Evans, Katy, Azevedo, Luisa, Hayden, Matthew, Heywood, Sally, Millar, David S., Phillips, Andrew D. and Cooper, David N. 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

Cardoso-Moreira, Margarida, Sarropoulos, Ioannis, Velten, Britta, Mort, Matthew, Cooper, David N., Huber, Wolfgang and Kaessmann, Henrik 2020. Developmental gene expression differences between humans and mammalian models. Cell Reports 33 (4) , 108308. 10.1016/j.celrep.2020.108308

Pu, Na, Yang, Qi, Shi, Xiao-Lei, Chen, Wei-Wei, Li, Xiao-Yao, Zhang, Guo-Fu, Li, Gang, Li, Bai-Qiang, Ke, Lu, Tong, Zhi-Hui, Cooper, David N., Chen, Jian-Min, Li, Wei-Qin and Li, Jie-Shou 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 Item availability restricted.

Rausell, Antonio, Luo, Yufei, Lopez, Marie, Seeleuthner, Yoann, Rapaport, Franck, Favier, Antoine, Stenson, Peter D., Cooper, David N., Patin, Etienne, Casanova, Jean-Laurent, Quintana-Murci, Lluis and Abel, Laurent 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, Johannes, Haeussler, Maximilian, Deisseroth, Cole A., Steinberg, Ethan H., Jagadeesh, Karthik A., Ratner, Alexander J., Guturu, Harendra, Wenger, Aaron M., Diekhans, Mark E., Stenson, Peter D., Cooper, David N., Ré, Christopher, Beggs, Alan H., Bernstein, Jonathan A. and Bejerano, Gill 2020. AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature. Science Translational Medicine 12 (544) , eaau9113. 10.1126/scitranslmed.aau9113

Lin, Jin-Huan, Boulling, Arnaud, Masson, Emmanuelle, Cooper, David N., Li, Zhao-Shen, Férec, Claude, Liao, Zhuan and Chen, Jian-Min 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, Johannes, Deisseroth, Cole A., Hayward, Laura E., Galhardo, Luisa M. T., Tierno, Andrew P., Jagadeesh, Karthik A., Stenson, Peter D., Cooper, David N., Bernstein, Jonathan A., Haeussler, Maximilian and Bejerano, Gill 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, Xiao-Lei, Yang, Qi, Pu, Na, Li, Xiao-Yao, Chen, Wei-Wei, Zhou, Jing, Li, Gang, Tong, Zhi-Hui, Férec, Claude, Cooper, David N., Chen, Jian-Min and Li, Wei-Qin 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) , e1048. 10.1002/mgg3.1048

Pei, Zhang, Jie-Si, Chen, Qi-Ye, Li, Long-Xiang, Sheng, Yi-Xing, Gao, Bing-Zheng, Lu, Wen-Bo, Zhu, Xiao-Yu, Zhan, Yuan, Li, Zhi-Bing, Yuan, Gang, Xu, Bi-Tao, Qiu, Min, Yan, Chun-Xue, Guo, You-Qiong, Wang, Yi-Jun, Huang, Jing-Xia, Zhang, Fu-Yu, Liu, Zhong-Wei, Tang, Sui-Zhen, Lin, Cooper, David N., Huan-Ming, Yang, Jian, Wang, Yu-Qi, Gao, Wei, Yin, Guo-Jie, Zhang and Guang-Mei, Yan 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, Jian-Min, Lin, Jin-Huan, Masson, Emmanuelle, Liao, Zhuan, Férec, Claude, Cooper, David N. and Hayden, Matthew 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

Neville, Matthew D.C., Kohze, Robin, Erady, Chaitanya, Meena, Narendra, Hayden, Matthew, Cooper, David N., Mort, Matthew and Prabakaran, Sudhakaran 2020. A platform for curated products from novel Open Reading Frames (nORFs) prompts reinterpretation of disease variants. Genome Research

Lin, Hai, Hargreaves, Katherine A., Li, Rudong, Reiter, Jill L., Wang, Yue, Mort, Matthew, Cooper, David N., Zhou, Yaoqi, Zhang, Chi, Eadon, Michael T., Dolan, M. Eileen, Ipe, Joseph, Skaar, Todd C. and Liu, Yunlong 2019. RegSNPs-intron: a computational framework for predicting pathogenic impact of intronic single nucleotide variants. Genome Biology 20 (1) , 254. 10.1186/s13059-019-1847-4

Gurdasani, Deepti, Carstensen, Tommy, Fatumo, Segun, Chen, Guanjie, Franklin, Chris S., Prado-Martinez, Javier, Bouman, Heleen, Abascal, Federico, Haber, Marc, Tachmazidou, Ioanna, Mathieson, Iain, Ekoru, Kenneth, DeGorter, Marianne K., Nsubuga, Rebecca N., Finan, Chris, Wheeler, Eleanor, Chen, Li, Cooper, David N., Schiffels, Stephen, Chen, Yuan, Ritchie, Graham R.S., Pollard, Martin O., Fortune, Mary D., Mentzer, Alex J., Garrison, Erik, Bergström, Anders, Hatzikotoulas, Konstantinos, Adeyemo, Adebowale, Doumatey, Ayo, Elding, Heather, Wain, Louise V., Ehret, George, Auer, Paul L., Kooperberg, Charles L., Reiner, Alexander P., Franceschini, Nora, Maher, Dermot P., Montgomery, Stephen B., Kadie, Carl, Widmer, Chris, Xue, Yali, Seeley, Janet, Asiki, Gershim, Kamali, Anatoli, Young, Elizabeth H., Pomilla, Cristina, Soranzo, Nicole, Zeggini, Eleftheria, Pirie, Fraser, Morris, Andrew P., Heckerman, David, Tyler-Smith, Chris, Motala, Ayesha, Rotimi, Charles, Kaleebu, Pontiano, Barroso, Ines and Sandhu, Manj S. 2019. Uganda genome resource enables insights into population history and genomic discovery in Africa. Cell 179 (4) , 984-1002.e36. 10.1016/j.cell.2019.10.004

Lin, Jin-Huan, Tang, Xin-Ying, Boulling, Arnaud, Zou, Wen-Bin, Masson, Emmanuelle, Fichou, Yann, Raud, Loann, Le Tertre, Marlène, Deng, Shun-Jiang, Berlivet, Isabelle, Ka, Chandran, Mort, Matthew, Hayden, Matthew, Leman, Raphaël, Houdayer, Claude, Le Gac, Gerald, Cooper, David N., Li, Zhao-Shen, Férec, Claude, Liao, Zhuan and Chen, Jian-Min 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, Ye, Zhu, Caixia, Du, Liu, Li, Qiaoer, Lin, Mei-Fang, Férec, Claude, Cooper, David N., Chen, Jian-Min and Zhou, Yi 2019. Compound heterozygosity for novel truncating variants in the LMOD3 gene as the cause of polyhydramnios in two successive fetuses. Frontiers in Genetics 10 , -. 10.3389/fgene.2019.00835

Fragoza, Robert, Das, Jishnu, Wierbowski, Shayne D., Liang, Jin, Tran, Tina N., Liang, Siqi, Beltran, Juan F., Rivera-Erick, Christen A., Ye, Kaixiong, Wang, Ting-Yi, Yao, Li, Mort, Matthew, Stenson, Peter D., Cooper, David N., Wei, Xiaomu, Keinan, Alon, Schimenti, John C., Clark, Andrew G. and Yu, Haiyuan 2019. Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. Nature Communications 10 (1) , 4141. 10.1038/s41467-019-11959-3

Simeonidis, Stavros, Koutsilieri, Stefania, Vozikis, Athanassios, Cooper, David N., Mitropoulou, Christina and Patrinos, George P. 2019. Application of economic evaluation to assess feasibility for reimbursement of genomic testing as part of personalized medicine interventions. Frontiers in Pharmacology 10 , 830. 10.3389/fphar.2019.00830

Cardoso-Moreira, Margarida, Halbert, Jean, Valloton, Delphine, Velten, Britta, Chen, Chunyan, Shao, Yi, Liechti, Angélica, Ascenção, Kelly, Rummel, Coralie, Ovchinnikova, Svetlana, Mazin, Pavel V., Xenarios, Ioannis, Harshman, Keith, Mort, Matthew, Cooper, David N., Sandi, Carmen, Soares, Michael J., Ferreira, Paula G., Afonso, Sandra, Carneiro, Miguel, Turner, James M. A., VandeBerg, John L., Fallahshahroudi, Amir, Jensen, Per, Behr, Rüdiger, Lisgo, Steven, Lindsay, Susan, Khaitovich, Philipp, Huber, Wolfgang, Baker, Julie, Anders, Simon, Zhang, Yong E. and Kaessmann, Henrik 2019. Gene expression across mammalian organ development. Nature 571 , 505 - 509. 10.1038/s41586-019-1338-5

Schwarz, Jana Marie, Hombach, Daniela, Köhler, Sebastian, Cooper, David N, Schuelke, Markus and Seelow, Dominik 2019. RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants. Nucleic Acids Research 47 (W1) , W106-W113. 10.1093/nar/gkz327

Zhang, Peng, Boisson, Bertrand, Stenson, Peter D., Cooper, David N., Casanova, Jean-Laurent, Abel, Laurent and Itan, Yuval 2019. SeqTailor: a user-friendly webserver for the extraction of DNA or protein sequences from next-generation sequencing data. Nucleic Acids Research 47 (W1) , W623-W631. 10.1093/nar/gkz326

Pagel, Kymberleigh A., Antaki, Danny, Lian, AoJie, Mort, Matthew, Cooper, David N., Sebat, Jonathan, Iakoucheva, Lilia M., Mooney, Sean D. and Radivojac, Predrag 2019. Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome. PLoS Computational Biology 15 (6) , e1007112. 10.1371/journal.pcbi.1007112

Johnston, Jennifer J., Williamson, Kathleen A., Chou, Christopher M., Sapp, Julie C., Ansari, Morad, Chapman, Heather M., Cooper, David N., Dabir, Tabib, Dudley, Jeffrey N., Holt, Richard J., Ragge, Nicola K., Schäffer, Alejandro A., Sen, Shurjo K., Slavotinek, Anne M., FitzPatrick, David R., Glaser, Thomas M., Stewart, Fiona, Black, Graeme C.M. and Biesecker, Leslie G. 2019. NAA10 polyadenylation signal variants cause syndromic microphthalmia. Journal of Medical Genetics 56 (7) , pp. 444-453. 10.1136/jmedgenet-2018-105836

Jagadeesh, Karthik A., Paggi, Joseph M., Ye, James S., Stenson, Peter D., Cooper, David N., Bernstein, Jonathan A. and Bejerano, Gill 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

Tang, Xin-Ying, Lin, Jin-Huan, Zou, Wen-Bin, Masson, Emmanuelle, Boulling, Arnaud, Deng, Shun-Jiang, Cooper, David N., Liao, Zhuan, Férec, Claude, Li, Zhao-Shen and Chen, Jian-Min 2019. Toward a clinical diagnostic pipeline for SPINK1 intronic variants. Human Genomics 13 (1) , 8. 10.1186/s40246-019-0193-7

Rogozin, Igor, Roche-Lima, Abiel, Lada, Artem, Belinky, Frida, Sidorenko, Ivan, Glazko, Galina, Babenko, Vladimir, Cooper, David and Pavlov, Youri 2019. Nucleotide weight matrices reveal ubiquitous mutational footprints of AID/APOBEC deaminases in human cancer genomes. Cancers 11 (2) , 211. 10.3390/cancers11020211

Maffucci, Patrick, Bigio, Benedetta, Rapaport, Franck, Cobat, Aurélie, Borghesi, Alessandro, Lopez, Marie, Patin, Etienne, Bolze, Alexandre, Shang, Lei, Bendavid, Matthieu, Scott, Eric M., Stenson, Peter D., Cunningham-Rundles, Charlotte, Cooper, David N., Gleeson, Joseph G., Fellay, Jacques, Quintana-Murci, Lluis, Casanova, Jean-Laurent, Abel, Laurent, Boisson, Bertrand and Itan, Yuval 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, Anna, Schäfer, Eleonora, Mautner, Victor-Felix, Messiaen, Ludwine, Cooper, David N. and Kehrer-Sawatzki, Hildegard 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

Robinson-Rechavi, Marc, Mohammed Ismail, Wazim, Pagel, Kymberleigh A., Pejaver, Vikas, Zhang, Simo V., Casasa, Sofia, Mort, Matthew, Cooper, David, Hahn, Matthew W. and Radivojac, Predrag 2018. The sequencing and interpretation of the genome obtained from a Serbian individual. PLoS ONE 13 (12) , e0208901. 10.1371/journal.pone.0208901

Zou, Wen-Bin, Tang, Xin-Ying, Zhou, Dai-Zhan, Qian, Yang-Yang, Hu, Liang-Hao, Yu, Fei-Fei, Yu, Dong, Wu, Hao, Deng, Shun-Jiang, Lin, Jin-Huan, Zhao, An-Jing, Zhao, Zhen-Hua, Wu, Hong-Yu, Zhu, Jia-Hui, Qian, Wei, Wang, Lei, Xin, Lei, Wang, Min-Jun, Wang, Li-Juan, Fang, Xue, He, Lin, Masson, Emmanuelle, Cooper, David N., Férec, Claude, Li, Zhao-Shen, Chen, Jian-Min and Liao, Zhuan 2018. SPINK1, PRSS1, CTRC, and CFTR genotypes influence disease onset and clinical outcomes in chronic pancreatitis. Clinical and Translational Gastroenterology 9 (11) , 204. 10.1038/s41424-018-0069-5

Birgmeier, Johannes, Tierno, Andrew, Stenson, Peter, Deisseroth, Cole, Jagadeesh, Karthik, Cooper, David, Bernstein, Jonathan, Haeussler, Maximilian and Bejerano, Gill 2018. AVADA improves automated genetic variant database construction directly from full-text literature. bioRxiv 10.1101/461269

Rogozin, Igor B., Pavlov, Youri I., Goncearenco, Alexander, De, Subhajyoti, Lada, Artem G., Poliakov, Eugenia, Panchenko, Anna R. and Cooper, David N. 2018. Mutational signatures and mutable motifs in cancer genomes. Briefings in Bioinformatics 19 (6) , pp. 1085-1101. 10.1093/bib/bbx049

Caciotti, Anna, Tonin, Rodolfo, Mort, Matthew, Cooper, David N., Gasperini, Serena, Rigoldi, Miriam, Parini, Rossella, Deodato, Federica, Taurisano, Roberta, Sibilio, Michelina, Parenti, Giancarlo, Guerrini, Renzo and Morrone, Amelia 2018. Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease. BMC Medical Genetics 19 (1) , 183. 10.1186/s12881-018-0694-6

Kehrer-Sawatzki, Hildegard, Kluwe, Lan, Friedrich, Reinhard E., Summerer, Anna, Schäfer, Eleonora, Wahlländer, Ute, Matthies, Cordula, Gugel, Isabel, Farschtschi, Said, Hagel, Christian, Cooper, David N. and Mautner, Victor-Felix 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, Anna, Mautner, Victor-Felix, Upadhyaya, Meena, Claes, Kathleen B. M., Högel, Josef, Cooper, David N., Messiaen, Ludwine and Kehrer-Sawatzki, Hildegard 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, David, Maffucci, Patrick, Bigio, Benedetta, Shang, Lei, Abhyankar, Avinash, Boisson, Bertrand, Stenson, Peter D, Cooper, David N, Cunningham-Rundles, Charlotte, Casanova, Jean-Laurent, Abel, Laurent and Itan, Yuval 2018. CDG: an online server proposing biologically closest disease-causing genes and pathologies and its application to primary immunodeficiency. Frontiers in Immunology 9 , 1340. 10.3389/fimmu.2018.01340

Cooper, David N., Mitropoulou, Christina, Brand, Angela, Dolzan, Vita, Fortina, Paolo, Innocenti, Federico, Lee, Ming T.M., Macek, Milan, Mitropoulos, Konstantinos, Al-Mulla, Fahd, Prainsack, Barbara, van Schaik, Ron H., Squassina, Alessio, Taruscio, Domenica, Vayena, Effy, Vozikis, Athanassios, Williams, Marc S., Ylstra, Bauke and Patrinos, George P. 2018. The Genomic Medicine Alliance: A global effort to facilitate the introduction of genomics into healthcare in developing nations. In: Lopez-Correa, Catalina and Patrinos, George 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, Lisa, Summerer, Anna, Cooper, David N., Mautner, Victor-F. and Kehrer-Sawatzki, Hildegard 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, Igor B., Goncearenco, Alexander, Lada, Artem G., De, Subhajyoti, Nudelman, German, Panchenko, Anna R., Cooper, David N. and Pavlov, Youri I. 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, Emmanuelle, Chen, Jian-Min, Cooper, David and Férec, Claude 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

Zhao, Huiying, Yang, Yuedong, Lu, Yutong, Mort, Matthew, Cooper, David N., Zuo, Zhiyi and Zhou, Yaoqi 2018. Quantitative mapping of genetic similarity in human heritable diseases by shared mutations. Human Mutation 39 (2) , pp. 292-301. 10.1002/humu.23358

Rogers, Mark F., Shihab, Hashem A., Mort, Matthew, Cooper, David, Gaunt, Tom R. and Campbell, Colin 2018. FATHMM-XF: accurate prediction of pathogenic point mutations via extended features. Bioinformatics 34 (3) , pp. 511-513. 10.1093/bioinformatics/btx536

Wang, Ye, Wu, Xueli, Du, Liu, Zheng, Ju, Deng, Songqing, Bi, Xin, Chen, Qiuyan, Xie, Hongning, Férec, Claude, Cooper, David Neil, Luo, Yanmin, Fang, Qun and Chen, Jian-Min 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) , 3. 10.1186/s40246-018-0135-9

Bacolla, Albino, Cooper, David Neil, Vasquez, Karen M. and Tainer, John A. 2018. Non-B DNA structure and mutations causing human genetic disease. eLS, John Wiley & Sons, (10.1002/9780470015902.a0022657.pub2)

Mitropoulos, Konstantinos, Merkouri Papadima, Eleni, Xiromerisiou, Georgia, Balasopoulou, Angeliki, Charalampidou, Kyriaki, Galani, Vasiliki, Zafeiri, Krystallia-Vassiliki, Dardiotis, Efthymios, Ralli, Styliani, Deretzi, Georgia, John, Anne, Kydonopoulou, Kyriaki, Papadopoulou, Elpida, di Pardo, Alba, Akcimen, Fulya, Loizedda, Annalisa, Dobricic, Valerija, Novakovic, Ivana, Kostic, Vladimir S., Mizzi, Clint, Peters, Brock A., Basak, Nazli, Orrù, Sandro, Kiskinis, Evangelos, Cooper, David Neil, Gerou, Spyridon, Drmanac, Radoje, Bartsakoulia, Marina, Tsermpini, Evangelia-Eirini, Hadjigeorgiou, Georgios M., Ali, Bassam R., Katsila, Theodora and Patrinos, George P. 2017. Genomic variants in the FTO gene are associated with sporadic amyotrophic lateral sclerosis in Greek patients. Human Genomics 11 (1) , 30. 10.1186/s40246-017-0126-2

Venet, Théa, Masson, Emmanuelle, Talbotec, Cécile, Billiemaz, Kareen, Touraine, Renaud, Gay, Claire, Destombe, Sylvie, Cooper, David, Patural, Hugues, Chen, Jian-Min and Férec, Claude 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, Morten, Summerer, Anna, Mautner, Victor-Felix, Högel, Josef, Cooper, David Neil and Kehrer-Sawatzki, Hildegard 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, Hao, Boulling, Arnaud, Cooper, David Neil, Li, Zhao-Shen, Liao, Zhuan, Chen, Jian-Min and Férec, Claude 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, Konstantinos, Cooper, David Neil, Mitropoulou, Christina, Agathos, Spiros, Reichardt, Jürgen K.V., Al-Maskari, Fatima, Chantratita, Wasun, Wonkam, Ambroise, Dandara, Collet, Katsila, Theodora, Lopez-Correa, Catalina, Ali, Bassam R. and Patrinos, George P. 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, Hao, Boulling, Arnaud, Cooper, David, Li, Zhao-Shen, Liao, Zhuan, Férec, Claude and Chen, Jian-Min 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) , 263. 10.3390/genes8100263

Ferlaino, Michael, Rogers, Mark F., Shihab, Hashem A., Mort, Matthew, Cooper, David, Gaunt, Tom R. and Campbell, Colin 2017. An integrative approach to predicting the functional effects of small indels in non-coding regions of the human genome. BMC bioinformatics 18 (1) , 442. 10.1186/s12859-017-1862-y

Lu, Tianyun, Ish-Shalom, Shirbi, Torng, Wen, Lafita, Aleix, Bock, Christian, Mort, Matthew, Cooper, David Neil, Bliven, Spencer, Capitani, Guido, Mooney, Sean D. and Altman, Russ. B. 2017. Biological and functional relevance of CASP predictions. Proteins 10.1002/prot.25396

Livingstone, Mark, Folkman, Lukas, Yang, Yuedong, Zhang, Ping, Mort, Matthew, Cooper, David, Liu, Yunlong, Stantic, Bela and Zhou, Yaoqi 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

Zhang, Xinjun, Li, Meng, Lin, Hai, Rao, Xi, Feng, Weixing, Yang, Yuedong, Mort, Matthew, Cooper, David, Wang, Yue, Wang, Yadong, Wells, Clark, Zhou, Yaoqi and Liu, Yunlong 2017. regSNPs-splicing: a tool for prioritizing synonymous single-nucleotide substitution. Human Genetics 136 (9) , pp. 1279-1289. 10.1007/s00439-017-1783-x

Liao, Zhuan, Li, Zhao-Shen, Cooper, David N., Férec, Claude and Chen, Jian-Min 2017. Pathogenetics of chronic pancreatitis. In: Li, ZS, Liao, Z, Chen, JM and Férec, C eds. Chronic Pancreatitis, Singapore: Springer, pp. 63-77. (10.1007/978-981-10-4515-8_6)

Zou, Wen-Bin, Cooper, David N., Liao, Zhuan, Chen, Jian-Min and Li, Zhao-Shen 2017. A short history of research into chronic pancreatitis. In: Li, ZS, Liao, Z, Chen, JM and Férec, C eds. Chronic Pancreatitis, Singapore: Springer, pp. 1-15. (10.1007/978-981-10-4515-8_1)

Boulling, Arnaud, Masson, Emmanuelle, Zou, Wen-Bin, Paliwal, Sumit, Wu, Hao, Issarapu, Prachand, Bhaskar, Seema, Génin, Emmanuelle, Cooper, David, Li, Zhao-Shen, Chandak, Giriraj R, Liao, Zhuan, Chen, Jian-Min and Férec, Claude 2017. Identification of a functional enhancer variant within the chronic pancreatitis-associated SPINK1 c.101A>G (p.Asn34Ser)-containing haplotype. Human Mutation 38 (8) , pp. 1014-1024. 10.1002/humu.23269

Pagel, Kymberleigh A., Pejaver, Vikas, Lin, Guan Ning, Nam, Hyun-Jun, Mort, Matthew, Cooper, David Neil, Sebat, Jonathan, Iakoucheva, Lilia M., Mooney, Sean D. and Radivojac, Predrag 2017. When loss-of-function is loss of function: assessing mutational signatures and impact of loss-of-function genetic variants. Bioinformatics 33 (14) , i389-i398. 10.1093/bioinformatics/btx272

Lualdi, Susanna, Del Zotto, Genny, Zegarra-Moran, Olga, Pedemonte, Nicoletta, Corsolini, Fabio, Bruschi, Maurizio, Tomati, Valeria, Amico, Giulia, Candiano, Giovanni, Dardis, Andrea, Cooper, David Neil and Filocamo, Mirella 2017. In vitro recapitulation of the site-specific editing (to wild-type) of mutant IDS mRNA transcripts, and the characterization of IDS protein translated from the edited mRNAs. Human Mutation 38 (7) , pp. 849-862. 10.1002/humu.23243

Philpott, Charlotte, Tovell, Hannah, Frayling, Ian Martin, Cooper, David Neil and Upadhyaya, Meena 2017. The NF1 somatic mutational landscape in sporadic human cancers. Human Genomics 11 (1) , 13. 10.1186/s40246-017-0109-3

Stenson, Peter D., Mort, Matthew, Ball, Edward V., Evans, Katy, Hayden, Matthew, Heywood, Sally, Hussain, Michelle, Phillips, Andrew and Cooper, David N. 2017. The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. Human Genetics 136 (6) , pp. 665-677. 10.1007/s00439-017-1779-6

Wu, Hao, Zhou, Dai-Zhan, Berki, Dorottya, Geisz, Andrea, Zou, Wen-Bin, Sun, Xiao-Tian, Hu, Liang-Hao, Zhao, Zhen-Hua, Zhao, An-Jing, He, Lin, Cooper, David, Férec, Claude, Chen, Jian-Min, Li, Zhao-Shen, Sahin-Tóth, Miklós and Liao, Zhuan 2017. No significant enrichment of rare functionally defective CPA1 variants in a large Chinese idiopathic chronic pancreatitis cohort. Human Mutation 38 (8) , pp. 959-963. 10.1002/humu.23254

Zou, Wen-Bin, Wu, Hao, Boulling, Arnaud, Cooper, David Neil, Li, Zhao-Shen, Liao, Zhuan, Chen, Jian-Min and Férec, Claude 2017. In silico prioritization and further functional characterization of SPINK1 intronic variants. Human Genomics 11 (7) 10.1186/s40246-017-0103-9

Kehrer‑Sawatzki, Hildegard, Mautner, Victor‑Felix and Cooper, David N 2017. Emerging genotype-phenotype relationships in patients with large NF1 deletions. Human Genetics 136 , pp. 349-376. 10.1007/s00439-017-1766-y

Kehrer-Sawatzki, Hildegard, Farschtschi, Said, Mautner, Victor-Felix and Cooper, David Neil 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

Knecht, Carolin, Mort, Matthew, Junge, Olaf, Cooper, David Neil, Krawczak, Michael and Caliebe, Amke 2017. IMHOTEP A composite score integrating popular tools for predicting the functional consequences of non-synonymous sequence variants. Nucleic Acids Research 45 (3) , e13. 10.1093/nar/gkw886

Liang, Siqi, Tippens, Nathaniel D., Zhou, Yaoda, Mort, Matthew, Stenson, Peter D., Cooper, David Neil and Yu, Haiyuan 2017. iRegNet3D: three-dimensional integrated regulatory network for the genomic analysis of coding and non-coding disease mutations. Genome Biology 18 (1) , 10. 10.1186/s13059-016-1138-2

Li, Meng, Feng, Weixing, Zhang, Xinjun, Yang, Yuedong, Wang, Kejun, Mort, Matthew, Cooper, David Neil, Wang, Yue, Zhou, Yaoqi and Liu, Yunlong 2017. ExonImpact: prioritizing pathogenic alternative splicing events. Human Mutation 38 (1) , pp. 16-24. 10.1002/humu.23111

Vozikis, Athanassios, Cooper, David Neil, Mitropoulou, Christina, Kambouris, Manousos E., Brand, Angela, Dolzan, Vita, Fortina, Paolo, Innocenti, Federico, Lee, Ming Ta Michael, Leyens, Lada, Macek Jr, Milan, Al-Mulla, Fahd, Prainsack, Barbara, Squassina, Alessio, Taruscio, Domenica, van Schaik, Ron H., Vayena, Effy, Williams, Marc S. and Patrinos, George P. 2017. Test pricing and reimbursement in genomic medicine: Towards a general strategy. Public Health Genomics 19 (6) , pp. 352-363. 10.1159/000449152

Ku, Chee-Seng, Cooper, David Neil and Patrinos, George P. 2017. The rise and rise of exome sequencing. Public Health Genomics 19 (6) , pp. 315-324. 10.1159/000450991

Jagadeesh, Karthik A., Wenger, Aaron M., Berger, Mark J., Guturu, Harendra, Stenson, Peter D., Cooper, David N., Bernstein, Jonathan A. and Bejerano, Gill 2016. M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity. Nature Genetics 48 (12) , pp. 1581-1586. 10.1038/ng.3703

Hillmer, Morten, Wagner, David, Summerer, Anna, Daiber, Michaela, Mautner, Victor-Felix, Messiaen, Ludwine, Cooper, David Neil and Kehrer-Sawatzki, Hildegard 2016. Fine mapping of meiotic NAHR-associated crossovers causing large NF1 deletions. Human Molecular Genetics 25 (3) , pp. 484-496. 10.1093/hmg/ddv487

Kehrer-Sawatzki, Hildegard and Cooper, David Neil 2016. Sequencing the Human Genome: Novel insights into its structure and function. eLS 10.1002/9780470015902.a0001899.pub3

Boulling, Arnaud, Abrantes, Amandine, Masson, Emmanuelle, Cooper, David Neil, Robaszkiewicz, Michel, Chen, Jian-Min and Férec, Claude 2016. Discovery and functional annotation of PRSS1 promoter variants in chronic pancreatitis. Human Mutation 37 (11) , pp. 1149-1152. 10.1002/humu.23053

Azevedo, Luisa, Mort, Matthew, Costa, Antonio C, Silva, Raquel M, Quelhas, Dulce, Amorim, Antonio and Cooper, David Neil 2016. Improving the in silico assessment of pathogenicity for compensated variants. European Journal of Human Genetics 25 (1) , pp. 2-7. 10.1038/ejhg.2016.129

Peterson, Thomas A., Mort, Matthew, Cooper, David Neil, Radivojac, Predrag, Kann, Maricel G. and Mooney, Sean D. 2016. Regulatory single-nucleotide variant predictor increases predictive performance of functional regulatory variants. Human Mutation 37 (11) , pp. 1137-1143. 10.1002/humu.23049

Lugo-Martinez, Jose, Pejaver, Vikas, Pagel, Kymberleigh A., Jain, Shantanu, Mort, Matthew, Cooper, David Neil, Mooney, Sean D. and Radivojac, Predrag 2016. The loss and gain of functional amino acid residues is a common mechanism causing human inherited disease. PLoS Computational Biology 12 (8) , e1005091. 10.1371/journal.pcbi.1005091

Lek, Monkol, Karczewski, Konrad J., Minikel, Eric V., Samocha, Kaitlin E., Banks, Eric, Fennell, Timothy, O'Donnell-Luria, Anne H., Ware, James S., Hill, Andrew J., Cummings, Beryl B., Tukiainen, Taru, Birnbaum, Daniel P., Kosmicki, Jack A., Duncan, Laramie E., Estrada, Karol, Zhao, Fengmei, Zou, James, Pierce-Hoffman, Emma, Berghout, Joanne, Cooper, David N., Deflaux, Nicole, DePristo, Mark, Do, Ron, Flannick, Jason, Fromer, Menachem, Gauthier, Laura, Goldstein, Jackie, Gupta, Namrata, Howrigan, Daniel, Kiezun, Adam, Kurki, Mitja I., Moonshine, Ami Levy, Natarajan, Pradeep, Orozco, Lorena, Peloso, Gina M., Poplin, Ryan, Rivas, Manuel A., Ruano-Rubio, Valentin, Rose, Samuel A., Ruderfer, Douglas M., Shakir, Khalid, Stenson, Peter D., Stevens, Christine, Thomas, Brett P., Tiao, Grace, Tusie-Luna, Maria T., Weisburd, Ben, Won, Hong-Hee, Yu, Dongmei, Altshuler, David M., Ardissino, Diego, Boehnke, Michael, Danesh, John, Donnelly, Stacey, Elosua, Roberto, Florez, Jose C., Gabriel, Stacey B., Getz, Gad, Glatt, Stephen J., Hultman, Christina M., Kathiresan, Sekar, Laakso, Markku, McCarroll, Steven, McCarthy, Mark I., McGovern, Dermot, McPherson, Ruth, Neale, Benjamin M., Palotie, Aarno, Purcell, Shaun M., Saleheen, Danish, Scharf, Jeremiah M., Sklar, Pamela, Sullivan, Patrick F., Tuomilehto, Jaakko, Tsuang, Ming T., Watkins, Hugh C., Wilson, James G., Daly, Mark J. and MacArthur, Daniel G. 2016. Analysis of protein-coding genetic variation in 60,706 humans. Nature 536 , pp. 285-291. 10.1038/nature19057

Matos, Sérgio, Campos, David, Pinho, Renato, Silva, Raquel M., Mort, Matthew, Cooper, David Neil and Oliveira, José Luís 2016. Mining clinical attributes of genomic variants through assisted literature curation in Egas. Database 2016 , baw096. 10.1093/database/baw096

Zou, Wen-Bin, Boulling, Arnaud, Masamune, Atsushi, Issarapu, Prachand, Masson, Emmanuelle, Wu, Hao, Sun, Xiao-Tian, Hu, Liang-Hao, Zhou, Dai-Zhan, He, Lin, Fichou, Yann, Nakano, Eriko, Hamada, Shin, Kakuta, Yoichi, Kume, Kiyoshi, Isayama, Hiroyuki, Paliwal, Sumit, Mani, K. Radha, Bhaskar, Seema, Cooper, David Neil, Férec, Claude, Shimosegawa, Tooru, Chandak, Giriraj R., Chen, Jian-Min, Li, Zhao-Shen and Liao, Zhuan 2016. No association between CEL-HYB hybrid allele and chronic pancreatitis in Asian populations. Gastroenterology 150 (7) , pp. 1558-1560. 10.1053/j.gastro.2016.02.071

Meyer, Michael J., Lapcevic, Ryan, Romero, Alfonso E., Yoon, Mark, Das, Jishnu, Beltrán, Juan Felipe, Mort, Matthew, Stenson, Peter Daniel, Cooper, David Neil, Paccanaro, Alberto and Yu, Haiyuan 2016. mutation3D: cancer gene prediction through atomic clustering of coding variants in the structural proteome. Human Mutation 37 (5) , pp. 447-456. 10.1002/humu.22963

Bacolla, Albino, Tainer, John A., Vasquez, Karen M. and Cooper, David Neil 2016. Translocation and deletion breakpoints in cancer genomes are associated with potential non-B DNA-forming sequences. Nucleic Acids Research 44 (12) , pp. 5673-5688. 10.1093/nar/gkw261

Zou, Wen-Bin, Boulling, Arnaud, Masson, Emmanuelle, Cooper, David Neil, Liao, Zhuan, Li, Zhao-Shen, Férec, Claude and Chen, Jian-Min 2016. Clarifying the clinical relevance of SPINK1 intronic variants in chronic pancreatitis [Letter]. Gut 65 (5) , pp. 884-886. 10.1136/gutjnl-2015-311168

Chen, Jian-Min and Cooper, David Neil 2016. A mechanistic link between L1 retrotransposition and chromothripsis. Human Mutation 37 (4) , p. 329. 10.1002/humu.22870

Zou, Wen-Bin, Masson, Emmanuelle, Boulling, Arnaud, Cooper, David Neil, Li, Zhao-Shen, Liao, Zhuan, Férec, Claude and Chen, Jian-Min 2016. Digging deeper into the intronic sequences of the SPINK1 gene [Letter]. Gut 65 (6) , pp. 1055-1056. 10.1136/gutjnl-2016-311428

Itan, Yuval, Shang, Lei, Boisson, Bertrand, Ciancanelli, Michael J, Markle, Janet G, Martinez-Barricarte, Ruben, Scott, Eric, Shah, Ishaan, Stenson, Peter Daniel, Gleeson, Joseph, Cooper, David Neil, Quintana-Murci, Lluis, Zhang, Shen-Ying, Abel, Laurent and Casanova, Jean-Laurent 2016. The mutation significance cutoff: gene-level thresholds for variant predictions [Letter]. Nature Methods 13 (2) , pp. 109-110. 10.1038/nmeth.3739

Itan, Yuval, Shang, Lei, Boisson, Bertrand, Patin, Etienne, Bolze, Alexandre, Moncada-Vélez, Marcela, Scott, Eric, Ciancanelli, Michael J., Lafaille, Fabien G., Markle, Janet G., Martinez-Barricarte, Ruben, de Jong, Sarah Jill, Kong, Xiao-Fei, Nitschke, Patrick, Belkadi, Aziz, Bustamante, Jacinta, Puel, Anne, Boisson-Dupuis, Stéphanie, Stenson, Peter D., Gleeson, Joseph G., Cooper, David Neil, Quintana-Murci, Lluis, Claverie, Jean-Michel, Zhang, Shen-Ying, Abel, Laurent and Casanova, Jean-Laurent 2015. The human gene damage index as a gene-level approach to prioritizing exome variants. Proceedings of the National Academy of Sciences of the United States of America 112 (44) , pp. 13615-13620. 10.1073/pnas.1518646112

Kamat, Mihir Anant, Bacolla, Albino, Cooper, David Neil and Chuzhanova, Nadia 2015. A role for non-B DNA forming sequences in mediating microlesions causing human inherited disease. Human Mutation 37 (1) , pp. 65-73. 10.1002/humu.22917

Turner, Tychele N., Douville, Christopher, Kim, Dewey, Stenson, Peter Daniel, Cooper, David Neil, Chakravarti, Aravinda and Karchin, Rachel 2015. Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns. Human Molecular Genetics 24 (21) , pp. 5995-6002. 10.1093/hmg/ddv309

Upadhyaya, Meena, Winston, Jincy, Radcliffe, E., Mort, Matthew, Dodd, Kayleigh, Tee, Andrew, McDyer, F., Moore, S., Cooper, David Neil and Thomas, L. 2015. Correlation of copy number changes and gene expression in neurofibromatosis1-associated malignant peripheral nerve sheath tumours [Abstract]. Pediatric Blood and Cancer 62 (S4) , S152-S152. 10.1002/pbc.25715

Douville, Christopher, Masica, David L., Stenson, Peter Daniel, Cooper, David Neil, Gygax, Derek M., Kim, Rick, Ryan, Michael and Karchin, Rachel 2015. Assessing the pathogenicity of insertion and deletion variants with the Variant Effect Scoring Tool (VEST-Indel). Human Mutation 37 (1) , pp. 28-35. 10.1002/humu.22911

Mayes, Mary B., Morgan, Taniesha, Winston, Jincy, Buxton, Daniel S., Kamat, Mihir Anant, Smith, Debbie, Williams, Maggie, Martin, Rebecca L., Kleinjan, Dirk A., Cooper, David Neil, Upadhyaya, Meena and Chuzhanova, Nadia 2015. Remotely acting SMCHD1 gene regulatory elements: in silico prediction and identification of potential regulatory variants in patients with FSHD. Human Genomics 9 , 25. 10.1186/s40246-015-0047-x

1000 Genomes Project Consortium, , Auton, Adam, Abecasis, Gonçalo R., Cooper, David N., Ball, Edward V. and Stenson, Peter D. 2015. A global reference for human genetic variation. Nature 526 , pp. 68-74. 10.1038/nature15393

Azevedo, Luisa, Serrano, Catarina, Amorim, Antonio and Cooper, David Neil 2015. Trans-species polymorphism in humans and the great apes is generally maintained by balancing selection that modulates the host immune response. Human Genomics 9 , 21. 10.1186/s40246-015-0043-1

Chen, Jian-Min, Férec, Claude and Cooper, David Neil 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

Temiz, Nuri A., Donohue, Duncan E., Bacolla, Albino, Vasquez, Karen M., Cooper, David Neil, Mudunuri, Uma, Ivanic, Joseph, Cer, Regina Z., Yi, Ming, Stephens, Robert M., Collins, Jack R. and Luke, Brian T. 2015. The somatic autosomal mutation matrix in cancer genomes. Human Genetics 134 (8) , pp. 851-864. 10.1007/s00439-015-1566-1

Su, Peiqiang, Wang, Ye, Cooper, David Neil, Zhu, Wenjuan, Huang, Dongsheng, Férec, Claude, Wang, Yiming and Chen, Jian-Min 2015. Disclosing the hidden structure and underlying mutational mechanism of a novel type of duplication CNV responsible for hereditary multiple osteochondromas. Human Mutation 36 (8) , pp. 758-763. 10.1002/humu.22815

Temiz, Nuri A., Donohue, Duncan E., Bacolla, Albino, Vasquez, Karen M., Cooper, David, Mudunuri, Uma, Ivanic, Joseph, Cer, Regina Z., Yi, Ming, Stephens, Robert M., Collins, Jack R. and Luke, Brian T. 2015. Erratum to: The somatic autosomal mutation matrix in cancer genomes. Human Genetics 134 (8) , pp. 865-867. 10.1007/s00439-015-1576-z

Siegert, Sabine, Wolf, Andreas, Cooper, David Neil, Krawczak, Michael and Nothnagel, Michael 2015. Mutations causing complex disease may under certain circumstances be protective in an eidemiological sense. PLoS ONE 10 (7) , e0132150. 10.1371/journal.pone.0132150

Karageorgos, Ioannis, Mizzi, Clint, Giannopoulou, Efstathia, Pavlidis, Cristiana, Peters, Brock A., Zagoriti, Zoi, Stenson, Peter Daniel, Mitropoulos, Konstantinos, Borg, Joseph, Kalofonos, Haralabos P., Drmanac, Radoje, Stubbs, Andrew, van der Spek, Peter, Cooper, David Neil, Katsila, Theodora and Patrinos, George P. 2015. Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach. Human Genomics 9 , 12. 10.1186/s40246-015-0034-2

Johnston, Jennifer J., Lewis, Katie L., Ng, David, Singh, Larry N., Wynter, Jamila, Brewer, Carmen, Brooks, Brian P., Brownell, Isaac, Candotti, Fabio, Gonsalves, Steven G., Hart, Suzanne P., Kong, Heidi H., Rother, Kristina I., Sokolic, Robert, Solomon, Benjamin D., Zein, Wadih M., Cooper, David Neil, Stenson, Peter Daniel, Mullikin, James C. and Biesecker, Leslie G. 2015. Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations. American Journal of Human Genetics 96 (6) , pp. 913-925. 10.1016/j.ajhg.2015.04.013

Wang, Ye, Su, Peiqiang, Hu, Bin, Zhu, Wenjuan, Li, Qibin, Yuan, Ping, Li, Jiangchao, Guan, Xinyuan, Li, Fucheng, Jing, Xiangyi, Li, Ru, Zhang, Yongling, Férec, Claude, Cooper, David Neil, Wang, Jun, Huang, Dongsheng, Chen, Jian-Min and Wang, Yiming 2015. Characterization of 26 deletion CNVs reveals the frequent occurrence of micro-mutations within the breakpoint-flanking regions and frequent repair of double-strand breaks by templated insertions derived from remote genomic regions. Human Genetics 134 (6) , pp. 589-603. 10.1007/s00439-015-1539-4

Bacolla, A., Zhu, X., Chen, H., Howells, Katy, Cooper, David Neil and Vasquez, K. M. 2015. Local DNA dynamics shape mutational patterns of mononucleotide repeats in human genomes. Nucleic Acids Research 43 (10) , pp. 5065-5080. 10.1093/nar/gkv364

Folkman, L., Yang, Y., Li, Z., Stantic, B., Sattar, A., Mort, Matthew, Cooper, David Neil, Liu, Y. and Zhou, Y. 2015. DDIG-in: detecting disease-causing genetic variations due to frameshifting indels and nonsense mutations employing sequence and structural properties at nucleotide and protein levels. Bioinformatics 31 (10) , pp. 1599-1606. 10.1093/bioinformatics/btu862

Shihab, H. A., Rogers, M. F., Gough, J., Mort, Matthew, Cooper, David Neil, Day, I. N. M., Gaunt, T. R. and Campbell, C. 2015. An integrative approach to predicting the functional effects of non-coding and coding sequence variation. Bioinformatics 31 (10) , pp. 1536-1543. 10.1093/bioinformatics/btv009

Rivas, Manuel A., Pirinen, Matti, Conrad, Donald F., Lek, Monkol, Tsang, Emily K., Karczewski, Konrad J., Maller, Julian B., Kukurba, Kimberly R., DeLuca, David S., Fromer, Menachem, Ferreira, Pedro G., Smith, Kevin S., Zhang, Rui, Zhao, Fengmei, Banks, Eric, Poplin, Ryan, Ruderfer, Douglas M., Purcell, Shaun M., Tukiainen, Taru, Minikel, Eric V., Stenson, Peter D., Cooper, David N., Huang, Katharine H., Sullivan, Timothy J., Nedzel, Jared, Bustamante, Carlos D., Li, Jin B., Daly, Mark J., Guigo, Roderic, Donnelly, Peter, Ardlie, Kristin, Sammeth, Michael, Dermitzakis, Emmanouil T., McCarthy, Mark I., Montgomery, Stephen B., Lappalainen, Tuuli and MacArthur, Daniel G. 2015. Effect of predicted protein-truncating genetic variants on the human transcriptome. Science 348 (6235) , pp. 666-669. 10.1126/science.1261877

Xue, Yali, Prado-Martinez, Javier, Sudmant, Peter H., Narasimhan, Vagheesh, Ayub, Qasim, Szpak, Michal, Frandsen, Peter, Chen, Yuan, Yngvadottir, Bryndis, Cooper, David N., de Manuel, Marc, Hernandez-Rodriguez, Jessica, Lobon, Irene, Siegismund, Hans R., Pagani, Luca, Quail, Michael A., Hvilsom, Christina, Mudakikwa, Antoine, Eichler, Evan E., Cranfield, Michael R., Marques-Bonet, Tomas, Tyler-Smith, Chris and Scally, Aylwyn 2015. Mountain gorilla genomes reveal the impact of long-term population decline and inbreeding. Science 348 (6231) , pp. 242-245. 10.1126/science.aaa3952

Grimm, Dominik G., Azencott, Chloé-Agathe, Aicheler, Fabian, Gieraths, Udo, MacArthur, Daniel G., Samocha, Kaitlin E., Cooper, David Neil, Stenson, Peter Daniel, Daly, Mark J., Smoller, Jordan W., Duncan, Laramie E. and Borgwardt, Karsten M. 2015. The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity. Human Mutation 36 (5) , pp. 513-523. 10.1002/humu.22768

Poliakov, Eugenia, Cooper, David Neil, Stepchenkova, Elena I. and Rogozin, Igor B. 2015. Genetics in genomic era. Genetics Research International 2015 , 364960. 10.1155/2015/364960

Ferri, Lorenzo, Donati, Maria A, Funghini, Silvia, Cavicchi, Catia, Pensato, Viviana, Gellera, Cinzia, Natacci, Federica, Spaccini, Luigina, Gasperini, Serena, Vaz, Frédéric M, Cooper, David Neil, Guerrini, Renzo and Morrone, Amelia 2015. Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome. European Journal of Human Genetics 23 , pp. 1708-1712. 10.1038/ejhg.2015.50

Zhu, Wenjuan, Cooper, David Neil, Zhao, Qian, Wang, Ye, Liu, Ruihong, Li, Qibin, Férec, Claude, Wang, Yiming and Chen, Jian-Min 2015. Concurrent nucleotide substitution mutations in the human genome are characterized by a significantly decreased transition/transversion ratio. Human Mutation 36 (3) , pp. 333-341. 10.1002/humu.22749

Thomas, Laura E., Winston, Jincy, Rad, Ellie, Mort, Matthew, Dodd, Kayleigh M., Tee, Andrew, McDyer, Fionnuala, Moore, Stephen, Cooper, David Neil and Upadhyaya, Meena 2015. Evaluation of copy number variation and gene expression in neurofibromatosis type-1-associated malignant peripheral nerve sheath tumours. Human Genomics 9 (1) , 3. 10.1186/s40246-015-0025-3

Cooper, David Neil and Morton, Cynthia C. 2015. A changing of the guard at Human Genetics. Human Genetics 134 (1) , p. 1. 10.1007/s00439-014-1510-9

Rogers, Mark F., Campbell, Colin, Shihab, Hashem A., Gaunt, Tom R., Mort, Matthew and Cooper, David Neil 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 2015. Bioinformatics and Biomedicine (BIBM), 2015 IEEE International Conference on. IEEE, pp. 639-644. 10.1109/BIBM.2015.7359759

Wei, Xiaomu, Das, Jishnu, Fragoza, Robert, Liang, Jin, Bastos de Oliveira, Francisco M., Lee, Hao Ran, Wang, Xiujuan, Mort, Matthew, Stenson, Peter D., Cooper, David Neil, Lipkin, Steven M., Smolka, Marcus B. and Yu, Haiyuan 2014. A massively parallel pipeline to clone DNA variants and examine molecular phenotypes of human disease mutations. PLoS Genetics 10 (12) , e1004819. 10.1371/journal.pgen.1004819

Kehrer-Sawatzki, Hildegard, Bengesser, Kathrin, Callens, Tom, Mikhail, Fady, Fu, Chuanhua, Hillmer, Morten, Walker, Martha E., Saal, Howard M., Lacassie, Yves, Cooper, David Neil and Messiaen, Ludwine 2014. Identification of large NF1 duplications reciprocal to NAHR-mediated type-1 NF1 deletions. Human Mutation 35 (12) , pp. 1469-1475. 10.1002/humu.22692

Makrythanasis, Periklis, Nelis, Mari, Santoni, Federico A., Guipponi, Michel, Vannier, Anne, Béna, Frédérique, Gimelli, Stefania, Stathaki, Elisavet, Temtamy, Samia, Mégarbané, André, Masri, Amira, Aglan, Mona S., Zaki, Maha S., Bottani, Armand, Fokstuen, Siv, Gwanmesia, Lorraine, Aliferis, Konstantinos, Bustamante Eduardo, Mariana, Stamoulis, Georgios, Psoni, Stavroula, Kitsiou-Tzeli, Sofia, Fryssira, Helen, Kanavakis, Emmanouil, Al-Allawi, Nasir, Sefiani, Abdelaziz, Al Hait, Sana', Elalaoui, Siham C., Jalkh, Nadine, Al-Gazali, Lihadh, Al-Jasmi, Fatma, Bouhamed, Habiba Chaabouni, Abdalla, Ebtesam, Cooper, David Neil, Hamamy, Hanan and Antonarakis, Stylianos E. 2014. Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families. Human Mutation 35 (10) , pp. 1203-1210. 10.1002/humu.22617

Chen, Yun-Ching, Douville, Christopher, Wang, Cheng, Niknafs, Noushin, Yeo, Grace, Beleva-Guthrie, Violeta, Carter, Hannah, Stenson, Peter Daniel, Cooper, David Neil, Li, Biao, Mooney, Sean and Karchin, Rachel 2014. A probabilistic model to predict clinical phenotypic traits from genome sequencing. PLoS Computational Biology 10 (9) , e1003825. 10.1371/journal.pcbi.1003825

Potamias, George, Lakiotaki, Kleanthi, Katsila, Theodora, Lee, Ming Ta Michael, Topouzis, Stavros, Cooper, David Neil and Patrinos, George P. 2014. Deciphering next-generation pharmacogenomics: an information technology perspective. Open Biology 4 (7) , 140071. 10.1098/rsob.140071

Shihab, Hashem A., Gough, Julian, Mort, Matthew Edwin, Cooper, David Neil, Day, Ian N. M. and Gaunt, Tom R. 2014. Ranking non-synonymous single nucleotide polymorphisms based on disease concepts. Human Genomics 8 , 11. 10.1186/1479-7364-8-11

Vogt, Julia, Bengesser, Kathrin, Claes, Kathleen B. M., Wimmer, Katharina, Mautner, Victor-Felix, van Minkelen, Rick, Legius, Eric, Brems, Hilde, Upadhyaya, Meena, Hoegel, Josef, Lazaro, Conxi, Rosenbaum, Thorsten, Bammert, Simone, Messiaen, Ludwine, Cooper, David Neil and Kehrer-Sawatzki, Hildegard 2014. SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints. Genome Biology 15 (6) , R80. 10.1186/gb-2014-15-6-r80

Zhang, Xinjun, Lin, Hai, Zhao, Huiying, Hao, Yangyang, Mort, Matthew, Cooper, David, Zhou, Yaoqi and Liu, Yunlong 2014. Impact of human pathogenic micro-insertions and micro-deletions on post-transcriptional regulation. Human Molecular Genetics 23 (11) , pp. 3024-3034. 10.1093/hmg/ddu019

Kampourakis, Kostas, Vayena, Effy, Mitropoulou, Christina, van Schaik, Ron H., Cooper, David Neil, Borg, Joseph and Patrinos, George P. 2014. Key challenges for next-generation pharmacogenomics. Embo Reports 15 (5) , pp. 472-476. 10.1002/embr.201438641

Das, Jishnu, Lee, Hao Ran, Sagar, Adithya, Fragoza, Robert, Liang, Jin, Wei, Xiaomu, Wang, Xiujuan, Mort, Matthew, Stenson, Peter, Cooper, David Neil and Yu, Haiyuan 2014. Elucidating common structural features of human pathogenic variations using large-scale atomic-resolution protein networks. Human Mutation 35 (5) , pp. 585-593. 10.1002/humu.22534

Schwarz, Jana Marie, Cooper, David Neil, Schuelke, Markus and Seelow, Dominik 2014. MutationTaster2: mutation prediction for the deep-sequencing age [Letter]. Nature Methods 11 (4) , pp. 361-362. 10.1038/nmeth.2890

Horan, Martin P. and Cooper, David Neil 2014. The emergence of the mitochondrial genome as a partial regulator of nuclear function is providing new insights into the genetic mechanisms underlying age-related complex disease. Human Genetics 133 (4) , pp. 435-458. 10.1007/s00439-013-1402-4

Mussotter, Tanja, Bengesser, Kathrin, Högel, Josef, Cooper, David Neil and Kehrer-Sawatzki, Hildegard 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

Bacolla, Albino, Cooper, David Neil and Vasquez, Karen M. 2014. Mechanisms of base substitution mutagenesis in cancer genomes. Genes 5 (1) , pp. 108-146. 10.3390/genes5010108

Chen, Jian-Min, Cooper, David Neil and Férec, Claude 2014. A new and more accurate estimate of the rate of concurrent tandem-base substitution mutations in the human germline: ~0.4% of the single-nucleotide substitution mutation rate. Human Mutation 35 (3) , pp. 392-394. 10.1002/humu.22501

Mai, Yuan, Mitropoulou, Christina, Papadopoulou, Xanthi E., Vozikis, Athanassios, Cooper, David Neil, van Schaik, Ron H. and Patrinos, George 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

Mort, Matthew, Sterne-Weiler, Timothy, Li, Biao, Ball, Edward, Cooper, David, Radivojac, Predrag, Sanford, Jeremy R. and Mooney, Sean D. 2014. MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing. Genome Biology 15 (1) , R19. 10.1186/gb-2014-15-1-r19

Stenson, Peter, Mort, Matthew, Ball, Edward, Shaw, Katy, Phillips, Andrew and Cooper, David 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

Zain, Shamsul Mohd, Mohamed, Rosmawati, Cooper, David Neil, Razali, Rozaimi, Rampal, Sanjay, Mahadeva, Sanjiv, Chan, Wah-Kheong, Anwar, Arif, Rosli, Nurul Shielawati Mohamed, Mahfudz, Anis Shafina, Cheah, Phaik-Leng, Basu, Roma Choudhury and Mohamed, Zahurin 2014. Genome-wide analysis of copy number variation identifies candidate gene loci associated with the progression of non-alcoholic fatty liver disease. PLoS ONE 9 (4) , e95604. 10.1371/journal.pone.0095604

Cooper, David Neil, Brand, Angela, Dolzan, Vita, Fortina, Paolo, Innocenti, Federico, Lee, Ming Ta Michael, Macek, Milan, Al-Mulla, Fahd, Prainsack, Barbara, Squassina, Alessio, Vayena, Effy, Vozikis, Athanassios, Williams, Marc S. and Patrinos, George P. 2014. Bridging genomics research between developed and developing countries: the Genomic Medicine Alliance. Personalized Medicine 11 (7) , pp. 615-623. 10.2217/pme.14.59

Bengesser, Kathrin, Vogt, Julia, Mussotter, Tanja, Mautner, Victor-Felix, Messiaen, Ludwine, Cooper, David Neil and Kehrer-Sawatzki, Hildegard 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

Bagchi, Angshuman, Mort, Matthew, Li, Biao, Xin, Fuxiao, Carlise, Carson, Oron, Tal, Powell, Corey, Youn, Eunseog, Radivojac, Predrag, Cooper, David Neil and Mooney, Sean D. 2013. Analysis of features from protein-protein hetero-complex structures to predict protein interaction interfaces using machine learning. Procedia Technology 10 , pp. 62-66. 10.1016/j.protcy.2013.12.337

Gonsalves, S., Ng, D., Johnston, J., Teer, J., Stenson, Peter Daniel, Cooper, David Neil, Mullikin, J. and Biesecker, L. 2013. Using exome data to identify malignant hyperthermia susceptibility mutations. Anesthesiology 119 (5) , pp. 1043-1053. 10.1097/ALN.0b013e3182a8a8e7

Niknafs, Noushin, Kim, Dewey, Kim, Ryang Guk, Diekhans, Mark, Ryan, Michael, Stenson, Peter Daniel, Cooper, David Neil and Karchin, Rachel 2013. MuPIT interactive: webserver for mapping variant positions to annotated, interactive 3D structures. Human Genetics 132 (11) , pp. 1235-1243. 10.1007/s00439-013-1325-0

Khurana, E., Fu, Y., Colonna, V., Mu, X. J., Kang, H. M., Lappalainen, T., Sboner, A., Lochovsky, L., Chen, J., Harmanci, A., Das, J., Abyzov, A., Balasubramanian, S., Beal, K., Chakravarty, D., Challis, D., Chen, Y., Clarke, D., Clarke, L., Cunningham, F., Evani, U. S., Flicek, P., Fragoza, R., Garrison, E., Gibbs, R., Gumus, Z. H., Herrero, J., Kitabayashi, N., Kong, Y., Lage, K., Liluashvili, V., Lipkin, S. M., MacArthur, D. G., Marth, G., Muzny, D., Pers, T. H., Ritchie, G. R. S., Rosenfeld, J. A., Sisu, C., Wei, X., Wilson, M., Xue, Y., Yu, F., Dermitzakis, E. T., Yu, H., Rubin, M. A., Tyler-Smith, C., Gerstein, M., Cooper, David Neil and 1000 Genomes Project Consortium, 2013. Integrative annotation of variants from 1092 humans: application to cancer genomics. Science 342 (6154) , 1235587. 10.1126/science.1235587

Cooper, David Neil, Krawczak, Michael, Polychronakos, Constantin, Tyler-Smith, Chris and Kehrer-Sawatzki, Hildegard 2013. Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease. Human Genetics 132 (10) , pp. 1077-1130. 10.1007/s00439-013-1331-2

Regis, Stefano, Corsolini, Fabio, Grossi, Serena, Tappino, Barbara, Cooper, David Neal and Filocamo, Mirella 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) , e73633.. 10.1371/journal.pone.0073633

Bacolla, Albino, Temiz, Nuri A., Yi, M., Ivanic, Joseph, Cer, Regina Z., Donohue, Duncan E., Ball, Edward, Mudunuri, Uma S., Wang, Guliang, Jain, Aklank, Volfovsky, Natalia, Luke, Brian T., Stephens, Robert M., Cooper, David Neil, Collins, Jack R. and Vasquez, Karen M. 2013. Guanine holes are prominent targets for mutation in cancer and inherited disease. PLOS Genetics 9 (9) , e1003816. 10.1371/journal.pgen.1003816

Masson, Emmanuelle, Chen, Jian-Min, Audrezet, Marie-Pierre, Cooper, David Neil and Ferec, Claude 2013. A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients. Plos One 8 (8) , e73522.. 10.1371/journal.pone.0073522

Hamby, Stephen E., Reviriego, Pablo, Cooper, David Neil, Upadhyaya, Meena and Chuzhanova, Nadia 2013. Screening in silico predicted remotely acting NF1 gene regulatory elements for mutations in patients with neurofibromatosis type 1. Human Genomics 7 , 18. 10.1186/1479-7364-7-18

Ng, David, Johnston, Jennifer J., Teer, Jamie K., Singh, Larry N., Peller, Lindsey C., Wynter, Jamila S., Lewis, Katie L., Cooper, David Neil, Stenson, Peter D., Mullikin, James C. and Biesecker, Leslie G. 2013. Interpreting secondary cardiac disease variants in an exome cohort. Circulation: Cardiovascular Genetics 6 (4) , pp. 337-346. 10.1161/CIRCGENETICS.113.000039

Patrinos, George P., Baker, Darrol J., Al-Mulla, Fahd, Vasiliou, Vasilis and Cooper, David Neil 2013. Genetic tests obtainable through pharmacies: the good, the bad, and the ugly. Human Genomics 7 (1) , 17. 10.1186/1479-7364-7-17

Bacolla, Albino, Cooper, David Neil and Vasquez, Karen M. 2013. DNA structure matters. Genome Medicine 5 , S1. 10.1186/gm455

Shihab, H., Gough, J., Cooper, David Neil, Day, I. and Gaunt, T. 2013. Predicting the functional consequences of cancer-associated amino acid substitutions. Bioinformatics 29 (12) , pp. 1504-1510. 10.1093/bioinformatics/btt182

Carter, Hannah, Douville, Christopher, Stenson, Peter D., Cooper, David Neil and Karchin, Rachel 2013. Identifying Mendelian disease genes with the Variant Effect Scoring Tool. BMC Genomics 14 (S3) , S3. 10.1186/1471-2164-14-S3-S3

Ku, Chee-Seng, Tan, Eng King and Cooper, David Neil 2013. From the periphery to centre stage: de novo single nucleotide variants play a key role in human genetic disease. Journal of Medical Genetics 50 (4) , pp. 203-211. 10.1136/jmedgenet-2013-101519

Ku, Chee Seng, Cooper, David Neil and Roukos, D. H. 2013. Clinical relevance of cancer genome sequencing. World Journal of Gastroenterology 19 (13) , pp. 2011-2018. 10.3748/wjg.v19.i13.2011

Douville, C., Carter, H., Kim, R., Niknafs, N., Diekhans, M., Stenson, Peter Daniel, Cooper, David Neil, Ryan, M. and Karchin, R. 2013. CRAVAT: cancer-related analysis of variants toolkit. Bioinformatics 29 (5) , pp. 647-648. 10.1093/bioinformatics/btt017

Chen, Jian-Min, Cooper, David Neil and Férec, Claude 2013. Trypsinogen genes: insights into molecular evolution from the study of pathogenic mutations. eLS, Wiley-Blackwell, (10.1002/9780470015902.a0006140.pub3)

Ng, Hong Kiat, Ku, Chee-Seng, Cooper, David Neil and Soong, Richie 2013. Clinical relevance of miRNAs in cancer. In: Roukos, Dimitrios H. ed. Next-Generation Sequencing & Molecular Diagnostics, Future Medicine Ltd, pp. 42-62. (10.2217/ebo.12.131)

Ku, Chee-Seng and Cooper, David Neil 2013. Next-generation sequencing in cancer research & diagnostics. In: Roukos, Dimitrios H. ed. Next-Generation Sequencing & Molecular Diagnostics, Future Medicine Ltd, pp. 20-40. (10.2217/ebo.12.46)

Ferri, Lorenzo, Donati, Maria Alice, Funghini, Silvia, Malvagia, Sabrina, Catarzi, Serena, Lugli, Licia, Ragni, Luca, Bertini, Enrico, Vaz, Frederic M., Cooper, David Neil, Guerrini, Renzo and Morrone, Amelia 2013. New clinical and molecular insights on Barth syndrome. Orphanet Journal of Rare Diseases 8 , 27. 10.1186/1750-1172-8-27

Ku, Chee S., Cooper, David Neil, E. Ziogas, Demosthenes, Halkia, Eugenia, Tzaphlidou, Margaret and Roukos, Dimitrios 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

Chen, Jian-Min, Fichou, Yann, Jamet, Déborah, Dupont, Isabelle, Cooper, David Neil, Le Maréchal, Cédric and Férec, Claude 2013. Small deletions within the RHD coding sequence: a report of two novel mutational events and a survey of the underlying pathophysiologic mechanisms. Transfusion 53 (1) , pp. 206-210. 10.1111/j.1537-2995.2012.03713.x

Ku, C., Cooper, David Neil, Iacopetta, B. and Roukos, D. 2013. Integrating next-generation sequencing into the diagnostic testing of inherited cancer predisposition. Clinical Genetics 83 (1) , pp. 2-6. 10.1111/cge.12028

Zhao, Huiying, Yang, Yuedong, Lin, Hai, Zhang, Xinjun, Mort, Matthew, Cooper, David Neil, Liu, Yunlong and Zhou, Yaoqi 2013. DDIG-in: discriminating between disease-associated and neutral non-frameshifting micro-indels. Genome Biology 14 (3) , R23. 10.1186/gb-2013-14-3-r23.

Upadhyaya, Meena and Cooper, David Neil, eds. 2013. Neurofibromatosis Type 1: molecular and cellular biology. Heidelberg: Springer Verlag. 10.1007/978-3-642-32864-0

Antonarakis, Stylianos E. and Cooper, David Neil 2013. Human gene mutation in inherited disease: Molecular mechanisms and clinical consequences. In: Rimoin, David L., Pyeritz, Reed E. and Korf, Bruce 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 S, Polychronakos, C, Tan, E K, Naidoo, N, Pawitan, Y, Roukos, D H, Mort, Matthew Edwin and Cooper, David Neil 2013. A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease. Molecular Psychiatry 18 (2) , pp. 141-153. 10.1038/mp.2012.58

Ku, Chee-Seng, Pawitan, Yudi, Wu, Mengchu, Roukos, Dimitrios H. and Cooper, David 2013. The evolution of high-throughput sequencing technologies: from Sanger to single-molecule sequencing. In: Wu, Wei and Choudhry, Hani 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)

Shihab, Hashem A., Gough, Julian, Cooper, David Neil, Stenson, Peter Daniel, Barker, Gary L. A., Edwards, Keith J., Day, Ian N. M. and Gaunt, Tom R. 2013. Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models. Human Mutation 34 (1) , pp. 57-65. 10.1002/humu.22225

Chen, Jian-Min, Férec, Claude and Cooper, David Neil 2013. Patterns and mutational signatures of tandem base substitutions causing human inherited disease. Human Mutation 34 (8) , pp. 1119-1130. 10.1002/humu.22341

Ku, Chee-Seng, Vasiliou, Vasilis and Cooper, David Neil 2012. A new era in the discovery of de novo mutations underlying human genetic disease. Human Genomics 6 , 27. 10.1186/1479-7364-6-27

Xue, Yali, Chen, Yuan, Ayub, Qasim, Huang, Ni, Ball, Edward V., Mort, Matthew, Phillips, Andrew D., Shaw, Katy, Stenson, Peter D., Cooper, David Neil and Tyler-Smith, Chris 2012. Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing. American Journal of Human Genetics 91 (6) , pp. 1022-1032. 10.1016/j.ajhg.2012.10.015

Thomas, Laura, Richards, Mark, Mort, Matthew Edwin, Dunlop, Elaine A., Cooper, David Neil and Upadhyaya, Meena 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

Sedani, Ashni, Cooper, David Neil and Upadhyaya, Meena 2012. An emerging role for microRNAs in NF1 tumorigenesis. Human Genomics 6 , 23. 10.1186/1479-7364-6-23

Upadhyaya, Meena and Cooper, David Neil 2012. Somatic copy number alterations: Gene and protein expression correlates in NF1-associated malignant peripheral nerve sheath tumors. In: Upadhyaya, Meena and Cooper, David Neil eds. Neurofibromatosis Type 1: Molecular and Cellular Biology, Springer, pp. 405-428. (10.1007/978-3-642-32864-0_27)

Cooper, David Neil and Upadhyaya, Meena 2012. The germline mutational spectrum in neurofibromatosis type 1 and genotype-phenotype correlations. In: Upadhyaya, Meena and Cooper, David Neil eds. Neurofibromatosis Type 1: Molecular and Cellular Biology, Springer, pp. 115-134. (10.1007/978-3-642-32864-0_10)

Patrinos, George P., Cooper, David Neil, van Mulligen, Erik, Gkantouna, Vassiliki, Tzimas, Giannis, Tatum, Zuotian, Schultes, Erik, Roos, Marco and Mons, Barend 2012. Microattribution and nanopublication as means to incentivize the placement of human genome variation data into the public domain. Human Mutation 33 (11) , pp. 1503-1512. 10.1002/humu.22144

Vogt, Julia, Mussotter, Tanja, Bengesser, Kathrin, Claes, Kathleen, Högel, Josef, Chuzhanova, Nadia, Fu, Chuanhua, van den Ende, Jenneke, Mautner, Victor-Felix, Cooper, David Neil, Messiaen, Ludwine and Kehrer-Sawatzki, Hildegard 2012. Identification of recurrent type-2NF1microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder. Human Mutation 33 (11) , pp. 1599-1609. 10.1002/humu.22171

Mussotter, Tanja, Kluwe, Lan, Hoegel, Josef, Nguyen, Rosa, Cooper, David Neil, Mautner, Victor-Felix and Kehrer-Sawatzki, Hildegard 2012. Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletions. BMC Medical Genetics 13 , 98. 10.1186/1471-2350-13-98

Krawczak, Michael, Cooper, David Neil, Fändrich, Fred, Engel, Wolfgang and Schmidtke, Jörg 2012. How to distinguish genetically between an alleged father and his monozygotic twin: a thought experiment [Letter]. Forensic Science International: Genetics 6 (5) , e129-e130. 10.1016/j.fsigen.2011.11.003

Stenson, Peter Daniel, Ball, Edward Vincent, Mort, Matthew Edwin, Phillips, Andrew David, Shaw, Katy and Cooper, David Neil 2012. The human gene mutation database (HGMD) and its exploitation in the fields of personalized genomics and molecular evolution. Current Protocols in Bioinformatics 39 , 1.13.1-1.13.20. 10.1002/0471250953.bi0113s39

Alkindy, Adila, Chuzhanova, Nadia, Kini, Usha, Cooper, David Neil and Upadhyaya, Meena 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 , 12. 10.1186/1479-7364-6-12

Chen, Jian-Min, Cooper, David Neil and Ferec, Claude 2012. Local sequence determinants of two in-frame triplet deletion/duplication hotspots in the RHD/RHCE genes. Human Genomics 6 , 8. 10.1186/1479-7364-6-8

Kehrer-Sawatzki, Hildegard, Vogt, Julia, Mußotter, Tanja, Kluwe, Lan, Cooper, David Neil and Mautner, Victor-Felix 2012. Dissecting the clinical phenotype associated with mosaic type-2 NF1 microdeletions. Neurogenetics 13 (3) , pp. 229-236. 10.1007/s10048-012-0332-y

Ku, Chee-Seng, Cooper, David Neil, Wu, Mengchu, Roukos, Dimitrios H., Pawitan, Yudi, Soong, Richie and Iacopetta, Barry 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, Laura, Mautner, Victor-Felix, Cooper, David Neil and Upadhyaya, Meena 2012. Molecular heterogeneity in malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1. Human Genomics 6 , 18. 10.1186/1479-7364-6-18

Qiu, Qiang, Zhang, Guojie, Ma, Tao, Qian, Wubin, Wang, Junyi, Ye, Zhiqiang, Cao, Changchang, Hu, Quanjun, Kim, Jaebum, Larkin, Denis M., Auvil, Loretta, Capitanu, Boris, Ma, Jian, Lewin, Harris A., Qian, Xiaoju, Lang, Yongshan, Zhou, Ran, Wang, Lizhong, Wang, Kun, Xia, Jinquan, Liao, Shengguang, Pan, Shengkai, Lu, Xu, Hou, Haolong, Wang, Yan, Zang, Xuetao, Yin, Ye, Ma, Hui, Zhang, Jian, Wang, Zhaofeng, Zhang, Yingmei, Zhang, Dawei, Yonezawa, Takahiro, Hasegawa, Masami, Zhong, Yang, Liu, Wenbin, Zhang, Yan, Huang, Zhiyong, Zhang, Shengxiang, Long, Ruijun, Yang, Huanming, Wang, Jian, Lenstra, Johannes A., Cooper, David Neil, Wu, Yi, Wang, Jun, Shi, Peng, Wang, Jian and Liu, Jianquan 2012. The yak genome and adaptation to life at high altitude [Letter]. Nature Genetics 44 (8) , pp. 946-949. 10.1038/ng.2343

Teng, Mingxiang, Ichikawa, Shoji, Padgett, Leah R., Wang, Yadong, Mort, Matthew Edwin, Cooper, David Neil, Koller, Daniel L., Foroud, Tatiana, Edenberg, Howard J., Econs, Michael J. and Liu, Yunlong 2012. regSNPs: a strategy for prioritizing regulatory single nucleotide substitutions. Bioinformatics 28 (14) , pp. 1879-1886. 10.1093/bioinformatics/bts275

Ku, Chee-Seng, Cooper, David Neil and Roukos, Dimitrios 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

Clarke, Laura, Zheng-Bradley, Xiangqun, Smith, Richard, Kulesha, Eugene, Xiao, Chunlin, Toneva, Iliana, Vaughan, Brendan, Preuss, Don, Leinonen, Rasko, Shumway, Martin, Sherry, Stephen, Flicek, Paul, Cooper, David Neil and The 1000 Genomes Project Consortium, 2012. The 1000 Genomes Project: data management and community access. Nature Methods 9 (5) , pp. 459-462. 10.1038/nmeth.1974

Upadhyaya, Meena, Spurlock, Gillian, Thomas, Laura, Thomas, Nicholas Stuart Tudor, Richards, Mark, Mautner, Viktor-Felix, Cooper, David Neil, Guha, Abhijit and Yan, Jim 2012. Microarray-based copy number analysis of neurofibromatosis type-1 (NF1)-associated malignant peripheral nerve sheath tumors reveals a role for Rho-GTPase pathway genes in NF1 tumorigenesis. Human Mutation 33 (4) , pp. 763-776. 10.1002/humu.22044

Ku, Chee-Seng and Cooper, David Neil 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

Ku, Chee-Seng, Wu, Mengchu, Cooper, David Neil, Naidoo, Nasheen, Pawitan, Yudi, Pang, Brendan, Iacopetta, Barry and Soong, Richie 2012. Exome versus transcriptome sequencing in identifying coding region variants. Expert Review of Molecular Diagnostics 12 (3) , pp. 241-251. 10.1586/erm.12.10

Scally, Aylwyn, Dutheil, Julien Y., Hillier, LaDeana W., Jordan, Gregory E., Goodhead, Ian, Herrero, Javier, Hobolth, Asger, Lappalainen, Tuuli, Mailund, Thomas, Marques-Bonet, Tomas, McCarthy, Shane, Montgomery, Stephen H., Schwalie, Petra C., Tang, Y. Amy, Ward, Michelle C., Xue, Yali, Yngvadottir, Bryndis, Alkan, Can, Andersen, Lars N., Ayub, Qasim, Ball, Edward Vincent, Beal, Kathryn, Bradley, Brenda J., Chen, Yuan, Clee, Chris M., Fitzgerald, Stephen, Graves, Tina A., Gu, Yong, Heath, Paul, Heger, Andreas, Karakoc, Emre, Kolb-Kokocinski, Anja, Laird, Gavin K., Lunter, Gerton, Meader, Stephen, Mort, Matthew Edwin, Mullikin, James C., Munch, Kasper, O'Connor, Timothy D., Phillips, Andrew David, Prado-Martinez, Javier, Rogers, Anthony S., Sajjadian, Saba, Schmidt, Dominic, Shaw, Katy, Simpson, Jared T., Stenson, Peter Daniel, Turner, Daniel J., Vigilant, Linda, Vilella, Albert J., Whitener, Weldon, Zhu, Baoli, Cooper, David Neil, de Jong, Pieter, Dermitzakis, Emmanouil T., Eichler, Evan E., Flicek, Paul, Goldman, Nick, Mundy, Nicholas I., Ning, Zemin, Odom, Duncan T., Ponting, Chris P., Quail, Michael A., Ryder, Oliver A., Searle, Stephen M., Warren, Wesley C., Wilson, Richard K., Schierup, Mikkel H., Rogers, Jane, Tyler-Smith, Chris and Durbin, Richard 2012. Insights into hominid evolution from the gorilla genome sequence. Nature 483 (7388) , pp. 169-175. 10.1038/nature10842

Ku, Chee-Seng, Wu, Mengchu, Cooper, David Neil, Naidoo, Nasheen, Pawitan, Yudi, Pang, Brendan, Iacopetta, Barry and Soong, Richie 2012. Technological advances in DNA sequence enrichment and sequencing for germline genetic diagnosis. Expert Review of Molecular Diagnostics 12 (2) , pp. 159-173. 10.1586/erm.11.95

Pavlidis, Cristiana, Karamitri, Angeliki, Barakou, Aglaia, Cooper, David Neil, Poulas, Konstantinos, Topouzis, Stavros and Patrinos, George 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, Daniel G., Balasubramanian, Suganthi, Frankish, Adam, Huang, Ni, Morris, James, Walter, Klaudia, Jostins, Luke, Habegger, Lukas, Pickrell, Joseph K., Montgomery, Stephen B., Albers, Cornelis A., Zhang, Zhengdong D., Conrad, Donald F., Lunter, Gerton, Zheng, Hancheng, Ayub, Qasim, DePristo, Mark A., Banks, Eric, Hu, Min, Handsaker, Robert E., Rosenfeld, Jeffrey A., Fromer, Menachem, Jin, Mike, Mu, Xinmeng Jasmine, Khurana, Ekta, Ye, Kai, Kay, Mike, Saunders, Gary Ian, Suner, Marie-Marthe, Hunt, Toby, Barnes, If H. A., Amid, Clara, Carvalho-Silva, Denise R., Bignell, Alexandra H., Snow, Catherine, Yngvadottir, Bryndis, Bumpstead, Suzannah, Cooper, David Neil, Xue, Yali, Romero, Irene Gallego, Wang, Jun, Li, Yingrui, Gibbs, Richard A., McCarroll, Steven A., Dermitzakis, Emmanouil T., Pritchard, Jonathan K., Barrett, Jeffrey C., Harrow, Jennifer, Hurles, Matthew E., Gerstein, Mark B. and Tyler-Smith, Chris 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, Chee-Seng, Cooper, David Neil, Polychronakos, Constantin, Naidoo, Nasheen, Wu, Mengchu and Soong, Richie 2012. Exome sequencing: Dual role as a discovery and diagnostic tool. Annals of Neurology 71 (1) , pp. 5-14. 10.1002/ana.22647

McVean, Gil A., Altshuler (Co-Chair), David M., Durbin (Co-Chair), Richard M., Abecasis, Gonçalo R., Bentley, David R., Chakravarti, Aravinda, Clark, Andrew G., Donnelly, Peter, Eichler, Evan E., Flicek, Paul, Gabriel, Stacey B., Gibbs, Richard A., Green, Eric D., Hurles, Matthew E., Knoppers, Bartha M., Korbel, Jan O., Lander, Eric S., Lee, Charles, Lehrach, Hans, Mardis, Elaine R., Marth, Gabor T., McVean, Gil A., Nickerson, Deborah A., Schmidt, Jeanette P., Sherry, Stephen T., Wang, Jun, Wilson, Richard K., Gibbs (Principal Investigator), Richard A., Dinh, Huyen, Kovar, Christie, Lee, Sandra, Lewis, Lora, Muzny, Donna, Reid, Jeff, Wang, Min, Wang (Principal Investigator), Jun, Fang, Xiaodong, Guo, Xiaosen, Jian, Min, Jiang, Hui, Jin, Xin, Li, Guoqing, Li, Jingxiang, Li, Yingrui, Li, Zhuo, Liu, Xiao, Lu, Yao, Ma, Xuedi, Su, Zhe, Tai, Shuaishuai, Tang, Meifang, Wang, Bo, Wang, Guangbiao, Wu, Honglong, Wu, Renhua, Yin, Ye, Zhang, Wenwei, Zhao, Jiao, Zhao, Meiru, Zheng, Xiaole, Zhou, Yan, Lander (Principal Investigator), Eric S., Altshuler, David M., Gabriel (Co-Chair), Stacey B., Gupta, Namrata, Flicek (Principal Investigator), Paul, Clarke, Laura, Leinonen, Rasko, Smith, Richard E., Zheng-Bradley, Xiangqun, Bentley (Principal Investigator), David R., Grocock, Russell, Humphray, Sean, James, Terena, Kingsbury, Zoya, Lehrach (Principal Investigator), Hans, Sudbrak (Project Leader), Ralf, Albrecht, Marcus W., Amstislavskiy, Vyacheslav S., Borodina, Tatiana A., Lienhard, Matthias, Mertes, Florian, Sultan, Marc, Timmermann, Bernd, Yaspo, Marie-Laure, Sherry (Principal Investigator), Stephen T., McVean (Principal Investigator), Gil A., Mardis (Co-Principal Investigator) (Co-Chair), Elaine R., Wilson (Co-Principal Investigator), Richard K., Fulton, Lucinda, Fulton, Robert, Weinstock, George M., Durbin (Principal Investigator), Richard M., Balasubramaniam, Senduran, Burton, John, Danecek, Petr, Keane, Thomas M., Kolb-Kokocinski, Anja, McCarthy, Shane, Stalker, James, Quail, Michael, Schmidt (Principal Investigator), Jeanette P., Davies, Christopher J., Gollub, Jeremy, Webster, Teresa, Wong, Brant, Zhan, Yiping, Auton (Principal Investigator), Adam, Gibbs (Principal Investigator), Richard A., Yu (Project Leader), Fuli, Bainbridge, Matthew, Challis, Danny, Evani, Uday S., Lu, James, Muzny, Donna, Nagaswamy, Uma, Reid, Jeff, Sabo, Aniko, Wang, Yi, Yu, Jin, Wang (Principal Investigator), Jun, Coin, Lachlan J. M., Fang, Lin, Guo, Xiaosen, Jin, Xin, Li, Guoqing, Li, Qibin, Li, Yingrui, Li, Zhenyu, Lin, Haoxiang, Liu, Binghang, Luo, Ruibang, Qin, Nan, Shao, Haojing, Wang, Bingqiang, Xie, Yinlong, Ye, Chen, Yu, Chang, Zhang, Fan, Zheng, Hancheng, Zhu, Hongmei, Marth (Principal Investigator), Gabor T., Garrison, Erik P., Kural, Deniz, Lee, Wan-Ping, Fung Leong, Wen, Ward, Alistair N., Wu, Jiantao, Zhang, Mengyao, Lee (Principal Investigator), Charles, Griffin, Lauren, Hsieh, Chih-Heng, Mills, Ryan E., Shi, Xinghua, von Grotthuss, Marcin, Zhang, Chengsheng, Daly (Principal Investigator), Mark J., DePristo (Project Leader), Mark A., Altshuler, David M., Banks, Eric, Bhatia, Gaurav, Carneiro, Mauricio O., del Angel, Guillermo, Gabriel, Stacey B., Genovese, Giulio, Gupta, Namrata, Handsaker, Robert E., Hartl, Chris, Lander, Eric S., McCarroll, Steven A., Nemesh, James C., Poplin, Ryan E., Schaffner, Stephen F., Shakir, Khalid, Yoon (Principal Investigator), Seungtai C., Lihm, Jayon, Makarov, Vladimir, Jin (Principal Investigator), Hanjun, Kim, Wook, Cheol Kim, Ki, Korbel (Principal Investigator), Jan O., Rausch, Tobias, Flicek (Principal Investigator), Paul, Beal, Kathryn, Clarke, Laura, Cunningham, Fiona, Herrero, Javier, McLaren, William M., Ritchie, Graham R. S., Smith, Richard E., Zheng-Bradley, Xiangqun, Clark (Principal Investigator), Andrew G., Gottipati, Srikanth, Keinan, Alon, Rodriguez-Flores, Juan L., Sabeti (Principal Investigator), Pardis C., Grossman, Sharon R., Tabrizi, Shervin, Tariyal, Ridhi, Cooper Principal Investigator), David Neil, Ball, Edward V., Stenson, Peter, Bentley (Principal Investigator), David R., Barnes, Bret, Bauer, Markus, Keira Cheetham, R., Cox, Tony, Eberle, Michael, Humphray, Sean, Kahn, Scott, Murray, Lisa, Peden, John, Shaw, Richard, Ye (Principal Investigator), Kai, Batzer (Principal Investigator), Mark A., Konkel, Miriam K., Walker, Jerilyn A., MacArthur (Principal Investigator), Daniel G., Lek, Monkol, Sudbrak (Project Leader), I., Amstislavskiy, Vyacheslav S., Herwig, Ralf, Shriver (Principal Investigator), Mark D., Bustamante (Principal Investigator), Carlos D., Byrnes, Jake K., De La Vega, Francisco M., Gravel, Simon, Kenny, Eimear E., Kidd, Jeffrey M., Lacroute, Phil, Maples, Brian K., Moreno-Estrada, Andres, Zakharia, Fouad, Halperin (Principal Investigator), Eran, Baran, Yael, Craig (Principal Investigator), David W., Christoforides, Alexis, Homer, Nils, Izatt, Tyler, Kurdoglu, Ahmet A., Sinari, Shripad A., Squire, Kevin, Sherry (Principal Investigator), Stephen T., Xiao, Chunlin, Sebat (Principal Investigator), Jonathan, Bafna, Vineet, Ye, Kenny, Burchard (Principal Investigator), Esteban G., Hernandez (Principal Investigator), Ryan D., Gignoux, Christopher R., Haussler (Principal Investigator), David, Katzman, Sol J., James Kent, W., Howie, Bryan, Ruiz-Linares (Principal Investigator), Andres, Dermitzakis (Principal Investigator), Emmanouil T., Lappalainen, Tuuli, Devine (Principal Investigator), Scott E., Liu, Xinyue, Maroo, Ankit, Tallon, Luke J., Rosenfeld (Principal Investigator), Jeffrey A., Michelson, Leslie P., Abecasis (Principal Investigator) (Co-Chair), Gonçalo R., Min Kang (Project Leader), Hyun, Anderson, Paul, Angius, Andrea, Bigham, Abigail, Blackwell, Tom, Busonero, Fabio, Cucca, Francesco, Fuchsberger, Christian, Jones, Chris, Jun, Goo, Li, Yun, Lyons, Robert, Maschio, Andrea, Porcu, Eleonora, Reinier, Fred, Sanna, Serena, Schlessinger, David, Sidore, Carlo, Tan, Adrian, Kate Trost, Mary, Awadalla (Principal Investigator), Philip, Hodgkinson, Alan, Lunter (Principal Investigator), Gerton, McVean (Principal Investigator) (Co-Chair), Gil A., Marchini (Principal Investigator), Jonathan L., Myers (Principal Investigator), Simon, Churchhouse, Claire, Delaneau, Olivier, Gupta-Hinch, Anjali, Iqbal, Zamin, Mathieson, Iain, Rimmer, Andy, Xifara, Dionysia K., Oleksyk (Principal Investigator), Taras K., Fu (Principal Investigator), Yunxin, Liu, Xiaoming, Xiong, Momiao, Jorde (Principal Investigator), Lynn, Witherspoon, David, Xing, Jinchuan, Eichler (Principal Investigator), Evan E., Browning (Principal Investigator), Brian L., Alkan, Can, Hajirasouliha, Iman, Hormozdiari, Fereydoun, Ko, Arthur, Sudmant, Peter H., Mardis (Co-Principal Investigator), Elaine R., Chen, Ken, Chinwalla, Asif, Ding, Li, Dooling, David, Koboldt, Daniel C., McLellan, Michael D., Wallis, John W., Wendl, Michael C., Zhang, Qunyuan, Durbin (Principal Investigator), Richard M., Hurles (Principal Investigator), Matthew E., Albers, Cornelis A., Ayub, Qasim, Balasubramaniam, Senduran, Chen, Yuan, Coffey, Alison J., Colonna, Vincenza, Danecek, Petr, Huang, Ni, Jostins, Luke, Keane, Thomas M., Li, Heng, McCarthy, Shane, Scally, Aylwyn, Stalker, James, Walter, Klaudia, Xue, Yali, Zhang, Yujun, Gerstein (Principal Investigator), Mark B., Abyzov, Alexej, Balasubramanian, Suganthi, Chen, Jieming, Clarke, Declan, Fu, Yao, Habegger, Lukas, Harmanci, Arif O., Jin, Mike, Khurana, Ekta, Jasmine Mu, Xinmeng, Sisu, Cristina, Li, Yingrui, Luo, Ruibang, Zhu, Hongmei, Lee (Principal Investigator) (Co-Chair), Charles, Griffin, Lauren, Hsieh, Chih-Heng, Mills, Ryan E., Shi, Xinghua, von Grotthuss, Marcin, Zhang, Chengsheng, Marth (Principal Investigator), Gabor T., Garrison, Erik P., Kural, Deniz, Lee, Wan-Ping, Ward, Alistair N., Wu, Jiantao, Zhang, Mengyao, McCarroll (Project Leader), Steven A., Altshuler, David M., Banks, Eric, del Angel, Guillermo, Genovese, Giulio, Handsaker, Robert E., Hartl, Chris, Nemesh, James C., Shakir, Khalid, Yoon (Principal Investigator), Seungtai C., Lihm, Jayon, Makarov, Vladimir, Degenhardt, Jeremiah, Flicek (Principal Investigator), Paul, Clarke, Laura, Smith, Richard E., Zheng-Bradley, Xiangqun, Korbel (Principal Investigator) (Co-Chair), Jan O., Rausch, Tobias, Stütz, Adrian M., Bentley (Principal Investigator), David R., Barnes, Bret, Keira Cheetham, R., Eberle, Michael, Humphray, Sean, Kahn, Scott, Murray, Lisa, Shaw, Richard, Ye (Principal Investigator), Kai, Batzer (Principal Investigator), Mark A., Konkel, Miriam K., Walker, Jerilyn A., Lacroute, Phil, Craig (Principal Investigator), David W., Homer, Nils, Church, Deanna, Xiao, Chunlin, Sebat (Principal Investigator), Jonathan, Bafna, Vineet, Michaelson, Jacob J., Ye, Kenny, Devine (Principal Investigator), Scott E., Liu, Xinyue, Maroo, Ankit, Tallon, Luke J., Lunter (Principal Investigator), Gerton, McVean (Principal Investigator), Gil A., Iqbal, Zamin, Witherspoon, David, Xing, Jinchuan, Eichler (Principal Investigator) (Co-Chair), Evan E., Alkan, Can, Hajirasouliha, Iman, Hormozdiari, Fereydoun, Ko, Arthur, Sudmant, Peter H., Chen, Ken, Chinwalla, Asif, Ding, Li, McLellan, Michael D., Wallis, John W., Hurles (Principal Investigator) (Co-Chair), Matthew E., Blackburne, Ben, Li, Heng, Lindsay, Sarah J., Ning, Zemin, Scally, Aylwyn, Walter, Klaudia, Zhang, Yujun, Gerstein (Principal Investigator), Mark B., Abyzov, Alexej, Chen, Jieming, Clarke, Declan, Khurana, Ekta, Jasmine Mu, Xinmeng, Sisu, Cristina, Gibbs (Principal Investigator) (Co-Chair), Richard A., Yu (Project Leader), Fuli, Bainbridge, Matthew, Challis, Danny, Evani, Uday S., Kovar, Christie, Lewis, Lora, Lu, James, Muzny, Donna, Nagaswamy, Uma, Reid, Jeff, Sabo, Aniko, Yu, Jin, Guo, Xiaosen, Li, Yingrui, Wu, Renhua, Marth (Principal Investigator) (Co-Chair), Gabor T., Garrison, Erik P., Fung Leong, Wen, Ward, Alistair N., del Angel, Guillermo, DePristo, Mark A., Gabriel, Stacey B., Gupta, Namrata, Hartl, Chris, Poplin, Ryan E., Clark (Principal Investigator), Andrew G., Rodriguez-Flores, Juan L., Flicek (Principal Investigator), Paul, Clarke, Laura, Smith, Richard E., Zheng-Bradley, Xiangqun, MacArthur (Principal Investigator), Daniel G., Bustamante (Principal Investigator), Carlos D., Gravel, Simon, Craig (Principal Investigator), David W., Christoforides, Alexis, Homer, Nils, Izatt, Tyler, Sherry (Principal Investigator), Stephen T., Xiao, Chunlin, Dermitzakis (Principal Investigator), Emmanouil T., Abecasis (Principal Investigator), Gonçalo R., Min Kang, Hyun, McVean (Principal Investigator), Gil A., Mardis (Principal Investigator), Elaine R., Dooling, David, Fulton, Lucinda, Fulton, Robert, Koboldt, Daniel C., Durbin (Principal Investigator), Richard M., Balasubramaniam, Senduran, Keane, Thomas M., McCarthy, Shane, Stalker, James, Gerstein (Principal Investigator), Mark B., Balasubramanian, Suganthi, Habegger, Lukas, Garrison, Erik P., Gibbs (Principal Investigator), Richard A., Bainbridge, Matthew, Muzny, Donna, Yu, Fuli, Yu, Jin, del Angel, Guillermo, Handsaker, Robert E., Makarov, Vladimir, Rodriguez-Flores, Juan L., Jin (Principal Investigator), Hanjun, Kim, Wook, Cheol Kim, Ki, Flicek (Principal Investigator), Paul, Beal, Kathryn, Clarke, Laura, Cunningham, Fiona, Herrero, Javier, McLaren, William M., Ritchie, Graham R. S., Zheng-Bradley, Xiangqun, Tabrizi, Shervin, MacArthur (Principal Investigator), Daniel G., Lek, Monkol, Bustamante (Principal Investigator), Carlos D., De La Vega, Francisco M., Craig (Principal Investigator), David W., Kurdoglu, Ahmet A., Lappalainen, Tuuli, Rosenfeld (Principal Investigator), Jeffrey A., Michelson, Leslie P., Awadalla (Principal Investigator), Philip, Hodgkinson, Alan, McVean (Principal Investigator), Gil A., Chen, Ken, Chen, Yuan, Colonna, Vincenza, Frankish, Adam, Harrow, Jennifer, Xue, Yali, Gerstein (Principal Investigator) (Co-Chair), Mark B., Abyzov, Alexej, Balasubramanian, Suganthi, Chen, Jieming, Clarke, Declan, Fu, Yao, Harmanci, Arif O., Jin, Mike, Khurana, Ekta, Jasmine Mu, Xinmeng, Sisu, Cristina, Gibbs (Principal Investigator), Richard A., Fowler, Gerald, Hale, Walker, Kalra, Divya, Kovar, Christie, Muzny, Donna, Reid, Jeff, Wang (Principal Investigator), Jun, Guo, Xiaosen, Li, Guoqing, Li, Yingrui, Zheng, Xiaole, Altshuler, David M., Flicek (Principal Investigator) (Co-Chair), Paul, Clarke (Project Leader), Laura, Barker, Jonathan, Kelman, Gavin, Kulesha, Eugene, Leinonen, Rasko, McLaren, William M., Radhakrishnan, Rajesh, Roa, Asier, Smirnov, Dmitriy, Smith, Richard E., Streeter, Ian, Toneva, Iliana, Vaughan, Brendan, Zheng-Bradley, Xiangqun, Bentley (Principal Investigator), David R., Cox, Tony, Humphray, Sean, Kahn, Scott, Sudbrak (Project Leader), Ralf, Albrecht, Marcus W., Lienhard, Matthias, Craig (Principal Investigator), David W., Izatt, Tyler, Kurdoglu, Ahmet A., Sherry (Principal Investigator) (Co-Chair), Stephen T., Ananiev, Victor, Belaia, Zinaida, Beloslyudtsev, Dimitriy, Bouk, Nathan, Chen, Chao, Church, Deanna, Cohen, Robert, Cook, Charles, Garner, John, Hefferon, Timothy, Kimelman, Mikhail, Liu, Chunlei, Lopez, John, Meric, Peter, O'Sullivan, Chris, Ostapchuk, Yuri, Phan, Lon, Ponomarov, Sergiy, Schneider, Valerie, Shekhtman, Eugene, Sirotkin, Karl, Slotta, Douglas, Xiao, Chunlin, Zhang, Hua, Haussler (Principal Investigator), David, Abecasis (Principal Investigator), Gonçalo R., McVean (Principal Investigator), Gil A., Alkan, Can, Ko, Arthur, Dooling, David, Durbin (Principal Investigator), Richard M., Balasubramaniam, Senduran, Keane, Thomas M., McCarthy, Shane, Stalker, James, Chakravarti (Co-Chair), Aravinda, Knoppers (Co-Chair), Bartha M., Abecasis, Gonçalo R., Barnes, Kathleen C., Beiswanger, Christine, Burchard, Esteban G., Bustamante, Carlos D., Cai, Hongyu, Cao, Hongzhi, Durbin, Richard M., Gharani, Neda, Gibbs, Richard A., Gignoux, Christopher R., Gravel, Simon, Henn, Brenna, Jones, Danielle, Jorde, Lynn, Kaye, Jane S., Keinan, Alon, Kent, Alastair, Kerasidou, Angeliki, Li, Yingrui, Mathias, Rasika, McVean, Gil A., Moreno-Estrada, Andres, Ossorio, Pilar N., Parker, Michael, Reich, David, Rotimi, Charles N., Royal, Charmaine D., Sandoval, Karla, Su, Yeyang, Sudbrak, Ralf, Tian, Zhongming, Timmermann, Bernd, Tishkoff, Sarah, Toji, Lorraine H., Tyler Smith, Chris, Via, Marc, Wang, Yuhong, Yang, Huanming, Yang, Ling, Zhu, Jiayong, Bodmer, Walter, Bedoya, Gabriel, Ruiz-Linares, Andres, Zhi Ming, Cai, Yang, Gao, Jia You, Chu, Peltonen, Leena, Garcia-Montero, Andres, Orfao, Alberto, Dutil, Julie, Martinez-Cruzado, Juan C., Oleksyk, Taras K., Brooks, Lisa D., Felsenfeld, Adam L., McEwen, Jean E., Clemm, Nicholas C., Duncanson, Audrey, Dunn, Michael, Green, Eric D., Guyer, Mark S., Peterson, Jane L., Abecasis, Goncalo R., Auton, Adam, Brooks, Lisa D., DePristo, Mark A., Durbin, Richard M., Handsaker, Robert E., Min Kang, Hyun, Marth, Gabor T. and McVean, Gil A. 2012. 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Cooper, David Neil and Chen, Jian-Min, eds. 2012. Mutations in human genetic disease. Shanghai: InTech.

Zickler, Antje M., Hampp, Stephanie, Messiaen, Ludwine, Bengesser, Kathrin, Mussotter, Tanja, Roehl, Angelika C., Wimmer, Katharina, Mautner, Victor-Felix, Kluwe, Lan, Upadhyaya, Meena, Pasmant, Eric, Chuzhanova, Nadia, Kestler, Hans A., Högel, Josef, Legius, Eric, Claes, Kathleen, Cooper, David Neil and Kehrer-Sawatzki, Hildegard 2012. Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 NF1 deletions. Human Mutation 33 (2) , pp. 372-383. 10.1002/humu.21644

Roehl, Angelika C., Mussotter, Tanja, Cooper, David Neil, Kluwe, Lan, Wimmer, Katharina, Högel, Josef, Zetzmann, Marion, Vogt, Julia, Mautner, Victor-Felix and Kehrer-Sawatzki, Hildegard 2012. Tissue-specific differences in the proportion of mosaic large NF1 deletions are suggestive of a selective growth advantage of hematopoietic del(+/-) stem cells. Human Mutation 33 (3) , pp. 541-550. 10.1002/humu.22013

Chen, Jian-Min, Férec, Claude and Cooper, David Neil 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

Thomas, Laura, Spurlock, Gillian, Eudall, Claire, Thomas, Nicholas Stuart Tudor, Mort, Matthew Edwin, Hamby, Stephen E., Chuzhanova, Nadia, Brems, Hilde, Legius, Eric, Cooper, David Neil and Upadhyaya, Meena 2012. Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas. European Journal of Human Genetics 20 (4) , pp. 411-419. 10.1038/ejhg.2011.207

Casola, Claudio, Zekonyte, Ugne, Phillips, Andrew David, Cooper, David Neil and Hahn, Matthew W. 2012. Interlocus gene conversion events introduce deleterious mutations into at least 1% of human genes associated with inherited disease. Genome Research 22 (3) , pp. 429-435. 10.1101/gr.127738.111

Clarke, Angus J., Cooper, David Neil, Krawczak, Michael, Tyler-Smith, Chris, Wallace, Helen M., Wilkie, Andrew O. M., Raymond, Frances, Chadwick, Ruth, Craddock, Nicholas John, John, Rosalind Margaret, Gallacher, John and Chiano, Mathias 2012. 'Sifting the significance from the data' - the impact of high-throughput genomic technologies on human genetics and health care. Human Genomics 6 , 11. 10.1186/1479-7364-6-11

Vogt, Julia, Nguyen, Rosa, Kluwe, Lan, Schuhmann, Martin, Roehl, Angelika C, Mußotter, Tanja, Cooper, David Neil, Mautner, Victor-Felix and Kehrer-Sawatzki, Hildegard 2011. Delineation of the clinical phenotype associated with non-mosaic type-2 NF1 deletions: two case reports. Journal of Medical Case Reports 5 (1) , 577. 10.1186/1752-1947-5-577

Yan, Guangmei, Zhang, Guojie, Fang, Xiaodong, Zhang, Yanfeng, Li, Cai, Ling, Fei, Cooper, David Neil, Li, Qiye, Li, Yan, van Gool, Alain J, Du, Hongli, Chen, Jiesi, Chen, Ronghua, Zhang, Pei, Huang, Zhiyong, Thompson, John R, Meng, Yuhuan, Bai, Yinqi, Wang, Jufang, Zhuo, Min, Wang, Tao, Huang, Ying, Wei, Liqiong, Li, Jianwen, Wang, Zhiwen, Hu, Haofu, Yang, Pengcheng, Le, Liang, Stenson, Peter Daniel, Li, Bo, Liu, Xiaoming, Ball, Edward Vincent, An, Na, Huang, Quanfei, Zhang, Yong, Fan, Wei, Zhang, Xiuqing, Li, Yingrui, Wang, Wen, Katze, Michael G, Su, Bing, Nielsen, Rasmus, Yang, Huanming, Wang, Jun, Wang, Xiaoning and Wang, Jian 2011. Genome sequencing and comparison of two nonhuman primate animal models, the cynomolgus and Chinese rhesus macaques [Letter]. Nature Biotechnology 29 (11) , pp. 1019-1023. 10.1038/nbt.1992

Naidoo, Nasheen, Pawitan, Yudi, Soong, Richie, Cooper, David Neil and Ku, Chee-Seng 2011. Human genetics and genomics a decade after the release of the draft sequence of the human genome. Human Genomics 5 (6) , 577. 10.1186/1479-7364-5-6-577

Marth, Gabor T., Yu, Fuli, Indap, Amit R, Garimella, Kiran, Gravel, Simon, Leong, Wen, Tyler-Smith, Chris, Bainbridge, Matthew, Blackwell, Tom, Zheng-Bradley, Xiangqun, Chen, Yuan, Challis, Danny, Clarke, Laura, Ball, Edward V, Cibulskis, Kristian, Cooper, David Neil, Fulton, Bob, Hartl, Chris, Koboldt, Dan, Muzny, Donna, Smith, Richard, Sougnez, Carrie, Stewart, Chip, Ward, Alistair, Yu, Jin, Xue, Yali, Altshuler, David, Bustamante, Carlos D., Clark, Andrew G., Daly, Mark, DePristo, Mark, Flicek, Paul, Gabriel, Stacey, Mardis, Elaine, Palotie, Aarno and Gibbs, Richard 2011. The functional spectrum of low-frequency coding variation. Genome Biology 12 (9) , R84. 10.1186/gb-2011-12-9-r84

Mai, Yuan, Koromila, Theodora, Sagia, Aggeliki, Cooper, David Neil, Vlachopoulos, Georgios, Lagoumintzis, George, Kollia, Panagoula, Poulas, Konstantinos, Stathakopoulos, Vlassios and Patrinos, George P. 2011. A critical view of the general public's awareness and physicians' opinion of the trends and potential pitfalls of genetic testing in Greece. Personalized Medicine 8 (5) , pp. 551-561. 10.2217/pme.11.48

Cooper, David Neil 2011. Lionizing lyonization 50 years on [Introduction]. Human Genetics 130 (2) , pp. 167-168. 10.1007/s00439-011-1012-y

Sagia, Aggeliki, Cooper, David Neil, Poulas, Konstantinos, Stathakopoulos, Vlassios and Patrinos, George 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, Guojie, Pei, Zhang, Ball, Edward Vincent, Mort, Matthew Edwin, Cooper, David Neil and Kehrer-Sawatzki, Hildegard 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, Dobril, Hamby, Stephen E., Stenson, Peter Daniel, Phillips, Andrew David, Kehrer-Sawatzki, Hildegard, Cooper, David Neil and Chuzhanova, Nadia 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

Chen, Jian-Min, Cooper, David Neil and Férec, Claude 2011. Local DNA sequence determinants of FUT2 copy number variation [Letter]. Transfusion 51 (6) , pp. 1359-1361. 10.1111/j.1537-2995.2011.03080.x

Mills, Ryan E., Walter, Klaudia, Stewart, Chip, Handsaker, Robert E., Chen, Ken, Alkan, Can, Abyzov, Alexej, Yoon, Seungtai Chris, Ye, Kai, Cheetham, R. Keira, Chinwalla, Asif, Conrad, Donald F., Fu, Yutao, Grubert, Fabian, Hajirasouliha, Iman, Hormozdiari, Fereydoun, Iakoucheva, Lilia M., Iqbal, Zamin, Kang, Shuli, Kidd, Jeffrey M., Konkel, Miriam K., Korn, Joshua, Khurana, Ekta, Kural, Deniz, Lam, Hugo Y. K., Leng, Jing, Li, Ruiqiang, Li, Yingrui, Lin, Chang-Yun, Luo, Ruibang, Mu, Xinmeng Jasmine, Nemesh, James, Peckham, Heather E., Rausch, Tobias, Scally, Aylwyn, Shi, Xinghua, Stromberg, Michael P., Stütz, Adrian M., Urban, Alexander Eckehart, Walker, Jerilyn A., Wu, Jiantao, Zhang, Yujun, Zhang, Zhengdong D., Batzer, Mark A., Ding, Li, Marth, Gabor T., McVean, Gil, Sebat, Jonathan, Snyder, Michael, Wang, Jun, Ye, Kenny, Eichler, Evan E., Gerstein, Mark B., Hurles, Matthew E., Lee, Charles, McCarroll, Steven A., Korbel, Jan O., Cooper, David Neil and 1000 Genomes Project, 2011. Mapping copy number variation by population-scale genome sequencing. Nature 470 (7332) , pp. 59-65. 10.1038/nature09708

Filocamo, Mirella, Cooper, David Neil and Di Rocco, Maja 2011. Mucopolysaccharide storage disorders. Encclopedia of Life Sciences (ELS), Wiley-Blackwell, (10.1002/9780470015902.a0006095)

Grossi, Serena, Regis, Stefano, Biancheri, Roberta, Mort, Matthew, Lualdi, Susanna, Bertini, Enrico, Uziel, Graziella, Boespflug-Tanguy, Odile, Simonati, Alessandro, Corsolini, Fabio, Demir, Ercan, Marchiani, Valentina, Percesepe, Antonio, Stanzial, Franco, Rossi, Andrea, Vaurs-Barrière, Catherine, Cooper, David Neil and Filocamo, Mirella 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 , 40. 10.1186/1750-1172-6-40

Wolf, Andreas, Caliebe, Amke, Thomas, Nicholas Stuart Tudor, Ball, Edward Vincent, Mort, Matthew Edwin, Stenson, Peter Daniel, Krawczak, Michael and Cooper, David Neil 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, David Neil and Kehrer-Sawatzki, Hildegard 2011. Exploring the potential relevance of human-specific genes to complex disease. Human Genomics 5 (2) , pp. 99-107.

Hamby, S. E., Thomas, Nicholas Stuart Tudor, Cooper, David Neil and Chuzhanova, Nadia 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, Sebastian, Thomas, Nicholas Stuart Tudor, Cooper, David Neil and Upadhyaya, Meena 2011. Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis. Human Genomics 5 (6) , pp. 623-690.

Necsulea, Anamaria, Popa, Alexandra, Cooper, David Neil, Stenson, Peter Daniel, Mouchiroud, Dominique, Gautier, Christian and Duret, Laurent 2011. Meiotic recombination favors the spreading of deleterious mutations in human populations. Human Mutation 32 (2) , pp. 198-206. 10.1002/humu.21407

Messiaen, Ludwine, Vogt, Julia, Bengesser, Kathrin, Fu, Chuanhua, Mikhail, Fady, Serra, Eduard, Garcia-Linares, Carles, Cooper, David Neil, Lazaro, Conxi and Kehrer-Sawatzki, Hildegard 2011. Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1). Human Mutation 32 (2) , pp. 213-219. 10.1002/humu.21418

Vogt, Julia, Kohlhase, Jürgen, Morlot, Susanne, Kluwe, Lan, Mautner, Victor-Felix, Cooper, David Neil and Kehrer-Sawatzki, Hildegard 2011. Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutation. Human Mutation 32 (6) , E2134-E2147. 10.1002/humu.21476

Bertola, Francesca, Filocamo, Mirella, Casati, Giorgio, Mort, Matthew Edwin, Rosano, Camillo, Tylki-Szymanska, Anna, Tüysüz, Beyhan, Gabrielli, Orazio, Grossi, Serena, Scarpa, Maurizio, Parenti, Giancarlo, Antuzzi, Daniela, Dalmau, Jaime, Rocco, Maja Di, Vici, Carlo Dionisi, Okur, Ilyas, Rosell, Jordi, Rovelli, Attilio, Furlan, Francesca, Rigoldi, Miriam, Biondi, Andrea, Cooper, David Neil and Parini, Rossella 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) , E2189-E2210. 10.1002/humu.21479

Cooper, David Neil, Bacolla, Albino, Férec, Claude, Vasquez, Karen M., Kehrer-Sawatzki, Hildegard and Chen, Jian-Min 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, Yiqiang, Clark, Wyatt T., Mort, Matthew Edwin, Cooper, David Neil, Radivojac, Predrag and Mooney, Sean D. 2011. Prediction of functional regulatory SNPs in monogenic and complex disease. Human Mutation 32 (10) , pp. 1183-1190. 10.1002/humu.21559

Fechtel, Kim, Osterbur, Marika L., Kehrer-Sawatzki, Hildegard, Stenson, Peter Daniel and Cooper, David Neil 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, Simon, Henn, Brenna M., Gutenkunst, Ryan N., Indap, Amit R., Marth, Gabor T., Clark, Andrew G., Yu, Fuli, Gibbs, Richard A., Bustamante, Carlos D., Altshuler, D. L., Durbin, R. M., Abecasis, G. R., Bentley, D. R., Chakravarti, A., Clark, A. G., Collins, F. S., De La Vega, F. M., Donnelly, P., Egholm, M., Flicek, P., Gabriel, S. B., Gibbs, R. A., Knoppers, B. M., Lander, E. S., Lehrach, H., Mardis, E. R., McVean, G. A., Nickerson, D. A., Peltonen, L., Schafer, A. J., Sherry, S. T., Wang, J., Wilson, R. K., Gibbs, R. A., Deiros, D., Metzker, M., Muzny, D., Reid, J., Wheeler, D., Wang, J., Li, J., Jian, M., Li, G., Li, R., Liang, H., Tian, G., Wang, B., Wang, J., Wang, W., Yang, H., Zhang, X., Zheng, H., Lander, E. S., Altshuler, D. L., Ambrogio, L., Bloom, T., Cibulskis, K., Fennell, T. J., Gabriel, S. B., Jaffe, D. B., Shefler, E., Sougnez, C. L., Bentley, D. R., Gormley, N., Humphray, S., Kingsbury, Z., Koko-Gonzales, P., Stone, J., McKernan, K. J., Costa, G. L., Ichikawa, J. K., Lee, C. C., Sudbrak, R., Lehrach, H., Borodina, T. A., Dahl, A., Davydov, A. N., Marquardt, P., Mertes, F., Nietfeld, W., Rosenstiel, P., Schreiber, S., Soldatov, A. V., Timmermann, B., Tolzmann, M., Egholm, M., Affourtit, J., Ashworth, D., Attiya, S., Bachorski, M., Buglione, E., Burke, A., Caprio, A., Celone, C., Clark, S., Conners, D., Desany, B., Gu, L., Guccione, L., Kao, K., Kebbel, A., Knowlton, J., Labrecque, M., McDade, L., Mealmaker, C., Minderman, M., Nawrocki, A., Niazi, F., Pareja, K., Ramenani, R., Riches, D., Song, W., Turcotte, C., Wang, S., Mardis, E. R., Wilson, R. K., Dooling, D., Fulton, L., Fulton, R., Weinstock, G., Durbin, R. M., Burton, J., Carter, D. M., Churcher, C., Coffey, A., Cox, A., Palotie, A., Quail, M., Skelly, T., Stalker, J., Swerdlow, H. P., Turner, D., De Witte, A., Giles, S., Gibbs, R. A., Wheeler, D., Bainbridge, M., Challis, D., Sabo, A., Yu, F., Yu, J., Wang, J., Fang, X., Guo, X., Li, R., Li, Y., Luo, R., Tai, S., Wu, H., Zheng, H., Zheng, X., Zhou, Y., Li, G., Wang, J., Yang, H., Marth, G. T., Garrison, E. P., Huang, W., Indap, A., Kural, D., Lee, W.-P., Leong, W. F., Quinlan, A. R., Stewart, C., Stromberg, M. P., Ward, A. N., Wu, J., Lee, C., Mills, R. E., Shi, X., Daly, M. J., DePristo, M. A., Altshuler, D. L., Ball, A. D., Banks, E., Bloom, T., Browning, B. L., Cibulskis, K., Fennell, T. J., Garimella, K. V., Grossman, S. R., Handsaker, R. E., Hanna, M., Hartl, C., Jaffe, D. B., Kernytsky, A. M., Korn, J. M., Li, H., Maguire, J. R., McCarroll, S. A., McKenna, A., Nemesh, J. C., Philippakis, A. A., Poplin, R. E., Price, A., Rivas, M. A., Sabeti, P. C., Schaffner, S. F., Shefler, E., Shlyakhter, I. A., Cooper, David Neil, Ball, E. V., Mort, M., Phillips, A. D., Stenson, P. D., Sebat, J., Makarov, V., Ye, K., Yoon, S. C., Bustamante, C. D., Clark, A. G., Boyko, A., Degenhardt, J., Gravel, S., Gutenkunst, R. N., Kaganovich, M., Keinan, A., Lacroute, P., Ma, X., Reynolds, A., Clarke, L., Flicek, P., Cunningham, F., Herrero, J., Keenen, S., Kulesha, E., Leinonen, R., McLaren, W. M., Radhakrishnan, R., Smith, R. E., Zalunin, V., Zheng-Bradley, X., Korbel, J. O., Stutz, A. M., Humphray, S., Bauer, M., Cheetham, R. K., Cox, T., Eberle, M., James, T., Kahn, S., Murray, L., Chakravarti, A., Ye, K., De La Vega, F. M., Fu, Y., Hyland, F. C. L., Manning, J. M., McLaughlin, S. F., Peckham, H. E., Sakarya, O., Sun, Y. A., Tsung, E. F., Batzer, M. A., Konkel, M. K., Walker, J. A., Sudbrak, R., Albrecht, M. W., Amstislavskiy, V. S., Herwig, R., Parkhomchuk, D. V., Sherry, S. T., Agarwala, R., Khouri, H. M., Morgulis, A. O., Paschall, J. E., Phan, L. D., Rotmistrovsky, K. E., Sanders, R. D., Shumway, M. F., Xiao, C., McVean, G. A., Auton, A., Iqbal, Z., Lunter, G., Marchini, J. L., Moutsianas, L., Myers, S., Tumian, A., Desany, B., Knight, J., Winer, R., Craig, D. W., Beckstrom-Sternberg, S. M., Christoforides, A., Kurdoglu, A. A., Pearson, J. V., Sinari, S. A., Tembe, W. D., Haussler, D., Hinrichs, A. S., Katzman, S. J., Kern, A., Kuhn, R. M., Przeworski, M., Hernandez, R. D., Howie, B., Kelley, J. L., Melton, S. C., Abecasis, G. R., Li, Y., Anderson, P., Blackwell, T., Chen, W., Cookson, W. O., Ding, J., Kang, H. M., Lathrop, M., Liang, L., Moffatt, M. F., Scheet, P., Sidore, C., Snyder, M., Zhan, X., Zollner, S., Awadalla, P., Casals, F., Idaghdour, Y., Keebler, J., Stone, E. A., Zilversmit, M., Jorde, L., Xing, J., Eichler, E. E., Aksay, G., Alkan, C., Hajirasouliha, I., Hormozdiari, F., Kidd, J. M., Sahinalp, S. C., Sudmant, P. H., Mardis, E. R., Chen, K., Chinwalla, A., Ding, L., Koboldt, D. C., McLellan, M. D., Dooling, D., Weinstock, G., Wallis, J. W., Wendl, M. C., Zhang, Q., Durbin, R. M., Albers, C. A., Ayub, Q., Balasubramaniam, S., Barrett, J. C., Carter, D. M., Chen, Y., Conrad, D. F., Danecek, P., Dermitzakis, E. T., Hu, M., Huang, N., Hurles, M. E., Jin, H., Jostins, L., Keane, T. M., Le, S. Q., Lindsay, S., Long, Q., MacArthur, D. G., Montgomery, S. B., Parts, L., Stalker, J., Tyler-Smith, C., Walter, K., Zhang, Y., Gerstein, M. B., Snyder, M., Abyzov, A., Balasubramanian, S., Bjornson, R., Du, J., Grubert, F., Habegger, L., Haraksingh, R., Jee, J., Khurana, E., Lam, H. Y. K., Leng, J., Mu, X. J., Urban, A. E., Zhang, Z., Li, Y., Luo, R., Marth, G. T., Garrison, E. P., Kural, D., Quinlan, A. R., Stewart, C., Stromberg, M. P., Ward, A. N., Wu, J., Lee, C., Mills, R. E., Shi, X., McCarroll, S. A., Banks, E., DePristo, M. A., Handsaker, R. E., Hartl, C., Korn, J. M., Li, H., Nemesh, J. C., Sebat, J., Makarov, V., Ye, K., Yoon, S. C., Degenhardt, J., Kaganovich, M., Clarke, L., Smith, R. E., Zheng-Bradley, X., Korbel, J. O., Humphray, S., Cheetham, R. K., Eberle, M., Kahn, S., Murray, L., Ye, K., De La Vega, F. M., Fu, Y., Peckham, H. E., Sun, Y. A., Batzer, M. A., Konkel, M. K., Walker, J. A., Xiao, C., Iqbal, Z., Desany, B., Blackwell, T., Snyder, M., Xing, J., Eichler, E. E., Aksay, G., Alkan, C., Hajirasouliha, I., Hormozdiari, F., Kidd, J. M., Chen, K., Chinwalla, A., Ding, L., McLellan, M. D., Wallis, J. W., Hurles, M. E., Conrad, D. F., Walter, K., Zhang, Y., Gerstein, M. B., Snyder, M., Abyzov, A., Du, J., Grubert, F., Haraksingh, R., Jee, J., Khurana, E., Lam, H. Y. K., Leng, J., Mu, X. J., Urban, A. E., Zhang, Z., Gibbs, R. A., Bainbridge, M., Challis, D., Coafra, C., Dinh, H., Kovar, C., Lee, S., Muzny, D., Nazareth, L., Reid, J., Sabo, A., Yu, F., Yu, J., Marth, G. T., Garrison, E. P., Indap, A., Leong, W. F., Quinlan, A. R., Stewart, C., Ward, A. N., Wu, J., Cibulskis, K., Fennell, T. J., Gabriel, S. B., Garimella, K. V., Hartl, C., Shefler, E., Sougnez, C. L., Wilkinson, J., Clark, A. G., Gravel, S., Grubert, F., Clarke, L., Flicek, P., Smith, R. E., Zheng-Bradley, X., Sherry, S. T., Khouri, H. M., Paschall, J. E., Shumway, M. F., Xiao, C., McVean, G. A., Katzman, S. J., Abecasis, G. R., Blackwell, T., Mardis, E. R., Dooling, D., Fulton, L., Fulton, R., Koboldt, D. C., Durbin, R. M., Balasubramaniam, S., Coffey, A., Keane, T. M., MacArthur, D. G., Palotie, A., Scott, C., Stalker, J., Tyler-Smith, C., Gerstein, M. B., Balasubramanian, S., Chakravarti, A., Knoppers, B. M., Abecasis, G. R., Bustamante, C. D., Gharani, N., Gibbs, R. A., Jorde, L., Kaye, J. S., Kent, A., Li, T., McGuire, A. L., McVean, G. A., Ossorio, P. N., Rotimi, C. N., Su, Y., Toji, L. H., TylerSmith, C., Brooks, L. D., Felsenfeld, A. L., McEwen, J. E., Abdallah, A., Juenger, C. R., Clemm, N. C., Collins, F. S., Duncanson, A., Green, E. D., Guyer, M. S., Peterson, J. L., Schafer, A. J., Abecasis, G. R., Altshuler, D. L., Auton, A., Brooks, L. D., Durbin, R. M., Gibbs, R. A., Hurles, M. E. and McVean, G. A. 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

Bacolla, A., Wang, G., Jain, A., Chuzhanova, N. A., Cer, R. Z., Collins, J. R., Cooper, David Neil, Bohr, V. A. and Vasquez, K. M. 2011. Non-B DNA-forming Sequences and WRN Deficiency Independently Increase the Frequency of Base Substitution in Human Cells. Journal of Biological Chemistry 286 (12) , pp. 10017-10026. 10.1074/jbc.M110.176636

Sterne-Weiler, T., Howard, J., Mort, Matthew, Cooper, David Neil 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, Arnaud, Witt, Heiko, Chandak, Giriraj Ratan, Masson, Emmanuelle, Paliwal, Sumit, Bhaskar, Seema, Reddy, D. Nageshwar, Cooper, David Neil, Chen, Jian-Min and Férec, Claude 2011. Assessing the pathological relevance of SPINK1 promoter variants. European Journal of Human Genetics 19 (10) , pp. 1066-1073. 10.1038/ejhg.2011.79

Sudmant, P. H., Kitzman, J. O., Antonacci, F., Alkan, C., Malig, M., Tsalenko, A., Sampas, N., Bruhn, L., Shendure, J., Eichler, E. E., Cooper, David Neil and 1000 Genomes Project, 2010. Diversity of human copy number variation and multicopy genes. Science 330 (6004) , pp. 641-646. 10.1126/science.1197005

Durbin, Richard M., Altshuler, David L., Durbin, Richard M., Abecasis, Gonçalo R., Bentley, David R., Chakravarti, Aravinda, Clark, Andrew G., Collins, Francis S., De La Vega, Francisco M., Donnelly, Peter, Egholm, Michael, Flicek, Paul, Gabriel, Stacey B., Gibbs, Richard A., Knoppers, Bartha M., Lander, Eric S., Lehrach, Hans, Mardis, Elaine R., McVean, Gil A., Nickerson, Debbie A., Peltonen, Leena, Schafer, Alan J., Sherry, Stephen T., Wang, Jun, Wilson, Richard K., Gibbs, Richard A., Deiros, David, Metzker, Mike, Muzny, Donna, Reid, Jeff, Wheeler, David, Wang, Jun, Li, Jingxiang, Jian, Min, Li, Guoqing, Li, Ruiqiang, Liang, Huiqing, Tian, Geng, Wang, Bo, Wang, Jian, Wang, Wei, Yang, Huanming, Zhang, Xiuqing, Zheng, Huisong, Lander, Eric S., Altshuler, David L., Ambrogio, Lauren, Bloom, Toby, Cibulskis, Kristian, Fennell, Tim J., Gabriel, Stacey B., Jaffe, David B., Shefler, Erica, Sougnez, Carrie L., Bentley, David R., Gormley, Niall, Humphray, Sean, Kingsbury, Zoya, Koko-Gonzales, Paula, Stone, Jennifer, McKernan, Kevin J., Costa, Gina L., Ichikawa, Jeffry K., Lee, Clarence C., Sudbrak, Ralf, Lehrach, Hans, Borodina, Tatiana A., Dahl, Andreas, Davydov, Alexey N., Marquardt, Peter, Mertes, Florian, Nietfeld, Wilfiried, Rosenstiel, Philip, Schreiber, Stefan, Soldatov, Aleksey V., Timmermann, Bernd, Tolzmann, Marius, Egholm, Michael, Affourtit, Jason, Ashworth, Dana, Attiya, Said, Bachorski, Melissa, Buglione, Eli, Burke, Adam, Caprio, Amanda, Celone, Christopher, Clark, Shauna, Conners, David, Desany, Brian, Gu, Lisa, Guccione, Lorri, Kao, Kalvin, Kebbel, Andrew, Knowlton, Jennifer, Labrecque, Matthew, McDade, Louise, Mealmaker, Craig, Minderman, Melissa, Nawrocki, Anne, Niazi, Faheem, Pareja, Kristen, Ramenani, Ravi, Riches, David, Song, Wanmin, Turcotte, Cynthia, Wang, Shally, Mardis, Elaine R., Wilson, Richard K., Dooling, David, Fulton, Lucinda, Fulton, Robert, Weinstock, George, Durbin, Richard M., Burton, John, Carter, David M., Churcher, Carol, Coffey, Alison, Cox, Anthony, Palotie, Aarno, Quail, Michael, Skelly, Tom, Stalker, James, Swerdlow, Harold P., Turner, Daniel, De Witte, Anniek, Giles, Shane, Gibbs, Richard A., Wheeler, David, Bainbridge, Matthew, Challis, Danny, Sabo, Aniko, Yu, Fuli, Yu, Jin, Wang, Jun, Fang, Xiaodong, Guo, Xiaosen, Li, Ruiqiang, Li, Yingrui, Luo, Ruibang, Tai, Shuaishuai, Wu, Honglong, Zheng, Hancheng, Zheng, Xiaole, Zhou, Yan, Li, Guoqing, Wang, Jian, Yang, Huanming, Marth, Gabor T., Garrison, Erik P., Huang, Weichun, Indap, Amit, Kural, Deniz, Lee, Wan-Ping, Fung Leong, Wen, Quinlan, Aaron R., Stewart, Chip, Stromberg, Michael P., Ward, Alistair N., Wu, Jiantao, Lee, Charles, Mills, Ryan E., Shi, Xinghua, Daly, Mark J., DePristo, Mark A., Altshuler, David L., Ball, Aaron D., Banks, Eric, Bloom, Toby, Browning, Brian L., Cibulskis, Kristian, Fennell, Tim J., Garimella, Kiran V., Grossman, Sharon R., Handsaker, Robert E., Hanna, Matt, Hartl, Chris, Jaffe, David B., Kernytsky, Andrew M., Korn, Joshua M., Li, Heng, Maguire, Jared R., McCarroll, Steven A., McKenna, Aaron, Nemesh, James C., Philippakis, Anthony A., Poplin, Ryan E., Price, Alkes, Rivas, Manuel A., Sabeti, Pardis C., Schaffner, Stephen F., Shefler, Erica, Shlyakhter, Ilya A., Cooper, David Neil, Ball, Edward Vincent, Mort, Matthew Edwin, Phillips, Andrew David, Stenson, Peter Daniel, Sebat, Jonathan, Makarov, Vladimir, Ye, Kenny, Yoon, Seungtai C., Bustamante, Carlos D., Clark, Andrew G., Boyko, Adam, Degenhardt, Jeremiah, Gravel, Simon, Gutenkunst, Ryan N., Kaganovich, Mark, Keinan, Alon, Lacroute, Phil, Ma, Xin, Reynolds, Andy, Clarke, Laura, Flicek, Paul, Cunningham, Fiona, Herrero, Javier, Keenen, Stephen, Kulesha, Eugene, Leinonen, Rasko, McLaren, William M., Radhakrishnan, Rajesh, Smith, Richard E., Zalunin, Vadim, Zheng-Bradley, Xiangqun, Korbel, Jan O., Stütz, Adrian M., Humphray, Sean, Bauer, Markus, Keira Cheetham, R., Cox, Tony, Eberle, Michael, James, Terena, Kahn, Scott, Murray, Lisa, Chakravarti, Aravinda, Ye, Kai, De La Vega, Francisco M., Fu, Yutao, Hyland, Fiona C. 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Bacolla, A., Cooper, David N and Vasquez, K. M. 2010. Non-B DNA structure and mutations causing human genetic disease. eLS, John Wiley & Sons, (10.1002/9780470015902.a0022657)

Krawczak, Michael, Goebel, Jürgen W and Cooper, David Neil 2010. Is the NIH policy for sharing GWAS data running the risk of being counterproductive? Investigative Genetics 1 (1) , p. 3. 10.1186/2041-2223-1-3

Cooper, David Neil 2010. Functional intronic polymorphisms: buried treasure awaiting discovery within our genes. Human Genomics 4 (5) , p. 284. 10.1186/1479-7364-4-5-284

Millar, David Stuart, Tysoe, Carolyn, Lazarou, Lazarus P., Pilz, T., Mohammed, Shehla, Anderson, Katharine, Chuzhanova, Nadia, Cooper, David Neil and Butler, Rachel 2010. An isolated case of lissencephaly caused by the insertion of a mitochondrial genome-derived DNA sequence into the 5′ untranslated region of the PAFAH1B1 (LIS1) gene. Human Genomics 4 (6) , pp. 384-393.

Cooper, David Neil, Mort, Matthew Edwin, Stenson, Peter Daniel, Ball, Edward Vincent and Chuzhanova, Nadia A. 2010. Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotides. Human Genomics 4 (6) , pp. 406-410.

Millar, David Stuart, Horan, Martin Patrick, Chuzhanova, Nadia A. and Cooper, David Neil 2010. Characterisation of a functional intronic polymorphism in the human growth hormone (GH1) gene. Human Genomics 4 (5) , pp. 289-301.

Stenson, Peter Daniel and Cooper, David Neil 2010. Prospects for the automated extraction of mutation data from the scientific literature [Editorial]. Human Genomics 5 (1) , pp. 1-4.

Roehl, Angelika C., Cooper, David Neil, Kluwe, Lan, Helbrich, Andreas, Wimmer, Katharina, Högel, Josef, Mautner, Victor-Felix and Kehrer-Sawatzki, Hildegard 2010. Extended runs of homozygosity at 17q11.2: an association with type-2NF1 deletions? Human Mutation 31 (3) , pp. 325-334. 10.1002/humu.21191

Lualdi, Susanna, Tappino, Barbara, Di Duca, Marco, Dardis, Andrea, Anderson, Christopher J., Biassoni, Roberto, Thompson, Peter W., Corsolini, Fabio, Di Rocco, Maja, Bembi, Bruno, Regis, Stefano, Cooper, David Neil and Filocamo, Mirella 2010. Enigmatic In Vivo iduronate-2-sulfatase (IDS) mutant transcript correction to wild-type in Hunter syndrome. Human Mutation 31 (4) , E1261-E1285. 10.1002/humu.21208

Mort, Matthew Edwin, Evani, Uday S., Krishnan, Vidhya G., Kamati, Kishore K., Baenziger, Peter H., Bagchi, Angshuman, Peters, Brandon J., Sathyesh, Rakesh, Li, Biao, Sun, Yanan, Xue, Bin, Shah, Nigam H., Kann, Maricel G., Cooper, David Neil, Radivojac, Predrag and Mooney, Sean D. 2010. In silico functional profiling of human disease-associated and polymorphic amino acid substitutions. Human Mutation 31 (3) , pp. 335-346. 10.1002/humu.21192

Quemener, Sylvia, Chen, Jian-Min, Chuzhanova, Nadia, Bénech, Caroline, Casals, Teresa, Macek, Milan, Bienvenu, Thierry, McDevitt, Trudi, Farrell, Philip M., Loumi, Ourida, Messaoud, Taieb, Cuppens, Harry, Cutting, Garry R., Stenson, Peter Daniel, Giteau, Karine, Audrézet, Marie-Pierre, Cooper, David Neil and Férec, Claude 2010. Complete ascertainment of intragenic copy number mutations (CNMs) in theCFTRgene and its implications for CNM formation at other autosomal loci. Human Mutation 31 (4) , pp. 421-428. 10.1002/humu.21196

Bengesser, Kathrin, Cooper, David Neil, Steinmann, Katharina, Kluwe, Lan, Chuzhanova, Nadia A., Wimmer, Katharina, Tatagiba, Marcos, Tinschert, Sigrid, Mautner, Victor-Felix and Kehrer-Sawatzki, Hildegard 2010. A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2. Human Mutation 31 (6) , pp. 742-751. 10.1002/humu.21254

Cooper, David Neil, Chen, Jian-Min, Ball, Edward Vincent, Howells, Katy, Mort, Matthew Edwin, Phillips, Andrew David, Chuzhanova, Nadia, Krawczak, Michael, Kehrer-Sawatzki, Hildegard and Stenson, Peter Daniel 2010. Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics. Human Mutation 31 (6) , pp. 631-655. 10.1002/humu.21260

Roehl, Angelika C., Vogt, Julia, Mussotter, Tanja, Zickler, Antje N., Spöti, Helene, Högel, Josef, Chuzhanova, Nadia A., Wimmer, Katharina, Kluwe, Lan, Mautner, Victor-Felix, Cooper, David Neil and Kehrer-Sawatzki, Hildegard 2010. Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions. Human Mutation 31 (10) , pp. 1163-1173. 10.1002/humu.21340

Tappino, Barbara, Biancheri, Roberta, Mort, Matthew Edwin, Regis, Stefano, Corsolini, Fabio, Rossi, Andrea, Stroppiano, Marina, Lualdi, Susanna, Fiumara, Agata, Bembi, Bruno, Di Rocco, Maja, Cooper, David Neil and Filocamo, Mirella 2010. Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease. Human Mutation 31 (12) , E1894-E1914. 10.1002/humu.21367

Zhang, Guojie, Pei, Zhang, Krawczak, Michael, Ball, Edward Vincent, Mort, Matthew Edwin, Kehrer-Sawatzki, Hildegard and Cooper, David Neil 2010. Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations. Human Mutation 31 (12) , pp. 1286-1293. 10.1002/humu.21389

Pagon, Roberta A., Hamosh, Ada, den Dunnen, Johan, Firth, Helen V., Maglott, Donna R., Sherry, Stephen T., Feolo, Michael, Cooper, David Neil and Stenson, Peter Daniel 2010. Databases in human and medical genetics. In: Speicher, Michael R., Antonarakis, Stylianos E. and Motulsky, Arno G. eds. Vogel and Motulsky's Human Genetics: Problems and Approaches. 4th ed., London: Springer, pp. 941-961.

Antonarakis, Stylianos E. and Cooper, David Neil 2010. Human gene mutation: mechanisms and consequences. In: Speicher, Michael R., Antonarakis, Stylianos E. and Motulsky, Arno G. eds. Vogel and Motulsky's human genetics: problems and approaches. 4th ed., London: Springer, pp. 319-364.

Cooper, David Neil and Mort, Matthew 2010. Do inherited disease genes have distinguishing functional characteristics? Genetic Testing and Molecular Biomarkers 14 (3) , pp. 289-291. 10.1089/gtmb.2010.0033

Cooper, David Neil, Ball, Edward Vincent and Mort, Matthew Edwin 2010. Chromosomal distribution of disease genes in the human genome. Genetic Testing and Molecular Biomarkers 14 (4) , pp. 441-446. 10.1089/gtmb.2010.0081

Chen, Jian-Min, Cooper, David Neil, Férec, Claude, Kehrer-Sawatzki, Hildegard and Patrinos, George P. 2010. Genomic rearrangements in inherited disease and cancer. Seminars in Cancer Biology 20 (4) , pp. 222-233. 10.1016/j.semcancer.2010.05.007

Xin, F., Myers, S., Li, Y. F., Cooper, David Neil, 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, David Neil 2010. Revealing the human mutome. Clinical Genetics 78 (4) , pp. 310-320. 10.1111/j.1399-0004.2010.01474.x

Mautner, V. F., Kluwe, L., Friedrich, R. E., Roehl, A. C., Bammert, S., Hogel, J., Spori, H., Cooper, David Neil and Kehrer-Sawatzki, H. 2010. Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions. Journal of Medical Genetics 47 (9) , pp. 623-630. 10.1136/jmg.2009.075937

Chen, Jian-Min, Férec, Claude and Cooper, David Neil 2010. Gene conversion in human genetic disease. Genes 1 (3) , pp. 550-563. 10.3390/genes1030550

Clarke, Angus John and Cooper, David Neil 2010. GWAS: heritability missing in action? European Journal of Human Genetics 18 (8) , pp. 859-861. 10.1038/ejhg.2010.35

Goebel, Jürgen W., Pickardt, Thomas, Bedau, Maren, Fuchs, Michael, Lenk, Christian, Paster, Inga, Spranger, Tarde M., Stockter, Ulrich, Bauer, Ulrike, Cooper, David Neil and Krawczak, Michael 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

Stenson, Peter Daniel, Ball, Edward Vincent, Howells, Katy, Phillips, Andrew David, Mort, Matthew Edwin and Cooper, David Neil 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, Barbara, Chuzhanova, Nadia A., Regis, Stefano, Dardis, Andrea, Corsolini, Fabio, Stroppiano, Marina, Tonoli, Emmanuel, Beccari, Tommaso, Rosano, Camillo, Mucha, Jan, Blanco, Mariana, Szlago, Marina, Di Rocco, Maja, Cooper, David Neil and Filocamo, Mirella 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) , E956-E973. 10.1002/humu.21099

Chen, Jian-Min, Férec, Claude and Cooper, David Neil 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, Jian-Min, Cooper, David Neil, Chuzhanova, Nadia, Férec, Claude and Patrinos, George P. 2009. Gene conversion in evolution and disease. Encyclopedia of Life Sciences, Chichester: John Wiley, (10.1002/9780470015902.a0005100.pub2)

Chuzhanova, Nadia, Chen, Jian-Min, Bacolla, Albino, Patrinos, George P., Férec, Claude, Wells, Robert D. and Cooper, David Neil 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

Persichetti, Emanuele, Chuzhanova, Nadia, Dardis, Andrea, Tappino, Barbara, Pohl, Sandra, Thomas, Nicholas Stuart Tudor, Rosano, Camillo, Balducci, Chiara, Paciotti, Silvia, Dominissini, Silvia, Montalvo, Anna Lisa, Sibilio, Michela, Parini, Rossella, Rigoldi, Miriam, Di Rocco, Maja, Parenti, Giancarlo, Orlacchio, Aldo, Bembi, Bruno, Cooper, David Neil, Filocamo, Mirella and Beccari, Tommaso 2009. Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma. Human Mutation 30 (6) , pp. 978-984. 10.1002/humu.20959

Kehrer-Sawatzki, Hildegard and Cooper, David Neil 2009. Preface. Cytogenetic and Genome Research 123 (1-4) , pp. 5-6. 10.1159/000184686

Wolf, Andreas, Millar, David Stuart, Caliebe, Amke, Horan, Martin Patrick, Newsway, Victoria Elizabeth, Kumpf, Dorothea, Steinmann, Katharina, Chee, Ik-Seung, Lee, Young-Ho, Mutirangura, Apiwat, Pepe, Guglielmina, Rickards, Olga, Schmidtke, Jörg, Schempp, Werner, Chuzhanova, Nadia, Kehrer-Sawatzki, Hildegard, Krawczak, Michael and Cooper, David Neil 2009. A gene conversion hotspot in the human growth hormone (GH1) gene promoter. Human Mutation 30 (2) , pp. 239-247. 10.1002/humu.20850

Stenson, Peter Daniel, Mort, Matthew, Ball, Edward, Howells, Katy, Phillips, Andrew David, Thomas, Nick and Cooper, David Neil 2009. The Human Gene Mutation Database: 2008 update. Genome Medicine 1 (1) , 13. 10.1186/gm13

Kolb, Jessica, Chuzhanova, Nadia A., Högel, Josef, Vasquez, Karen M., Cooper, David Neil, Bacolla, Albino and Kehrer-Sawatzki, Hildegard 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, Claus, Kohn, Matthias, Cooper, David Neil, Froenicke, Lutz, Högel, Josef, Hameister, Horst and Kehrer-Sawatzki, Hildegard 2009. Gene synteny comparisons between different vertebrates provide new insights into breakage and fusion events during mammalian karyotype evolution. BMC Evolutionary Biology 9 (1) , 84. 10.1186/1471-2148-9-84

Hudson, Thomas J. and Cooper, David Neil 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, Hildegard and Cooper, David Neil, eds. 2009. Copy number variation and disease. London: Karger.

Zheng, Yixian, Tickle, Cheryl, Jansson, Roland, Kehrer-Sawatzki, Hildegard, Cooper, David Neil, Delves, Peter, Melino, Gerry, Battista, John, Levitan, L., Roberts, K., Bynum, William F., Valpuesta, Jose M. and Harper, David, eds. 2009. Encyclopedia of life sciences. John Wiley.

Li, B., Krishnan, V. G., Mort, Matthew Edwin, Xin, F., Kamati, K. K., Cooper, David Neil, Mooney, S. D. and Radivojac, P. 2009. Automated inference of molecular mechanisms of disease from amino acid substitutions. Bioinformatics 25 (21) , pp. 2744-2750. 10.1093/bioinformatics/btp528

Chauvin, A., Chen, J.-M., Quemener, S., Masson, E., Kehrer-Sawatzki, Hildegard, Ohmle, B., Cooper, David Neil, Le Marechal, C. and Ferec, C. 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., Wang, X., Mort, Matthew Edwin, VanDuyn, N., Cooper, David Neil, Mooney, S. D., Edenberg, H. J. and Liu, Y. 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, Katharina, Kluwe, Lan, Friedrich, Reinhard E., Mautner, Victor-Felix, Cooper, David Neil and Kehrer-Sawatzki, Hildegard 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

Millar, David Stuart, Lewis, Mark David, Horan, Martin Patrick, Newsway, Victoria Elizabeth, Rees, Dafydd Aled, Easter, Tammy Elaine, Pepe, Guglielmina, Rickards, Olga, Norin, Martin, Scanlon, Maurice Francis, Krawczak, Michael and Cooper, David Neil 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

Mort, Matthew Edwin, Ivanov, Dobril, Cooper, David Neil and Chuzhanova, Nadia 2008. A meta-analysis of nonsense mutations causing human genetic disease. Human Mutation 29 (8) , pp. 1037-1047. 10.1002/humu.20763

Chen, Jian-Min, Cooper, David Neil and Férec, Claude 2008. Pathological missense mutations provide new insights into the evolution of trypsinogen genes. eLS, Wiley-Blackwell, (10.1002/9780470015902.a0006140.pub2)

Kehrer-Sawatzki, Hildegard and Cooper, David Neil 2008. Molecular mechanisms of chromosomal rearrangement during primate evolution. Chromosome Research 16 (1) , pp. 41-56. 10.1007/s10577-007-1207-1

Steinmann, Katharina, Kluwe, Lan, Cooper, David Neil, Brems, Hilde, De Raedt, Thomas, Legius, Eric, Mautner, Viktor-Felix and Kehrer-Sawatzki, Hildegard 2008. Copy number variations in the NF1 gene region are infrequent and do not predispose to recurrent type-1 deletions. European Journal of Human Genetics 16 (5) , pp. 572-580. 10.1038/sj.ejhg.5202002

Cooper, David Neil and Kehrer-Sawatzki, Hildegard 2008. The chimpanzee genome project. eLS 10.1002/9780470015902.a0020753

Kehrer-Sawatzki, Hildegard and Cooper, David Neil 2008. Chromosomal rearrangements in the human and chimpanzee lineages. eLS 10.1002/9780470015902.a0020738

Kehrer-Sawatzki, H. and Cooper, David Neil 2008. Comparative analysis of copy number variation in primate genomes. Cytogenetic and Genome Research 123 (1-4) , pp. 288-296. 10.1159/000184720

Somers, Christopher M. and Cooper, David Neil 2008. Air pollution and mutations in the germline: are humans at risk? Human Genetics 125 (2) , pp. 119-130. 10.1007/s00439-008-0613-6

Rosser, Lyndon G., McKee, Shane, Millar, David Stuart, Archer, Hayley, Hughes, James, Butler, Rachel, Chuzhanova, Nadia, Cooper, David Neil and Lazarou, Lazarus P. 2008. Two sisters with Rett syndrome and non-identical paternally-derived microdeletions in the MECP2 gene. Genomic Medicine 2 (3-4) , pp. 77-81. 10.1007/s11568-008-9026-9

Cooper, David Neil and Kehrer-Sawatzki, Hildegard, eds. 2008. Handbook of human molecular evolution. Chichester: John Wiley.

Kehrer-Sawatzki, Hildegard and Cooper, David Neil 2008. Chromosomal rearrangements in the human and chimpanzee lineages. In: Cooper, David Neil and Kehrer-Sawatzki, Hildegard eds. Handbook of human molecular evolution, Chichester: John Wiley, pp. 1328-1334.

Kehrer-Sawatzki, Hildegard and Cooper, David Neil 2008. Divergence between the human and chimpanzee genomes and its impact on protein and transcriptome evolution. In: Cooper, David Neil and Kehrer-Sawatzki, Hildegard eds. Handbook of human molecular evolution, Chichester: John Wiley, pp. 605-616.

Khaitovich, Philipp, Kehrer-Sawatzko, Hildegard and Cooper, David Neil 2008. Human and chimpanzee transcriptomes: comparative evolution. In: Cooper, David Neil and Kehrer-Sawatzki, Hildegard eds. Handbook of human molecular evolution, Chichester: John Wiley, pp. 1242-1249.

Cooper, David Neil 2008. Insertion and deletion of exons during human gene evolution. In: Cooper, David Neil and Kehrer-Sawatzki, Hildegard eds. Handbook of human molecular evolution, Chichester: John Wiley, pp. 960-966.

Kehrer-Sawatzki, Hildegard and Cooper, David Neil 2008. Sequencing the human genome: novel insights into its structure and function. In: Cooper, David Neil and Kehrer-Sawatzki, Hildegard eds. Handbook of human molecular evolution, Chichester: John Wiley, pp. 580-588.

Cooper, David Neil and Kehrer-Sawatzki, Hildegard 2008. The Chimpanzee Genome Project. In: Cooper, David Neil and Kehrer-Sawatzki, Hildegard eds. Handbook of human molecular evolution, Chichester: John Wiley, pp. 1486-1500.

Gibbs, Richard A., Worley, Kim C., Kehrer-Sawatzki, Hildegard and Cooper, David Neil 2008. The sequencing of the rhesus macaque genome and its comparison with the genome sequences of human and chimpanzee. In: Cooper, David Neil and Kehrer-Sawatzki, Hildegard eds. Handbook of human molecular evolution, Chichester: John Wiley, pp. 1473-1485.

Chen, Jian-Min, Cooper, David Neil and Férec, Claude 2008. Pathological missense mutations provide new insights into the evolution of trypsinogen genes. In: Cooper, David Neil and Kehrer-Sawatzki, Hildegard eds. Handbook of human molecular evolution, Chichester: John Wiley, pp. 1532-1539.

Chen, Jian-Min, Masson, Emmanuelle, Macek, Milan, Raguénès, Odile, Piskackova, Tereza, Fercot, Brigitte, Fila, Libor, Cooper, David Neil, Audrézet, Marie-Pierre and Férec, Claude 2008. Detection of two Alu insertions in the CFTR gene. Journal of Cystic Fibrosis 7 (1) , pp. 37-43. 10.1016/j.jcf.2007.04.001

Kehrer-Sawatzki, Hildegard and Cooper, David Neil 2008. Mosaicism in sporadic neurofibromatosis type 1: variations on a theme common to other hereditary cancer syndromes? Journal of Medical Genetics 45 (10) , pp. 622-631. 10.1136/jmg.2008.059329

Bacolla, A., Larson, J. E., Collins, J. R., Li, J., Milosavljevic, A., Stenson, Peter Daniel, Cooper, David Neil and Wells, R. D. 2008. Abundance and length of simple repeats in vertebrate genomes are determined by their structural properties. Genome Research 18 (10) , pp. 1545-1553. 10.1101/gr.078303.108

Steinmann, Katharina, Cooper, David Neil, Kluwe, Lan, Chuzhanova, Nadia A., Senger, Cornelia, Serra, Eduard, Lazaro, Conxi, Gilaberte, Montserrat, Wimmer, Katharina, Mautner, Viktor-Felix and Kehrer-Sawatzki, Hildegard 2007. Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination. American Journal of Human Genetics 81 (6) , pp. 1201-1220. 10.1086/522089

Chen, Jian-Min, Cooper, David Neil, Chuzhanova, Nadia, Férec, Claude and Patrinos, George P. 2007. Gene conversion: mechanisms, evolution and human disease. Nature Reviews Genetics 8 (10) , pp. 762-775. 10.1038/nrg2193

Cooper, David Neil 2007. Insertion and deletion of exons during human gene evolution. eLS, Wiley-Blackwell, (10.1002/9780470015902.a0005088.pub2)

Masson, Emmanuelle, Maréchal, Cédric Le, Levy, Philippe, Chuzhanova, Nadia, Ruszniewski, Philippe, Cooper, David Neil, Chen, Jian-Min and Férec, Claude 2007. Co-inheritance of a novel deletion of the entire SPINK1 gene with a CFTR missense mutation (L997F) in a family with chronic pancreatitis. Molecular Genetics and Metabolism 92 (1-2) , pp. 168-175. 10.1016/j.ymgme.2007.06.006

Leybrand, Sabine, Rossier, Eva, Barbi, Gotthold, Cooper, David Neil and Kehrer-Sawatzki, Hildegard 2007. Molecular cytogenetic characterization of two independent karyotypic anomalies in a patient with severe mental retardation and juvenile idiopathic arthritis. Genomic Medicine 1 (1-2) , pp. 65-73. 10.1007/s11568-007-9008-3

Vyletal, Petr, Sokolová, Jitka, Cooper, David Neil, Kraus, Jan P., Krawczak, Michael, Pepe, Guglielmina, Rickards, Olga, Koch, Hans G., Linnebank, Michael, Kluijtmans, Leo A. J., Blom, Henk J., Boers, Godfried H. J., Gaustadnes, Mette, Skovby, Flemming, Wilcken, Bridget, Wilcken, David E. L., Andria, Generoso, Sebastio, Gianfranco, Naughten, Eileen R., Yap, Sufin, Ohura, Toshihiro, Pronicka, Ewa, Laszlo, Aranka and Kozich, Viktor 2007. Diversity of cystathionine β-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion. Human Mutation 28 (3) , pp. 255-264. 10.1002/humu.20430

Kehrer-Sawatzki, Hildegard and Cooper, David Neil 2007. Understanding the recent evolution of the human genome: insights from human-chimpanzee genome comparisons. Human Mutation 28 (2) , pp. 99-130. 10.1002/humu.20420

Krawczak, Michael, Thomas, Nick S.T., Hundrieser, Bernd, Mort, Matthew, Wittig, Michael, Hampe, Jochen and Cooper, David Neil 2007. Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing. Human Mutation 28 (2) , pp. 150-158. 10.1002/humu.20400

Gibbs, Richard. A., Rogers, Jeffrey, Katz, Michael G., Ball, Edward Vincent, Cooper, David Neil, Stenson, Peter Daniel and Zweig, Ann S. 2007. Evolutionary and biomedical insights from the rhesus macaque genome. Science 316 (5822) , pp. 222-34. 10.1126/science.1139247

Szamalek, J. M., Cooper, David Neil, Hoegel, J., Hameister, H. and Kehrer-Sawatzki, H. 2007. Chromosomal speciation of humans and chimpanzees revisited: studies of DNA divergence within inverted regions. Cytogenetic and Genome Research 116 (1-2) , pp. 53-60. 10.1159/000097417

Xie, F., Wang, X., Cooper, David Neil, Lan, F., Fang, Y., Cai, X., Wang, Z. and Wang, H. 2007. Compound heterozygosity for two novel mutations (1203insG/Y1456X) in the von Willebrand factor gene causing type 3 von Willebrand disease. Haemophilia 13 (5) , pp. 645-648. 10.1111/j.1365-2516.2007.01514.x

Chuzhanova, Nadia, Cooper, David Neil, Ferec, Claude and Chen, Jian-Min 2007. Searching for potential microRNA-binding site mutations amongst known disease-associated 3' UTR variants. Genomic Medicine 1 (1-2) , pp. 29-33. 10.1007/s11568-006-9000-3

Chen, Jian-Min, Férec, Claude and Cooper, David Neil 2007. Mechanism of Alu integration into the human genome. Genomic Medicine 1 (1-2) , p. 9. 10.1007/s11568-007-9002-9

Vogt, Guillaume, Vogt, Benoît, Chuzhanova, Nadia, Julenius, Karin, Cooper, David Neil and Casanova, Jean-Laurent 2007. Gain-of-glycosylation mutations. Current Opinion in Genetics & Development 17 (3) , pp. 245-251. 10.1016/j.gde.2007.04.008

Simon, Jürgen, Paslack, Rainer, Robienski, Jürgen, Cooper, David Neil, Goebel, Jürgen W. and Krawczak, Michael 2007. A legal framework for biobanking: the German experience. European Journal of Human Genetics 15 (5) , pp. 528-532. 10.1038/sj.ejhg.5201810

Stenson, Peter Daniel, Ball, Edward, Howells, Katy, Phillips, Andrew, Mort, Matthew Edwin and Cooper, David Neil 2007. Human Gene Mutation Database: towards a comprehensive central mutation database [Letter]. Journal of Medical Genetics 45 (2) , pp. 124-126. 10.1136/jmg.2007.055210

Antonarakis, S. E. and Cooper, David Neil 2007. Mutations in human genetic disease: nature and consequences. In: Rimoin, D. L., Connor, J. M., Pyeritz, R. E. and Korf, B. R. eds. Emery and Rimoin's Principles and Practice of Medical Genetics (5th ed.), Edinburgh: Churchill Livingstone, pp. 101-128.

Goidts, Violaine, Cooper, David Neil, Armengol, Lluis, Schempp, Werner, Conroy, Jeffrey, Estivill, Xavier, Nowak, Norma, Hameister, Horst and Kehrer-Sawatzki, Hildegard 2006. Complex patterns of copy number variation at sites of segmental duplications: an important category of structural variation in the human genome. Human Genetics 120 (2) , pp. 270-284. 10.1007/s00439-006-0217-y

Chen, Jian-Min, Férec, Claude and Cooper, David Neil 2006. A systematic analysis of disease-associated variants in the 3′ regulatory regions of human protein-coding genes I: general principles and overview. Human Genetics 120 (1) , pp. 1-21. 10.1007/s00439-006-0180-7

Cooper, David Neil 2006. Primate evolution: gene loss and inactivation. eLS, Wiley-Blackwell, (10.1038/npg.els.0005121)

Cooper, David Neil 2006. Pseudogenes and their evolution. eLS, Wiley-Blackwell, (10.1038/npg.els.0005118)

Cooper, David Neil 2006. Gross insertions and mcroinsertions in evolution. eLS, Wiley-Blackwell, (10.1038/npg.els.0005095)

Han, Song, Cooper, David Neil and Bowden, Paul Edward 2006. Utilization of a cryptic noncanonical donor splice site in the KRT14 gene causes a mild form of epidermolysis bullosa simplex. British Journal of Dermatology 155 (1) , pp. 201-3. 10.1111/j.1365-2133.2006.07269.x

Horan, Martin, Newsway, Vicky, Yasmin, Y., Lewis, Mark D., Easter, Tammy E., Rees, D. Aled, Mahto, Arti, Millar, David S., Procter, Annie M., Scanlon, Maurice F., Wilkinson, Ian B., Hall, Ian P., Wheatley, Amanda, Blakey, John, Bath, Philip M. W., Cockcroft, John R., Krawczak, Michael and Cooper, David Neil 2006. Genetic variation at the growth hormone (GH1) and growth hormone receptor (GHR) loci as a risk factor for hypertension and stroke. Human Genetics 119 (5) , pp. 527-540. 10.1007/s00439-006-0166-5

Xie, Fei, Wang, Xuefeng, Cooper, David Neil, Chuzhanova, Nadia, Fang, Yi, Cai, Xiaohong, Wang, Zhenyi and Wang, Hongli 2006. A novel Alu-mediated 61-kb deletion of the von Willebrand factor (VWF) gene whose breakpoints co-locate with putative matrix attachment regions. Blood Cells, Molecules, and Diseases 36 (3) , pp. 385-391. 10.1016/j.bcmd.2006.03.003

Vogt, Guillaume, Chapgier, Ariane, Chuzhanova, Nadia, Feinberg, Jacqueline, Fieschi, Claire, Boisson-Dupuis, Stephanie, Alcais, Alexandre, Abel, Laurent, Cooper, David Neil and Casanova, Jean-Laurent 2006. Les mutations « gain de glycosylation ». medecine/sciences 22 (5) , pp. 480-482. 10.1051/medsci/2006225480

Baser, Michael E. and Cooper, David Neil 2006. The distribution of constitutional and somatic mutations in the neurofibromatosis 2 gene [review]. Human Mutation 27 (4) , pp. 297-306. 10.1002/humu.20317

Goidts, Violaine, Armengol, Lluis, Schempp, Werner, Conroy, Jeffrey, Nowak, Norma, Müller, Stefan, Cooper, David Neil, Estivill, Xavier, Enard, Wolfgang, Szamalek, Justyna M., Hameister, Horst and Kehrer-Sawatzki, Hildegard 2006. Identification of large-scale human-specific copy number differences by inter-species array comparative genomic hybridization. Human Genetics 119 (1-2) , pp. 185-198. 10.1007/s00439-005-0130-9

Bouffler, S. D., Bridges, B. A,, Cooper, David Neil, Dubrova, Y., MacMillan, T. J., Thacker, J., Wright, E. G. and Waters, R. 2006. Assessing radiation-associated mutational risk to the germline: repetitive DNA sequences as mutational targets and biomarkers. Radiation Research 165 (3) , pp. 249-268.

Antonarakis, Stylianos E and Cooper, David N. 2006. Mutations in human genetic disease. eLS, Wiley-Blackwell, (10.1038/npg.els.0005471)

Tredano, Mohammed, Cooper, David Neil, Stuhrmann, Manfred, Christodoulou, John, Chuzhanova, Nadia A., Roudot-Thoraval, Françoise, Boëlle, Pierre-Yves, Elion, Jacques, Jeanpierre, Marc, Feingold, Josué, Couderc, Rémy and Bahuau, Michel 2006. Origin of the prevalentSFTPBindel g.1549C?>?GAA (121ins2) mutation causing surfactant protein B (SP-B) deficiency. American Journal of Medical Genetics Part A 140A (1) , pp. 62-69. 10.1002/ajmg.a.31050

Szamalek, Justyna M., Goidts, Violaine, Searle, Jeremy B., Cooper, David Neil, Hameister, Horst and Kehrer-Sawatzki, Hildegard 2006. The chimpanzee-specific pericentric inversions that distinguish humans and chimpanzees have identical breakpoints in Pan troglodytes and Pan paniscus. Genomics 87 (1) , pp. 39-45. 10.1016/j.ygeno.2005.09.003

Cooper, David Neil, Stenson, Peter Daniel and Chuzhanova, N. A. 2006. The Human Gene Mutation Database (HGMD) and its exploitation in the study of mutational mechanisms. Current Protocols in Bioinformatics 1 (1.13) 10.1002/0471250953.bi0113s12

Upadhyaya, Meena and Cooper, David Neil 2006. Neurofibromatosis Type 1 (NF1), genetics. In: Ganten, Detlev, Ruckpaul, Klaus, Birchmeier, Walter, Epplen, Jörg T., Genser, Klaus, Gossen, Manfred, Kersten, Birgit, Lehrach, Hans, Oschkinat, Hartmut, Ruiz, Patrizia, Schmieder, Peter, Wanker, Erich and Nolte, Christiane eds. Encyclopedic Reference of Genomics and Proteomics in Molecular Medicine, Springer, pp. 1271-1275. (10.1007/3-540-29623-9_1190)

Kehrer-Sawatzki, Hildegard and Cooper, David Neil 2006. Structural divergence between the human and chimpanzee genomes. Human Genetics -Berlin- 120 (6) , pp. 759-778. 10.1007/s00439-006-0270-6

Chen, Jian-Min, Férec, Claude and Cooper, David Neil 2006. LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease: mutation detection bias and multiple mechanisms of target gene disruption. Journal of Biomedicine and Biotechnology 2006 , 56182. 10.1155/JBB/2006/56182

Chen, Jian-Min, Férec, Claude and Cooper, David Neil 2006. A systematic analysis of disease-associated variants in the 3′ regulatory regions of human protein-coding genes II: the importance of mRNA secondary structure in assessing the functionality of 3′ UTR variants. Human Genetics 120 (3) , pp. 301-333. 10.1007/s00439-006-0218-x

Szamalek, Justyna M., Goidts, Violaine, Cooper, David Neil, Hameister, Horst and Kehrer-Sawatzki, Hildegard 2006. Characterization of the human lineage-specific pericentric inversion that distinguishes human chromosome 1 from the homologous chromosomes of the great apes. Human Genetics 120 (1) , pp. 126-138. 10.1007/s00439-006-0209-y

Bacolla, A., Collins, J. R., Gold, B., Chuzhanova, Nadia, Yi, M., Stephens, R. M., Stefanov, S., Olsh, A., Jakupciak, J. P., Dean, M., Lempicki, R. A., Cooper, David Neil and Wells, R. D. 2006. Long homopurine•homopyrimidine sequences are characteristic of genes expressed in brain and the pseudoautosomal region. Nucleic Acids Research 34 (9) , pp. 2663-2675. 10.1093/nar/gkl354

Férec, Claude, Casals, Teresa, Chuzhanova, Nadia, Macek, Milan, Bienvenu, Thierry, Holubova, Andrea, King, Caitriona, McDevitt, Trudi, Castellani, Carlo, Farrell, Philip M, Sheridan, Molly, Pantaleo, Sarah-Jane, Loumi, Ourida, Messaoud, Taieb, Cuppens, Harry, Torricelli, Francesca, Cutting, Garry R, Williamson, Robert, Ramos, Maria Jesus Alonso, Pignatti, Pier Franco, Raguénès, Odile, Cooper, David Neil, Audrézet, Marie-Pierre and Chen, Jian-Min 2006. Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms. European Journal of Human Genetics 14 (5) , pp. 567-576. 10.1038/sj.ejhg.5201590

Abeysinghe, S. S., Chuzhanova, N. and Cooper, David Neil 2006. Gross deletions and translocations in human genetic disease. Genome and Disease 1 , pp. 17-34. 10.1159/000092498

Upadhyaya, Meena and Cooper, David Neil 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, David Neil and Cockcroft, John Ronald 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.

Chen, J. M., Chuzhanova, N., Stenson, Peter Daniel, Ferec, C. and Cooper, David Neil 2005. Intrachromosomal serial replication slippage in trans gives rise to diverse genomic rearrangements involving inversions. Human Mutation 26 (4) , pp. 363-373. 10.1002/humu.20230

Berg, Lutz-Peter and Cooper, David 2005. Genes: types. eLS, Wiley-Blackwell, (10.1038/npg.els.0005016)

Chen, J. M., Stenson, Peter Daniel, Cooper, David Neil and Ferec, C. 2005. A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease [review]. Human Genetics -Berlin- 117 (5) , pp. 411-427. 10.1007/s00439-005-1321-0

Consoli, Claudia, Moss, Celia, Green, S., Balderson, D., Cooper, David Neil and Upadhyaya, Meena 2005. Gonosomal mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmental neurofibromatosis type 1. Journal of Investigative Dermatology 125 (3) , pp. 463-466. 10.1111/j.0022-202x.2005.23834.x

Goidts, V., Szamalek, J. M., de Jong, P. J., Cooper, David Neil, Chuzanova, N., Hameister, H. and Kehrer-Sawatzki, H. 2005. Independent intrachromosomal recombination events underlie the pericentric inversions of chimpanzee and gorilla chromosomes homologous to human chromosome 16. Genome Research 15 (9) , pp. 1232-1242. 10.1101/gr.3732505

Ball, Edward Vincent, Stenson, Peter Daniel, Abeysinghe, S. S., Krawczak, M, Cooper, David Neil and Chuzanhova, N. A. 2005. Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity. Human Mutation 26 (3) , pp. 205-213. 10.1002/humu.20212

Chen, J. M., Chuzhanova, N., Stenson, Peter Daniel, Ferec, C and Cooper, David Neil 2005. Complex gene rearrangements caused by serial replication slippage. Human Mutation 26 (2) , pp. 125-134. 10.1002/humu.20202

Evans, Julie C., Archer, Hayley Louise, Colley, James, Ravn, Kirstine, Nielsen, Jytte Bieber, Kerr, Alison, Williams, Elizabeth, Christodoulou, John, Gécz, Jozef, Jardine, Philip E., Wright, Michael J., Pilz, Daniela, Lazarou, Lazarus, Cooper, David Neil, Sampson, Julian Roy, Butler, Rachel, Whatley, Sharon D. and Clarke, Angus John 2005. Early onset seizures and Rett-like features associated with mutations in CDKL5. European Journal of Human Genetics 13 (10) , pp. 1113-1120. 10.1038/sj.ejhg.5201451

Vogt, Guillaume, Chapgier, Ariane, Yang, Kun, Chuzhanova, Nadia, Feinberg, Jacqueline, Fieschi, Claire, Boisson-Dupuis, Stephanie, Alcais, Alexandre, Filipe-Santos, Orchidee, Bustamante, Jacinta, Beaucoudrey, Ludovic de, Al-Mohsen, Ibrahim, Al-Hajjar, Sami, Al-Ghonaium, Abdulaziz, Adimi, Pierre, Mirsaeidi, Mehdi, Khalilzadeh, Soheila, Rosenzweig, Sergio, Martin, Oscar de la Calle, Bauer, Thomas R, Puck, Jennifer M, Ochs, Hans D, Furthner, Dieter, Engelhorn, Carolin, Belohradsky, Bernd, Mansouri, Davood, Holland, Steven M, Schrieber, Robert D, Abel, Laurent, Cooper, David Neil, Casanova, Jean -Laurent and Soudais, Claire 2005. Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations. Nature Genetics 37 (7) , pp. 692-700. 10.1038/ng1581

Szamalek, J. M., Goidts, V., Chuzhanova, N., Hameister, H., Cooper, David Neil and Kehrer-Sawatzki, H. 2005. Molecular characterisation of the pericentric inversion that distinguishes human chromosome 5 from the homologous chimpanzee chromosome. Human Genetics 117 (2-3) , pp. 168-176. 10.1007/s00439-005-1287-y

Szamalek, Justyna M., Cooper, David Neil, Schempp, Werner, Minich, Peter, Kohn, Matthias, Hoegel, Josef, Goidts, Violaine, Hameister, Horst and Kehrer-Sawatzki, Hildegard 2005. Polymorphic micro-inversions contribute to the genomic variability of humans and chimpanzees. Human Genetics 119 (1-2) , pp. 103-112. 10.1007/s00439-005-0117-6

Chen, J. M., Chuzhanova, N., Senson, P. D., Ferec, D. and Cooper, David Neil 2005. Meta-analysis of gross insertions causing human genetic disease: novel mutational mechanisms and the role of replication slippage. Human Mutation 25 (2) , pp. 207-221. 10.1002/humu.20133

Kehrer-Sawatzki, H., Sandig, C., Chuzhanova, N., Goidts, V., Szamalek, J. M., Tanzer, S., Muller, S., Platzer, M., Cooper, David Neil and Hamester, H. 2005. Breakpoint analysis of the pericentric inversion distinguishing human chromosome 4 from the homologous chromosome in the chimpanzee (Pan troglodytes). Human Mutation 25 (1) , pp. 45-55. 10.1002/humu.20116

Archer, Hayley Louise, Whatley, Sharon D., Evans, Julie C., Ravine, D., Huppke, P., Kerr, A., Bunyan, D., Kerr, B., Sweeney, E., Davies, S. J., Reardon, W., Horn, J., MacDermot, K. D., Smith, R. A., Magee, A., Donaldson, A., Crow, Y., Hermon, G., Miedzybrodzka, Z., Cooper, David Neil, Lazarou, L., Butler, R., Sampson, Julian Roy, Pilz, Daniela, Laccone, F. and Clarke, Angus John 2005. Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients. Journal of Medical Genetics 43 (5) , pp. 451-456. 10.1136/jmg.2005.033464

Cooper, David Neil 2005. The molecular genetics of lung cancer. Heidelberg: Springer Verlag. 10.1007/b138362

Horan, M. P., Osborn, M., Cooper, David Neil and Upadhyaya, Meena 2004. Functional analysis of polymorphic variation within the promoter and 5' untranslated region of the neurofibromatosis type 1 (NF1) gene. American Journal of Medical Genetics 131 (3) , pp. 227-231. 10.1002/ajmg.a.30358

Bacolla, Albino, Jaworski, Adam, Larson, Jacquelynn E., Jackupciak, John P., Chuzhanova, Nadia, Abeysinghe, Shaun A., O'Connell, Catherine D., Cooper, David Neil and Wells, Robert D. 2004. Breakpoints of gross deletions coincide with non-B DNA conformations. Proceedings of the National Academy of Sciences 101 (39) , pp. 14162-14167. 10.1073/pnas.0405974101

Audrezet, M. P., Chen, J. M., Raquenes, O., Chuzhanova, N., Giteau, K., Le Marechal, C., Quere, I., Cooper, David Neil and Ferec, C. 2004. Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms. Human Mutation 23 (4) , pp. 343-357. 10.1002/humu.20009

Lewis, Mark D., Horan, Martin Patrick, Millar, David Stuart, Newsway, Vicky, Easter, Tammy Elaine, Fryklund, Linda, Gregory, John Welbourn, Norin, Martin, Del Valle, Cristóbal-Jorge, López-Siguero, Juan Pedro, Cañete, Ramón, López-Canti, Luis Fernando, Díaz-Torrado, Nieves, Espino, Rafael, Ulied, Angels, Scanlon, Maurice Francis, Procter, Annie M. and Cooper, David N. 2004. A novel dysfunctional growth hormone variant (Ile179Met) exhibits a decreased ability to activate the extracellular signal-regulated kinase pathway. Journal of Clinical Endocrinology & Metabolism 89 (3) , pp. 1068-1075. 10.1210/jc.2003-030652

Abeysinghe, S. S., Stenson, Peter Daniel, Krawczak, M. and Cooper, David Neil 2004. Gross Rearrangement Breakpoint Database (GRaBD)[review]. Human Mutation 23 (3) , pp. 219-221. 10.1002/humu.20006

Upadhyaya, Meena, Han, S., Consoli, Claudia, Majounie, Elisa, Horan, M., Thomas, Nicholas Stuart, Potts, C., Griffiths, S., Ruggieri, M., von Deimling, A. and Cooper, David Neil 2004. Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors. Human Mutation 23 (2) , pp. 134-146. 10.1002/humu.10305

Huang, Hui, Winter, Eitan E., Wang, Huajun, Weinstock, Keith G., Xing, Heming, Goodstadt, Leo, Stenson, Peter Daniel, Cooper, David Neil and Smith, Douglas 2004. Evolutionary conservation and selection of human disease gene orthologs in the rat and mouse genomes. Genome Biology (5) , R47-R47. 10.1186/gb-2004-5-7-r47

Cooper, David Neil and Upadhyaya, Meena, eds. 2004. Fascioscapulohumeral muscular dystrophy: clinical medicine and molecular cell biology. Oxford: Taylor & Francis.

Upadhyaya, Meena, Thompson, P., Han, S. and Cooper, David Neil 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, David Neil and Upadhyaya, Meena 2004. Introduction and overview of FSHD. In: Upadhyaya, Meena and Cooper, David Neil eds. Facioscapulohumeral Muscular Dystrophy: Clinical Medicine and Molecular Cell Biology, Oxford: Taylor & Francis, pp. 1-16.

Chuzhanova, N. A. and Cooper, David Neil 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, Meena and Cooper, David Neil 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)

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Chandra, S., Kapur, R., Chuzhanova, N., Summey, V., Prentice, D., Barker, J., Cooper, David Neil and Williams, D. A. 2003. A rare complex DNA rearrangement in the murine Steel gene results in exon duplication and a lethal phenotype. Blood -New York- 102 (10) , pp. 3548-3555. 10.1182/blood-2003-05-1468

Abeysinghe, Shaun Shihantha, Chuzhanova, Nadia, Krawczak, Michael, Ball, Edward Vincent and Cooper, David Neil 2003. Translocation and gross deletion breakpoints in human inherited disease and cancer I: nucleotide composition and recombination-associated motifs. Human Mutation 22 (3) , pp. 229-44. 10.1002/humu.10254

Chuzhanova, N., Abeysinghe, S. S., Krawczak, M. and Cooper, David Neil 2003. Translocation and gross deletion breakpoints in human inherited disease and cancer II: Potential involvement of repetitive sequence elements in secondary structure formation between DNA ends. Human Mutation 22 (3) , pp. 245-251. 10.1002/humu.10253

Lemmers, R. J., Osborn, M., Haaf, T., Frants, R. R., Padberg, G. W., Cooper, David Neil, Van der Maarel, S. M. and Upadhyaya, Meena 2003. D4F104S1 deletion in facioscapulohumeral muscular dystrophy (FSHD): phenotype, size and detection. Neurology 61 (2) , pp. 178-183.

Stenson, Peter Daniel, Ball, Edward Vincent, Mort, Matthew Edwin, Phillips, Andrew David, Shiel, J. A., Thomas, Nicholas Stuart, Abeysinghe, S. S., Krawczak, M. and Cooper, David Neil 2003. Human Gene Mutation Database (HGMD): 2003 update. Human Mutation 21 (6) , pp. 577-581. 10.1002/humu.10212

Millar, David Stuart, Lewis, Mark David, Horan, Martin Patrick, Newsway, Victoria Elizabeth, Easter, Tammy Elaine, Gregory, John Welbourn, Fryklund, Linda, Norin, Martin, Crowne, Elizabeth C., Davies, Sally J., Edwards, Phillip, Kirk, Jeremy, Waldron, Kim, Smith, Patricia J., Phillips III, John A., Scanlon, Maurice Francis, Krawczak, Michael, Cooper, David Neil and Procter, Annie M. 2003. Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature. Human Mutation 21 (4) , pp. 424-440. 10.1002/humu.10168

Horan, M., Millar, David Stuart, Hedderich, J., Lewis, G., Newsway, Vicky, Mo, N., Fryklund, L., Procter, A. M., Krawczak, M. and Cooper, David Neil 2003. Human growth hormone 1 (GH1) gene expression: complex haplotype-dependent influence of polymorphic variation in the proximal promoter and locus control region. Human Mutation 21 (4) , pp. 408-423. 10.1002/humu.10167

Turner, C., Kiloran, C., Thomas, Nicholas Stuart, Rosenberg, M., Chuzhanova, N. A., Johnston, J., Kemel, Y., Cooper, David Neil and Biesecker, L. G. 2003. Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer. Human Genetics 112 (3) , pp. 303-309. 10.1007/s00439-002-0892-2

Chuzhanova, N. A., Anassis, E. J., Ball, Edward Vincent, Krawczak, M. and Cooper, David Neil 2003. Meta-analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexity. Human Mutation 21 (1) , pp. 28-44. 10.1002/humu.10146

Upadhyaya, Meena, Majounie, Elisa, Thompson, P., Han, S., Consoli, Claudia, Krawczak, M., Cordeiro, I. and Cooper, David Neil 2003. Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1. Human Genetics 112 (1) , pp. 12-17. 10.1007/s00439-002-0840-1

Cooper, David N., ed. 2003. Nature encyclopedia of the human genome. London: Nature Publishing Group.

Castle, B., Baser, M. E., Huson, S. M., Cooper, David Neil and Upadhyaya, Meena 2003. Evaluation of genotype-phenotype correlations in neurofibromatosis type 1 [Letter]. Journal of Medical Genetics 40 (10) , 109e. 10.1136/jmg.40.10.e109

Cooper, David Neil 2003. Exons: insertion and deletion during evolution. In: Cooper, David Neil ed. Encyclopedia of the Human Genome, Vol. 2. London: Nature Publishing Group, pp. 394-398.

Cooper, David Neil 2003. Gene deletions in evolution. In: Cooper, David Neil ed. Encyclopedia of the Human Genome, Vol. 2. London: Nature Publishing Group, pp. 613-617.

Berg, L-P. and Cooper, David Neil 2003. Genes: types. In: Cooper, David Neil ed. Encyclopedia of the Human Genome, Vol. 2. London: Nature Publishing Group, pp. 684-693.

Cooper, David Neil 2003. Gross insertions and microinsertions in evolution. In: Cooper, David Neil ed. Encyclopedia of the Human Genome, Vol. 3. London: Nature Publishing Group, pp. 138-142.

Antonarakis, S. E. and Cooper, David Neil 2003. Mutations in human genetic disease: nature and consequences. In: Cooper, David Neil ed. Encyclopedia of the Human Genome, London: Nature Publishing Group, pp. 227-253.

Cooper, David Neil 2003. Primate evolution: gene loss and inactivation. In: Cooper, David Neil ed. Encyclopedia of the Human Genome, London: Nature Publishing Group, pp. 700-704.

Cooper, David Neil 2003. Pseudogenes and their evolution. In: Cooper, David Neil ed. Encyclopedia of the Human Genome, London: Nature Publishing Group, pp. 900-909.

Upadhyaya, Meena, Osborn, M. and Cooper, David Neil 2003. Detection of NF1 mutations utilizing the protein truncation test (PTT). In: Potter, Nicholas T. ed. Neurogenetics, Vol. 217. Methods in Molecular Biology, Humana Press, pp. 315-328. (10.1385/1-59259-330-5:315)

Terp, B. N., Cooper, David Neil, Christensen, I. T., Jorgensen, F. S., Bross, P., Gregersen, N. and Krawczak, M. 2002. Assessing the relative importance of the biophysical properties of amino acid substitutions associated with human genetic disease. Human Mutation 20 (2) , pp. 98-109. 10.1002/humu.10095

Cooper, David Neil 2002. Human gene mutation in pathology and evolution [review]. Journal of Inherited Metabolic Disease 25 (3) , pp. 157-182.

Upadhyaya, Meena and Cooper, David Neil 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, David Neil, 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, David Neil 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

Cooper, David Neil, 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.

Antonarakis, S. E., Cooper, David Neil and Krawczak, M. 2002. Mutations in human disease: nature and consequences. In: Rimoin, D. L., Connor, J. M., Pyeritz, R. E. and Korf, B. R. eds. Emery & Rimoin's Principles and Practice of Medical Genetics (4th ed.), Edinburgh: Churchill Livingstone, pp. 83-103.

Han, S. S., Cooper, David Neil and Upadhyaya, Meena 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, David Neil 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

Martín, M. A., Rubio, J. C., García, A., Fernández, M. A., Campos, Y., Krawczak, M., Cooper, David Neil and Arenas, J. 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

Winter, H., Langbein, L., Krawczak, M., Cooper, David Neil, Jave-Suarez, L. F., Rogers, M. A., Praetzel, S., Heidt, P. J. and Schweizer, J. 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.S., Krawczak, M., Palmer, S. R., Johansen, B. N. and Cooper, David Neil 2001. The frequency of inherited disorders database. Human Genetics -Berlin- 108 (1) , pp. 72-74. 10.1007/s004390000408

Upadhyaya, Meena and Cooper, David Neil 2001. The molecular genetics of facioscapulohumeral muscular dystrophy. In: Emery, Alan E. H. ed. The Muscular Dystrophies, Oxford: Oxford University Press, pp. 137-172.

Antonarakis, S. E., Krawczak, M. and Cooper, David Neil 2001. The nature and mechanisms of human gene mutation. In: Scriver, C. R., Beaudet, A. L., Sly, W. S., Valle, D., Vogelstein, B. and Childs, B. eds. The Metabolic and Molecular Bases of Inherited Disease 8th ed., New York: McGraw-Hill, pp. 343-377. (10.1036/ommbid.20)

Antonarakis, Stylianos E., Krawczak, Michael and Cooper, David Neil 2000. Disease-causing mutations in the human genome. European Journal of Pediatrics 159 (S3) , S173-S178. 10.1007/PL00014395

Shamsher, M. K., Chuzhanova, N. A., Friedman, B., Scopes, D. A., Alhaq, A., Millar, D. S., Cooper, David Neil and Berg, L. P. 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., Borgel, D., Sala, N., Epinosa-Parrilla, Y., Simmonds, R., Rezende, S., Lind, B., Mannhalter, C., Pabinger, I., Reitsma, P. H., Formstone, C., Cooper, David Neil, Saito, H., Suzuki, K., Bernardi, F. and Aiach, M. 2000. Protein S deficiency: a database of mutations - summary of the first update. Thrombosis And Haemostasis 84 (5) , p. 918.

Krawczak, M., Chuzhanova, N. A., Stenson, Peter Daniel, Johansen, B. N., Ball, Edward Vincent and Cooper, David Neil 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., Kemball-Cook, G., McVey, J. H., Tuddenham, E. G., Mumford, A. D., Attock, G. B., Reverter, J. C., Lanir, N., Parapia, L. A., Reynaud, J., Meili, E., von Felton, A., Martinowitz, U., Prangnell, D. R., Krawczak, M. and Cooper, David Neil 2000. Molecular analysis of the genotype-phenotype relationship in factor VII deficiency. Human Genetics -Berlin- 107 (4) , pp. 327-342. 10.1007/s004390000373

Millar, David Stuart, Johansen, B., Berntorp, E., Mindford, A., Bolton-Maggs, P., Wensley, R., Kakkar, V., Schulman, S., Torres, A., Bosch, N. and Cooper, David Neil 2000. Molecular genetic analysis of severe protein C deficiency. Human Genetics 106 (6) , pp. 646-653. 10.1007/s004390050038

Chuzhanova, Nadia A., Krawczak, M., Nemytikova, L.A., Gusev, V. D. and Cooper, David Neil 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, David Neil and Upadhyaya, Meena 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, David Neil and Upadhyaya, Meena 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, David Stuart, Elliston, L., Deex, P., Krawczak, M., Wacey, A. I., Reynaud, J., Nieuwenhuis, H. K., Bolton-Maggs, P., Mannucci, P. M., Reverter, J. C., Cachia, P., Pasi, K. J., Layton, D. M. and Cooper, David Neil 2000. Molecular analysis of the genotype-phenotype relationship in factor X deficiency. Human Genetics -Berlin- 106 (2) , pp. 249-257. 10.1007/s004390051035

Cheadle, Jeremy Peter, Gill, Harinder, Fleming, Nick, Maynard, Julie Helen, Kerr, Alison, Leonard, Helen, Krawczak, Michael, Cooper, David Neil, Lynch, Sally, Thomas, Nicholas Stuart Tudor, Hughes, Helen, Hulten, Maj, Ravine, David, Sampson, Julian Roy and Clarke, Angus John 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, Edward Vincent, Fenton, I., Stenson, Peter Daniel, Abeysinghe, S., Thomas, N. and Cooper, David Neil 2000. Human gene mutation database-a biomedical information and research resource. Human Mutation 15 (1) , pp. 45-51. 10.1002/(sici)1098-1004(200001)15:1%3C45::aid-humu10%3E3.0.co;2-t

Krawczak, M., Chuzhanova, N. A. and Cooper, David Neil 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, David Neil, 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

Cooper, David Neil 1999. Human gene evolution. Oxford: BIOS Scientific.

Krawczak, M., Ball, Edward Vincengt, Stenson, Peter Daniel and Cooper, David Neil 1999. HGMD: the human gene mutation database. In: Letovsky., S. I. ed. Bioinformatics; databases and systems, Boston: Kluwer Academic Publishers, pp. 99-104.

Procter, A. M., Phillips, J. A. and Cooper, David Neil 1998. The molecular genetics of growth hormone deficiency [review]. Human Genetics -Berlin- 103 (3) , pp. 255-272. 10.1007/s004390050815

Hallam, P. J., Manucci, P., Tripodi, A., Bevan, D., Laursen, B., Tengborn, L., Wacey, A. and Cooper, David Neil 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, Edward Vincent and Cooper, David Neil 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, David Stuart, Krawczak, M. and Cooper, David Neil 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, David Neil 1998. p53 mutations, benzo[a]pyrene and lung cancer [review]. Mutagenesis 13 (4) , pp. 319-320. 10.1093/mutage/13.4.319

Upadhyaya, Meena, Ruggieri, M., Maynard, Julie Helen, Osborn, M., Hartog, C., Mudd, S., Penttinen, M., Cordeiro, I., Ponder, M., Ponder, B. A., Krawczak, M. and Cooper, David Neil 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, Meena and Cooper, David Neil, eds. 1998. Neurofibromatosis Type 1: from genotype to phenotype. Oxford: BIOS Scientific.

Cooper, David Neil, Ball, Edward V. and Krawczak, Michael 1998. The human gene mutation database. Nucleic Acids Research 26 (1) , pp. 285-287. 10.1093/nar/26.1.285

Upadhyaya, Meena and Cooper, David Neil 1998. The mutational spectrum in neurofibromatosis type 1 and its underlying mechanisms. Neurofibromatosis type 1: from genotype to phenotype, Human Molecular Genetics, Oxford: BIOS, pp. 65-88.

Cooper, David Neil, 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, Nomenclature and Cooper, David Neil (N.W.G.) 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

Wacey, A. I., Krawczak, M., Kemball-Cook, G. and Cooper, David Neil 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, David Neil, Millar, D. S., Wacey, A., Banner, D. W. and Tuddenham, E.G. 1997. Inherited factor VII deficiency: molecular genetics and pathophysiology [review]. Thrombosis and Haemostasis 78 (1) , pp. 151-160.

Cooper, David Neil, 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., Borgel, D., Ireland, H., Lane, D., Simmonds, R., Reitsma, P. H., Mannhalter, C., Pabinger, I., Saito, H., Suzuki, K., Formstone, C., Cooper, David Neil, Espinosa, Y., Sala, N., Bernadi, F. and Aiach, M. 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, David Neil 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., Bayston, T., Olds, R. J., Fitches, A. C., Cooper, David Neil, Millar, D. S., Jochmans, K., Perry, D. J., Okajima, K., Thein, S. L. and Emmerich, J. 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, Meena, Osborn, M. J., Maynard, Julie Helen, Kim, M. R., Tamanoi, F. and Cooper, David Neil 1997. Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene. Human Genetics -Berlin- 99 (1) , pp. 88-92. 10.1007/s004390050317

Krawczak, Michael and Cooper, David Neil 1997. The human gene mutation database. Trends in Genetics 13 (3) , pp. 121-122. 10.1016/S0168-9525(97)01068-8

Cooper, David Neil and Krawczak, Michael 1997. Venous thrombosis: from genes to clinical medicine. Garland Science.

Simioni, P., Kalafatis, M., Millar, D. S., Henderson, S. C., Luni, C., Cooper, David Neil 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., Soria, J. M., Formstone, C. J., Morell, M., Kakkar, W., Estivill, X., Sala, N. and Cooper, David Neil 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, David Neil 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, David Neil 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., Hallam, P. J., Tuddenham, E. G., Voke, J., Layton, M., Nicolaides, K., Hann, I. M. and Cooper, David Neil 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.

Lemoine, Nick and Cooper, David Neil, eds. 1996. Gene therapy. Oxford: BIOS Scientific.

Krawczak, M. and Cooper, David Neil 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, David Neil 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

Benzakour, O., Kanthou, C., Lupu, F., Dennehy, U., Goodwin, C., Scully, M. F., Kakkar, V. V. and Cooper, David Neil 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., Wacey, A. I., Berg, L. P., Rahman, S., Bevan, D., Rowley, M., Voke, J., Bernardi, F., Legnani, C., Simioni, P., Girolami, A., Tuddenham, E. G., Kakkar, W. and Cooper, David Neil 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, David Neil 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, David Neil 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, David Neil 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, David Neil 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, Farzin and Cooper, David Neil, eds. 1995. The functional analysis of the human genome. Oxford: BIOS Scientific.

Benzakour, O., Formstone, C., Rahman, S., Kanthou, C., Dennehy, U., Scully, M. F., Kakkar, V. V. and Cooper, David Neil 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, David Neil 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., Wacey, A. I., Mannucci, P. M., Legnani, C., Kuhnau, W., Krawczak, M., Kakkar, V. and Cooper, David Neil 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, David Neil 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, David Neil 1995. Mapping the human genome. In: Farzaneh, F. and Cooper, David Neil eds. The functional analysis of the human genome, Human Molecular Genetics, Oxford: BIOS, pp. 43-68.

Cooper, David Neil 1995. Structure and function in the human genome. In: Farzaneh, F. and Cooper, David Neil eds. The functional analysis of the human genome, Human Molecular Genetics, Oxford: BIOS, pp. 1-41.

Cooper, David Neil, Krawczak, M. and Antonarakis, S. E. 1995. The nature and mechanisms of human gene mutation. In: Scriver, C. R., Beaudet, A. L., Sly, W. S. and Valle, D. 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, David Neil 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, David Neil 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

Wacey, A., Krawczak, M., Kakkar, V.V. and Cooper, David Neil 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, David Neil 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., Wacey, A., Ribando, J., Melissari, E., Laursen, B., Woods, P., Kakkar, V. V. and Cooper, David Neil 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, David Stuart, Allgrove, J., Rodeck, C., Kakkar, V. V. and Cooper, David Neil 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, Edward G. D. and Cooper, David Neil 1994. The molecular genetics of haemostasis and its inherited disorders. Oxford Monographs on Medical Genetics, Oxford: Oxford University Press.

Cooper, David Neil 1994. The molecular genetics of familial venous thrombosis. Baillière's Clinical Haematology 7 (3) , pp. 637-674. 10.1016/S0950-3536(05)80102-7

Tuddenham, E. G. D., Schwaab, R., Seehafer, J., Millar, David Stuart, Gitschier, J., Higuchi, M., Bidichandani, S., Connor, J. M., Hoyer, L. W., Yoshioka, A., Peake, I. R., Olek, K., Kazazian, H. H., Lavergne, J. -M., Ginnaelli, F., Antonarakis, S. E. and Cooper, David Neil 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

Millar, David Stuart, Kakkar, V. V. and Cooper, David Neil 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. -P., Varon, D., Martinowitz, U., Wieland, K., Kakkar, V. V. and Cooper, David Neil 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, David Neil, Berg, Lutz-Peter, Kakkar, Vijay V. and Reiss, Jochen 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

Lane, D. A., Olds, R. J., Boisclair, M., Chowdhury, V., Thein, S. L., Cooper, David Neil, Blajchman, M., Perry, D., Emmerich, J. and Aiach, M. 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, David Neil 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.

Cooper, David Neil and Krawczak, Michael 1993. Human gene mutation. Oxford: BIOS Scientific.

Schmidtke, K. and Cooper, David Neil 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, David Neil 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, David Neil 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.

Takamlya, Osamu, Kemball-Cook, Geoffrey, Martin, David M. A., Cooper, David Neil, von Felten, Arthur, Melll, Esther, Hann, Ian, Prangnell, Dennis R., Lumley, Hllary, Tuddenham, Edward G. D. and McVey, John H. 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

Girolami, A., Simioni, P., Girolami, B., Marchiori, A., Millar, David Stuart, Bignell, P., Kakkar, V. V. and Cooper, David Neil 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, David Neil and Schmidtke, J. 1993. Diagnosis of human genetic disease using recombinant DNA. Human Genetics 92 (3) , pp. 211-236. 10.1007/BF00244464

Millar, David Stuart, Wacey, A. I., Voke, J., Kakkar, V. V. and Cooper, David Neil 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., Patracchini, P., Gemmati, D., Castaman, G., Rodeghiero, F., Wacey, A., Cooper, David Neil, Tuddenham, E. G. D. and Bernardi, F. 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, David Stuart, Grundy, C. B., Bignell, P., Moffat, E. H., Martin, R., Kakkar, V. V. and Cooper, David Neil 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, David Stuart, Grundy, C. B., Bignell, P., Mitchell, D. C., Corden, D., Woods, P., Kakkar, V. V. and Cooper, David Neil 1993. A novel nonsense mutation in the protein C (PROC) gene (Trp-29-->Term) causing recurrent venous thrombosis. Human Genetics 91 (2) , p. 196. 10.1007/BF00222726

Wacey, A. I., Pemberton, S., Cooper, David Neil, 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, David Neil 1993. Human gene mutations affecting RNA processing and translation. Annals of Medicine 25 (1) , pp. 11-17. 10.3109/07853899309147851

Millar, David Stuart, Lopez, A., White, D., Abraham, G., Laursen, B., Holding, S., Reverter, J. C., Reynaud, J., Martinowitz, U., Hayes, J. P. L. A., Kakkar, V. V. and Cooper, David Neil 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

Grundy, Catherine B., Schulman, Sam, Tengborn, Lillian, Kakkar, Vijay V. and Cooper, David Neil 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

White, Deborah, Abraham, Ginger, Carter, Chris, Kakkar, Vijay V. and Cooper, David Neil 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, Michael, Reiss, Jochen and Cooper, David Neil 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, Catherine B., Chisholm, Morag, Kakkar, VijayV. and Cooper, David Neil 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, Lutz-Peter, Grundy, Catherine B., Thomas, Frank, Millar, David Stuart, Green, Peter J., Slomski, Ryszard, Reiss, Jochen, Kakkar, Vijay V. and Cooper, David Neil 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

Schmidtke, Jorg and Cooper, David Neil 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, Catherine B., Holding, Steven, Millar, David Stuart, Kakkar, Vijay V. and Cooper, David Neil 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, David Neil 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, David Neil and Schmidtke, Jörg 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, Marianne, Cooper, David Neil, Millart, David S., Kakkar, Vijay V. and Scheibel, Elma 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, David Stuart, Cooper, David Neil, Kakkar, VijayV., Schwartz, Marianne and Scheibel, Elma 1992. Prenatal exclusion of severe factor VII deficiency by DNA sequencing. The Lancet 339 (8805) , p. 1359. 10.1016/0140-6736(92)92005-Z

Cooper, David Neil 1992. Regulatory mutations and human genetic disease. Annals of Medicine 24 (6) , pp. 427-437. 10.3109/07853899209166991

Plieth, Juliane, Rininsland, Frauke, Schlösser, Manfred, Cooper, David Neil and Reiss, Jochen 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., Thomas, F., Millar, David Stuart, Krawczak, M., Melissari, E., Lindo, V., Moffat, E., Kakkar, V. V. and Cooper, David Neil 1991. Recurrent deletion in the human antithrombin III gene. Blood 78 (4) , pp. 1027-1032.

Hancock, J. F., Wieland, K., Pugh, R. E., Martinowitz, U., Schulman, S., Kakkar, V. V., Kernoff, P. B. and Cooper, David Neil 1991. A molecular genetic study of factor XI deficiency. Blood 77 (9) , pp. 1942-1948.

Millar, David Stuart, Green, P. J., Zoll, B., Kakkar, V. V. and Cooper, David Neil 1991. Carrier detection in haemophilia A by direct analysis of factor VIII gene lesions. Human Genetics 87 (1) , pp. 99-100.

Cooper, David Neil 1991. The molecular genetic analysis of familial venous thrombosis. Blood Reviews 5 (1) , pp. 55-70. 10.1016/0268-960X(91)90009-2

Cooper, David Neil, Berg, L. P., Miller, D. S., Grundy, C. B., Wieland, K., Pattison, J. K., Tuddenham, E. G. D., Kakkar, E. D. and Cooper, D. N. 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, David Neil 1991. The molecular genetics of platelet membrane proteins and their inherited disorders. Platelets 2 (2) , pp. 59-67. 10.3109/09537109109113690

Schmidtke, Jorg and Cooper, David Neil 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

Tuddenham, E. G. D., Cooper, David Neil, Gitschier, J., Higuchi, M., Hoyer, L. W., Yoshioka, A., Peake, I. R., Schwaab, R., Olek, K., Kazazian, H. H., Lavergne, J. M., Giannelli, F. and Antonarakis, S. E. 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, David Neil 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, David Stuart, Zoll, Barbara, Martinowitz, Uri, Kakkar, Vijay V. and Cooper, David Neil 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, Jochen, Cooper, David Neil, Bal, Jerzy, Slomski, Ryszard, Cutting, Garry R. and Krawczak, Michael 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, David Neil and Krawczak, Michael 1991. Mechanisms of insertional mutagenesis in human genes causing genetic disease. Human Genetics 87 (4) , pp. 409-415. 10.1007/BF00197158

Krawczak, Michael and Cooper, David Neil 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, Frank, Cooper, David Neil, Grzeschik, K. -H. and Schmidtke, Jorg 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, David Neil 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, David Neil 1991. Late-onset homozygous protein C deficiency. The Lancet 338 (8766) , pp. 575-576. 10.1016/0140-6736(91)91144-J

Williamson, R., Bowcock, A., Kidd, K., Pearson, P., Schmidtke, J., Ceverha, P., Chipperfield, M., Cooper, David Neil, Coutelle, C., Hewitt, J., Klinger, K., Langley, K., Beckmann, J., Tolley, M., Maidak, B., Hewett, D., Linch, C. and Maslen, G. 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, Kerstin, Millar, David Stuart, Grundy, Catherine B., Mibashan, Reuben S., Kakkar, Vijay V. and Cooper, David Neil 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, David Neil 1990. Characterization of pathological dystrophin transcripts from the lymphocytes of a muscular-dystrophy carrier. Molecular biology & medicine 7 (6) , pp. 519-523.

Jedlicka, P., Greer, S., Millar, David Stuart, Grundy, C. B., Jenkins, E., Mitchell, M., Mibashan, R. S., Kakkar, V. V. and Cooper, David Neil 1990. Improved carrier detection of haemophilia A using novel RFLPs at the DXS115 (767) locus. Human Genetics 85 (3) , pp. 315-318.

Williamson, Rebecca, Bowcock, A., Kidd, K., Pearson, P., Schmidtke, J., Chan, H. S., Chipperfield, M., Cooper, David Neil, Hewitt, J., Lewitter, F., Maidak, B., Quitt, M., Ricciuti, F., Track, R., Tolley, M., Trumper, S. and Walley, A. 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., Steinbrecher, R. A., Wieland, K., Grundy, C. B., Martinowitz, U., Krawczak, M., Zoll, B., Whitmore, D., Stephenson, J., Mibashan, R. S., Kakkar, V. V. and Cooper, David Neil 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, Lutz-Peter, Wieland, Kerstin, Millar, DavidS., Schlösser, Manfred, Wagner, Michael, Kakkar, VijayV., Reiss, Jochen and Cooper, David Neil 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.-P., Kakkar, V.V., Cooper, David Neil 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, Jochen and Cooper, David Neil 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, David Neil and Krawczak, Michael 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, David Neil 1990. A comprehensive list of cloned human DNA sequences. Nucleic Acids Research 18 (suppl) , pp. 2413-2547. 10.1093/nar/18.suppl.2413

Turner, Jennifer, Grundy, Catherine B., Kakkar, Vijay V. and Cooper, David Neil 1990. Mspl RFLP in the human heparin cofactor II (HCF2) gene. Nucleic Acids Research 18 (6) , p. 1664. 10.1093/nar/18.6.1664-a

Hentemann, M., Reiss, J., Wagner, M. and Cooper, David Neil 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

Reiss, Jochen, Krawczak, Michael, Schloesser, Manfred, Wagner, Michael and Cooper, David Neil 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

Reis, A., Hecht, W., Gröger, R., Böhm, I., Cooper, David Neil, Lindenmaier, W., Mayer, H. and Schmidtke, J. 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., Millar, David Stuart, McVey, J. H., Grundy, C. B., Wieland, K., Mibashan, R., Martinowitz, U., Tan-Un, K., Vidaud, M., Goossens, M., Sampietro, M., Mannucci, P. M., Krawczak, M., Reiss, J., Zoll, B., Whitmore, D., Bowcock, S., Wensley, R., Ajani, A., Mitchell, V., Rizza, C., Maia, R., Winter, P., Mayne, E. E., Schwartz, M., Green, P. J., Kakkar, V. V., Tuddenham, E. G. D. and Cooper, David Neil 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.

Beaudet, A. L., Scriver, C. R., Sly, W. S., Valle, D., Cooper, David Neil, McKusick, V. A. and Schmidtke, J. 1989. Genetics and biochemistry of variant human phenotypes. In: Scriver, C. R., Beaudet, A. L., Sly, W. S. and Valle, D. eds. The metabolic basis of inherited disease (6th ed.), New York: McGraw-Hill, pp. 3-168.

Schmidtke, J. and Cooper, David Neil 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. Published in: den Boer, N. C., van der Heiden, C., Leijnse, B. and Souverijn, J. H. M. 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, David Neil 1989. A comprehensive list of cloned human DNA sequence. Nucleic Acids Research 17 (suppl) , r173-r281. 10.1093/nar/17.suppl.r173

Grundy, Catherine, Chitolie, Andrew, Talbot, Sheila, Bevan, David, Kakkar, Vijay and Cooper, David Neil 1989. Protein C London 1: recurrent mutation at Arg 169 (CGG—TGG)) in the protein C gene causing thrombosis. Nucleic Acids Research 17 (24) , p. 10513. 10.1093/nar/17.24.10513

Cooper, David Neil and Schmidtke, J. 1989. Diagnosis of genetic disease using recombinant DNA. Second edition. Human Genetics 83 (4) , pp. 307-334. 10.1007/BF00291376

Cooper, David Neil and Krawczak, Michael 1989. Cytosine methylation and the fate of CpG dinucleotides in vertebrate genomes. Human Genetics 83 (2) , pp. 181-188. 10.1007/BF00286715

Cooper, David Neil 1989. Genetic risk in medicine today. The Geneva Papers On Risk And Insurance 2 (133) , pp. 9-17.

Cooper, David Neil and Mibashan, 1988. Carrier testing in the haemophilias. Haemophilia Society Bulletin , pp. 4-6.

Schmidtke, J. and Cooper, David Neil 1988. A comprehensive list of cloned human DNA sequences. Nucleic Acids Research 16 (suppl) , r403-r480. 10.1093/nar/16.suppl.r403

Cooper, David Neil and Youssoufian, Hagop 1988. The CpG dinucleotide and human genetic disease. Human Genetics 78 (2) , pp. 151-155. 10.1007/BF00278187

Cooper, David Neil and Clayton, John F. 1988. DNA polymorphism and the study of disease associations. Human Genetics 78 (4) , pp. 299-312. 10.1007/BF00291724

Cooper, David Neil and Hall, Christine 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, David Neil, Niemann, S. C., Gosden, J. R., Mitchell, A. R., Goate, A. M., Rajendran, G. S., Miller, D. A., Lim, L. and Schmidtke, J. 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, David 1987. Gene expression in brain. FEBS Letters , pp. 201-202.

Cooper, David Neil 1987. Can you buy insurance for your genes? New Scientist 115 (1569) , p. 51.

Cooper, David Neil, 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. Published in: 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, David Neil 1987. A comprehensive list of cloned human DNA sequences. Nucleic Acids Research 15 (suppl) , r1-r51. 10.1093/nar/15.suppl.r1

Goate, Alison M., Cooper, David Neil, Hall, Christine, Leung, Thomas K. C., Solomon, Ellen and Lim, Louis 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, David Neil and Schmidtke, J. 1987. Diagnosis of genetic disease using recombinant DNA. Supplement. Human Genetics 77 (1) , pp. 66-75. 10.1007/BF00284717

Cooper, David Neil and Schmidtke, J. 1987. Human gene cloning and disease analysis. The Lancet 329 (8527) , p. 273. 10.1016/S0140-6736(87)90090-0

Cooper, David Neil, Jay, Marcelle, Bhattacharya, Shomi and Jay, Barrie 1987. Molecular genetic approaches to the analysis of human ophthalmic disease. Eye 1 (6) , pp. 699-721. 10.1038/eye.1987.114

Gerber-Huber, Susan, Nardelli, Denise, Haefliger, Jacques-Antoine, Cooper, David Neil, Givel, Françoise, Germond, Jacques-Edouard, Engel, Jiirgen, Green, N. Michael and Wahli, Walter 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, David Neil, Gerber-Huber, Susan, Nardelli, Denise, Schubiger, Jean-Luc and Wahli, Walter 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, David Neil, 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, David Neil 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, David Neil 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. Published in: 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, David and Schmidtke, J. 1986. Diagnosis of genetic disease using recombinant DNA. Human Genetics 73 (1) , pp. 1-11. 10.1007/BF00292654

Schmidtke, Jorg, Krawczak, Michael and Cooper, David Neil 1986. Human gene cloning: the storm before the lull? Nature 322 (6075) , p. 119. 10.1038/322119a0

Willichowski, E., Cooper, David Neil and Schmidtke, J. 1986. Genetisch bedingte Erkrankungen: Analyse und Diagnose mittles rekombinanter DNA-Technologie. Diagnose und Labor 36 (4) , pp. 141-157.

Cooper, David Neil 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, David Neil 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, David Neil 1986. The application of recombinant DNA methodology to the diagnosis of inherited disease. Contributions to Gynecology and Obstetrics 15 , pp. 90-103.

Cooper, David Neil, Smith, Barbara A., Cooke, Howard J., Niemann, Susanne and Schmidtke, Jorg 1985. An estimate of unique DNA sequence heterozygosity in the human genome. Human Genetics 69 (3) , pp. 201-205. 10.1007/BF00293024

Cooper, David Neil and Gerber-Huber, Susan 1985. DNA methylation and CpG suppression. Cell Differentiation 17 (3) , pp. 199-205. 10.1016/0045-6039(85)90488-9

Zoll, B., Arnemann, J., Krawczak, M., Cooper, David Neil, Pescia, G., Wahli, W., Steinbach, P. and Schmidtke, J. 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, David Neil 1985. Murine retroviral vectors and Human gene therapy. Science 228 (4700) , p. 650. 10.1126/science.228.4700.650-a

Schmidtke, J. and Cooper, David Neil 1984. A list of cloned human DNA sequences-supplement. Human Genetics 67 (1) , pp. 111-114. 10.1007/BF00270569

Schmidtke, Jorg, Pape, Bettina, Krengel, Ute, Langenbeck, Ulrich, Cooper, David Neil, Breyel, Erich and Mayer, Hubert 1984. Restriction fragment length polymorphisms at the human parathyroid hormone gene locus. Human Genetics 67 (4) , pp. 428-431. 10.1007/BF00291404

Cooper, David Neil and Schmidtke, Jorg 1984. DNA restriction fragment length polymorphisms and heterozygosity in the human genome. Human Genetics 66 (1) , pp. 1-16. 10.1007/BF00275182

Schmidtke, J. and Cooper, David Neil 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, David Neil, 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, David Neil 1983. Eukaryotic DNA methylation. Human Genetics 64 (4) , pp. 315-333. 10.1007/BF00292363

Errington, Laurence H., Cooper, David Neil and Clayton, Ruth 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, David Neil, Taggart, Mary H. and Bird, Adrian P. 1983. Unmethlated domains in vertebrate DNA. Nucleic Acids Research 11 (3) , pp. 647-658. 10.1093/nar/11.3.647

Cooper, David Neil, 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