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Number of items: 648.

Duffy, Áine, Chen, Robert, Stein, David, Park, Joshua K., Mort, Matthew

, Verbanck, Marie, Schlessinger, Avner, Itan, Yuval, Cooper, David N.

, Jordan, Daniel M., Rocheleau, Ghislain and Do, Ron 2025. Development of a genetic priority score to predict drug side effects using human genetic evidence. Nature Communications 16 (1) , 8713. 10.1038/s41467-025-63762-y

Zhang, Bao-Lin, Chen, Yongxuan, Zhang, Yali, Qiao, Yicheng, Wu, Yang, Zhang, Yi, Lu, Yizheng, You, Xinran, Li, Yanling, Huang, Hong-Di, Wang, Qiong, Li, Yijiang, Wang, Yun, Xiao, Wenxian, Duan, Hexian, Qiu, Ming-Hao, Chen, Nan-Hui, Yu, Xiaomei, Yang, Min-Min, Lv, Longbao, Cooper, David N.

, Zheng, Ping, Yao, Yong-Gang, Liu, Ning, Wang, Jian-Hong and Wu, Dong-Dong 2025. Forward and reverse genomic screens enhance the understanding of phenotypic variation in a large Chinese rhesus macaque cohort. Nature Communications 16 (1) , 8703. 10.1038/s41467-025-63747-x

Wang, Yuan-Chen, Masson, Emmanuelle, Wang, Qi-Wen, Génin, Emmanuelle, Le Gac, Gérald, Fichou, Yann, Cooper, David N.

, Liao, Zhuan, Férec, Claude, Zou, Wen-Bin and Chen, Jian-Min 2025. SPINK1-related chronic pancreatitis: A model that encapsulates the spectrum of variant effects, genetic complexity, and classificatory challenges. American Journal of Human Genetics 112 , pp. 2043-2066. 10.1016/j.ajhg.2025.07.013
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Kehrer-Sawatzki, Hildegard and Cooper, David N.

2025. SMARCB1 -related schwannomatosis and other SMARCB1 -associated phenotypes: clinical spectrum and molecular pathogenesis. Familial Cancer 24 (3) , 64. 10.1007/s10689-025-00486-4

Zhang, Huasong, Fan, Cong, Li, Ling, Liu, Feiyi, Li, Shaoying, Ma, Linyun, Yang, Yuanhao, Cooper, David N.

, Yang, Yuedong, Hu, Ronggui and Zhao, Huiying 2025. Repurposing the memory-promoting meclofenoxate hydrochloride as a treatment for Parkinson’s disease through integrative multi-omics analysis. npj Parkinson's Disease 11 (1) , 167. 10.1038/s41531-025-01027-7

Wang, Yun-Mei, Wang, Wen-Chao, Pan, Yongzhang, Zeng, Lin, Wu, Jing, Wang, Zheng-Bo, Zhuang, Xiao-Lin, Li, Ming-Li, Cooper, David N.

, Wang, Sheng, Shao, Yong, Wang, Li-Min, Fan, Ying-Yin, He, Yonghan, Hu, Xin-Tian and Wu, Dong-Dong 2025. Regional and aging-specific cellular architecture of non-human primate brains. Genome Medicine 17 (1) , 41. 10.1186/s13073-025-01469-x

Chen, Yong-Xuan, Zhang, Xiu-Ping, Cooper, David N.

, Wu, Dong-Dong and Bao, Wan-Dong 2025. A combination of transcriptomics and epigenomics identifies genes and regulatory elements involved in embryonic tail development in the mouse. BMC Biology 23 (1) , 88. 10.1186/s12915-025-02192-0

Rastogi, Ruchir, Chung, Ryan, Li, Sindy, Li, Chang, Lee, Kyoungyeul, Woo, Junwoo, Kim, Dong-Wook, Keum, Changwon, Babbi, Giulia, Martelli, Pier Luigi, Savojardo, Castrense, Casadio, Rita, Chennen, Kirsley, Weber, Thomas, Poch, Olivier, Ancien, François, Cia, Gabriel, Pucci, Fabrizio, Raimondi, Daniele, Vranken, Wim, Rooman, Marianne, Marquet, Céline, Olenyi, Tobias, Rost, Burkhard, Andreoletti, Gaia, Kamandula, Akash, Peng, Yisu, Bakolitsa, Constantina, Mort, Matthew

, Cooper, David N.

, Bergquist, Timothy, Pejaver, Vikas, Liu, Xiaoming, Radivojac, Predrag, Brenner, Steven E. and Ioannidis, Nilah M. 2025. Critical assessment of missense variant effect predictors on disease-relevant variant data. Human Genetics 10.1007/s00439-025-02732-2

Kars, Meltem Ece, Stein, David, Stenson, Peter D., Cooper, David N.

, Chung, Wendy K., Gruber, Peter J., Seidman, Christine E., Shen, Yufeng, Tristani-Firouzi, Martin, Gelb, Bruce D. and Itan, Yuval 2025. Deciphering the digenic architecture of congenital heart disease using trio exome sequencing data. American Journal of Human Genetics 112 (3) , pp. 583-598. 10.1016/j.ajhg.2025.01.024

Lopes-Marques, Mónica, Peixoto, M João, Cooper, David N.

, Prata, M João, Azevedo, Luísa and Castro, L.Filipe C. 2024. Polymorphic pseudogenes in the human genome - a comprehensive assessment. Human Genetics 143 , pp. 1465-1479. 10.1007/s00439-024-02715-9

Qi, Mengling, Zhang, Haoyang, Xiu, Xuehao, He, Dan, Cooper, David N.

, Yang, Yuanhao and Zhao, Huiying 2024. Genetic evidence for T-wave area from 12-lead electrocardiograms to monitor cardiovascular diseases in patients taking diabetes medications. Human Genetics 143 , pp. 1095-1108. 10.1007/s00439-024-02661-6

Chen, Robert, Duffy, Áine, Petrazzini, Ben O., Vy, Ha My, Stein, David, Mort, Matthew

, Park, Joshua K., Schlessinger, Avner, Itan, Yuval, Cooper, David N.

, Jordan, Daniel M., Rocheleau, Ghislain and Do, Ron 2024. Expanding drug targets for 112 chronic diseases using a machine learning-assisted genetic priority score. Nature Communications 15 (1) , 8891. 10.1038/s41467-024-53333-y

Masson, Emmanuelle, Maestri, Sandrine, Bordeau, Valérie, Cooper, David N.

, Férec, Claude and Chen, Jian-Min 2024. Alu insertion-mediated dsRNA structure formation with pre-existing Alu elements as a disease-causing mechanism. American Journal of Human Genetics 111 (10) , pp. 2176-2189. 10.1016/j.ajhg.2024.08.016

He, Dan, Li, Ling, Zhang, Huasong, Liu, Feiyi, Li, Shaoying, Xiu, Xuehao, Fan, Cong, Qi, Mengling, Meng, Meng, Ye, Junping, Mort, Matthew

, Stenson, Peter D., Cooper, David N.

and Zhao, Huiying 2024. Accurate identification of genes associated with brain disorders by integrating heterogeneous genomic data into a Bayesian framework. EBioMedicine 107 , 105286. 10.1016/j.ebiom.2024.105286

Wang, Min‐Jun, Wang, Yuan‐Chen, Masson, Emmanuelle, Wang, Ya‐Hui, Yu, Dong, Qian, Yang‐Yang, Tang, Xin‐Ying, Deng, Shun‐Jiang, Hu, Liang‐Hao, Wang, Lei, Wang, Li‐Juan, Rebours, Vinciane, Cooper, David N.

, Férec, Claude, Li, Zhao‐Shen, Chen, Jian‐Min, Zou, Wen‐Bin and Liao, Zhuan 2024. SEC16A variants predispose to chronic pancreatitis by impairing ER‐to‐Golgi Transport and inducing ER stress. Advanced Science 11 (38) , 2402550. 10.1002/advs.202402550

Kars, Meltem Ece, Wu, Yiming, Stenson, Peter D., Cooper, David N.

, Burisch, Johan, Peter, Inga and Itan, Yuval 2024. The landscape of rare genetic variation associated with inflammatory bowel disease and Parkinson’s disease comorbidity. Genome Medicine 16 (1) , 66. 10.1186/s13073-024-01335-2

Hu, Jiang, Wang, Zhuo, Sun, Zongyi, Hu, Benxia, Ayoola, Adeola Oluwakemi, Liang, Fan, Li, Jingjing, Sandoval, José R., Cooper, David N.

, Ye, Kai, Ruan, Jue, Xiao, Chuan-Le, Wang, Depeng, Wu, Dong-Dong and Wang, Sheng 2024. NextDenovo: an efficient error correction and accurate assembly tool for noisy long reads. Genome Biology 25 (1) , 107. 10.1186/s13059-024-03252-4

Zhuang, Xiao-Lin, Shao, Yong, Chen, Chun-Yan, Zhou, Long, Yao, Yong-Gang, Cooper, David N.

, Zhang, Guo-Jie, Wang, Wen and Wu, Dong-Dong 2024. Divergent evolutionary rates of primate brain regions as revealed by genomics and transcriptomics. Genome Biology and Evolution 16 (2) , evae023. 10.1093/gbe/evae023

Lopes-Marques, Mónica, Mort, Matthew, Carneiro, João, Azevedo, António, Amaro, Andreia P., Cooper, David N.

and Azevedo, Luísa 2024. Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease. Human Genomics 18 (1) , 20. 10.1186/s40246-024-00587-8

Hu, Benxia, Zhuang, Xiao-Lin, Zhou, Long, Zhang, Guojie, Cooper, David N.

and Wu, Dong-Dong 2024. Deciphering the role of rapidly evolving conserved elements in primate brain development and exploring their potential involvement in Alzheimer's Disease. Molecular Biology and Evolution 41 (1) , msae001. 10.1093/molbev/msae001

Duffy, Áine, Petrazzini, Ben Omega, Stein, David, Park, Joshua K., Forrest, Iain S., Gibson, Kyle, Vy, Ha My, Chen, Robert, Márquez-Luna, Carla, Mort, Matthew, Verbanck, Marie, Schlessinger, Avner, Itan, Yuval, Cooper, David N.

, Rocheleau, Ghislain, Jordan, Daniel M. and Do, Ron 2024. Development of a human genetics-guided priority score for 19,365 genes and 399 drug indications. Nature Genetics 56 (1) , pp. 51-59. 10.1038/s41588-023-01609-2

Shiferaw, Henoke K., Hong, Celine S., Cooper, David N.

, Johnston, Jennifer J. and Biesecker, Leslie G. 2023. Genome-wide identification of dominant polyadenylation hexamers for use in variant classification. Human Molecular Genetics 32 (23) , pp. 3211-3224. 10.1093/hmg/ddad136

Stein, David, Kars, Meltem Ece, Wu, Yiming, Bayrak, Çiğdem Sevim, Stenson, Peter D., Cooper, David N.

, Schlessinger, Avner and Itan, Yuval 2023. Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set. Genome Medicine 15 (1) , 103. 10.1186/s13073-023-01261-9

Zhang, Peng, Chaldebas, Matthieu, Ogishi, Masato, Al Qureshah, Fahd, Ponsin, Khoren, Feng, Yi, Rinchai, Darawan, Milisavljevic, Baptiste, Han, Ji Eun, Moncada-Vélez, Marcela, Keles, Sevgi, Schröder, Bernd, Stenson, Peter D., Cooper, David N.

, Cobat, Aurélie, Boisson, Bertrand, Zhang, Qian, Boisson-Dupuis, Stéphanie, Abel, Laurent and Casanova, Jean-Laurent 2023. Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites. Proceedings of the National Academy of Sciences of the United States of America 120 (46) , e2314225120. 10.1073/pnas.2314225120

Lin, Siying, Zhang, Haoyang, Qi, Mengling, Cooper, David N.

, Yang, Yuedong, Yang, Yuanhao and Zhao, Huiying 2023. Inferring the genetic relationship between brain imaging-derived phenotypes and risk of complex diseases by Mendelian randomization and genome-wide colocalization. NeuroImage 279 , 120325. 10.1016/j.neuroimage.2023.120325

Masson, Emmanuelle, Zou, Wen-Bin, Pu, Na, Rebours, Vinciane, Génin, Emmanuelle, Wu, Hao, Lin, Jin-Huan, Wang, Yuan-Chen, Li, Zhao-Shen, Cooper, David N.

, Férec, Claude, Liao, Zhuan and Chen, Jian-Min 2023. Classification of PRSS1 variants responsible for chronic pancreatitis: An expert perspective from the Franco-Chinese GREPAN Study Group. Pancreatology 23 (5) , pp. 491-506. 10.1016/j.pan.2023.04.004

Masson, Emmanuelle, Berthet, Stéphanie, Le Gac, Gerald, Le Rhun, Marc, Ka, Chandran, Autret, Sandrine, Gourlaouen, Isabelle, Cooper, David N.

, Férec, Claude, Rebours, Vinciane and Chen, Jian-Min 2023. Identification of protease-sensitive but not misfolding PNLIP variants in familial and hereditary pancreatitis. Pancreatology 23 (5) , pp. 507-511. 10.1016/j.pan.2023.05.011

Zhuang, Xiao-Lin, Zhang, Jin-Jin, Shao, Yong, Ye, Yaxin, Chen, Chun-Yan, Zhou, Long, Wang, Zheng-bo, Luo, Xin, Su, Bing, Yao, Yong-Gang, Cooper, David N.

, Hu, Ben-Xia, Wang, Lu, Qi, Xiao-Guang, Lin, Jiangwei, Zhang, Guo-Jie, Wang, Wen, Sheng, Nengyin and Wu, Dong-Dong 2023. Integrative omics reveals rapidly evolving regulatory sequences driving primate brain evolution. Molecular Biology and Evolution 40 (8) , msad173. 10.1093/molbev/msad173

Zhang, Guofu, Hu, Yuepeng, Yang, Qi, Pu, Na, Li, Gang, Zhang, Jingzhu, Tong, Zhihui, Masson, Emmanuelle, Cooper, David N.

, Chen, Jian-Min and Li, Weiqin 2023. Frameshift coding sequence variants in the LPL gene: identification of two novel events and exploration of the genotype–phenotype relationship for variants reported to date. Lipids in Health and Disease 22 (1) , 128. 10.1186/s12944-023-01898-w

Hu, Yuepeng, Zhang, Guofu, Yang, Qi, Pu, Na, Li, Kaiwei, Li, Baiqiang, Cooper, David N.

, Tong, Zhihui, Li, Weiqin and Chen, Jian-Min 2023. The East Asian-specific LPL p.Ala288Thr (c.862G > A) missense variant exerts a mild effect on protein function. Lipids in Health and Disease 22 , 119. 10.1186/s12944-023-01875-3

Shao, Yong, Zhou, Long, Li, Fang, Zhao, Lan, Zhang, Bao-Lin, Shao, Feng, Chen, Jia-Wei, Chen, Chun-Yan, Bi, Xupeng, Zhuang, Xiao-Lin, Zhu, Hong-Liang, Hu, Jiang, Sun, Zongyi, Li, Xin, Wang, Depeng, Rivas-González, Iker, Wang, Sheng, Wang, Yun-Mei, Chen, Wu, Li, Gang, Lu, Hui-Meng, Liu, Yang, Kuderna, Lukas F. K., Farh, Kyle Kai-How, Fan, Peng-Fei, Yu, Li, Li, Ming, Liu, Zhi-Jin, Tiley, George P., Yoder, Anne D., Roos, Christian, Hayakawa, Takashi, Marques-Bonet, Tomas, Rogers, Jeffrey, Stenson, Peter D., Cooper, David N.

, Schierup, Mikkel Heide, Yao, Yong-Gang, Zhang, Ya-Ping, Wang, Wen, Qi, Xiao-Guang, Zhang, Guojie and Wu, Dong-Dong 2023. Phylogenomic analyses provide insights into primate evolution. Science 380 (6648) , pp. 913-924. 10.1126/science.abn6919

Zhang, Bao-Lin, Chen, Wu, Wang, Zefu, Pang, Wei, Luo, Meng-Ting, Wang, Sheng, Shao, Yong, He, Wen-Qiang, Deng, Yuan, Zhou, Long, Chen, Jiawei, Yang, Min-Min, Wu, Yajiang, Wang, Lu, Fernández-Bellon, Hugo, Molloy, Sandra, Meunier, Hélène, Wanert, Fanélie, Kuderna, Lukas, Marques-Bonet, Tomas, Roos, Christian, Qi, Xiao-Guang, Li, Ming, Liu, Zhijin, Schierup, Mikkel Heide, Cooper, David N.

, Liu, Jianquan, Zheng, Yong-Tang, Zhang, Guojie and Wu, Dong-Dong 2023. Comparative genomics reveals the hybrid origin of a macaque group. Science Advances 9 (22) , eadd3580. 10.1126/sciadv.add3580

Bi, Xupeng, Zhou, Long, Zhang, Jin-Jin, Feng, Shaohong, Hu, Mei, Cooper, David N.

, Lin, Jiangwei, Li, Jiali, Wu, Dong-Dong and Zhang, Guojie 2023. Lineage-specific accelerated sequences underlying primate evolution. Science Advances 9 (22) 10.1126/sciadv.adc9507

Wu, Yiming, Gettler, Kyle, Kars, Meltem Ece, Giri, Mamta, Li, Dalin, Bayrak, Cigdem Sevim, Zhang, Peng, Jain, Aayushee, Maffucci, Patrick, Sabic, Ksenija, Van Vleck, Tielman, Nadkarni, Girish, Denson, Lee A., Ostrer, Harry, Levine, Adam P., Schiff, Elena R., Segal, Anthony W., Kugathasan, Subra, Stenson, Peter D., Cooper, David N.

, Philip Schumm, L., Snapper, Scott, Daly, Mark J., Haritunians, Talin, Duerr, Richard H., Silverberg, Mark S., Rioux, John D., Brant, Steven R., McGovern, Dermot P. B., Cho, Judy H. and Itan, Yuval 2023. Identifying high-impact variants and genes in exomes of Ashkenazi Jewish inflammatory bowel disease patients. Nature Communications 14 (1) , 2256. 10.1038/s41467-023-37849-3

Wu, Yiming, Bayrak, Cigdem Sevim, Dong, Bosi, He, Shixu, Stenson, Peter D., Cooper, David N.

, Itan, Yuval and Chen, Lei 2023. Identifying shared genetic factors underlying epilepsy and congenital heart disease in Europeans. Human Genetics 142 , pp. 275-288. 10.1007/s00439-022-02502-4

Fan, Cong, Chen, Ken, Wang, Yukai, Ball, Edward V., Stenson, Peter D., Mort, Matthew, Bacolla, Albino, Kehrer-Sawatzki, Hildegard, Tainer, John A., Cooper, David N.

and Zhao, Huiying 2023. Profiling human pathogenic repeat expansion regions by synergistic and multi-level impacts on molecular connections. Human Genetics 142 , pp. 245-274. 10.1007/s00439-022-02500-6

Masson, Emmanuelle, Ewers, Maren, Paliwal, Sumit, Kume, Kiyoshi, Scotet, Virginie, Cooper, David N.

, Rebours, Vinciane, Buscail, Louis, Rouault, Karen, Amandine, Abrantes, Lina, Aguilera Munoz, Jérémie, Albouys, Laurent, Alric, Amiot Xavier, Isabelle, Archambeaud, Solène, Audiau, Laetitia, Bastide, Julien, Baudon, Guy, Bellaiche, Serge, Bellon, Valérie, Bertrand, Karine, Bideau, Kareen, Billiemaz, Claire, Billioud, Sabine, Bonnefoy, Corinne, Borderon, Barbara, Bournet, Estelle, Breton, Mathias, Brugel, Louis, Buscail, Guillaume, Cadiot, Marine, Camus, Marine, Carpentier-Pourquier, Patrick, Chamouard, Ulriikka, Chaput, Jian-Min, Chen, Franck, Cholet, Marius, Ciocan Dragos, Christine, Clavel, Benoit, Coffin, Laura, Coimet-Berger, Simona, Cosconea, Isabelle, Creveaux, Adrian, Culetto, Oussama, Daboussi, Louis, De Mestier, Thibault, Degand, Christelle, D'engremont, Bernard, Denis, Solène, Dermine, Romain, Desgrippes, D'Aubigny Augustin, Drouet, Raphaël, Enaud, Alexandre, Fabre, Claude, Ferec, Dany, Gargot, Eve, Gelsi, Elena, Gentilcore, Rodica, Gincul, Emmanuelle, Ginglinger-Favre, Marc, Giovannini, Cécile, Gomercic, Hannah, Gondran, Thomas, Grainville, Philippe, Grandval, Denis, Grasset, Stéphane, Grimaldi, Sylvie, Grimbert, Hervé, Hagege, Sophie, Heissat, Olivia, Hentic, Anne, Herber-Mayne, Marc, Hervouet, Solene, Hoibian, Jérémie, Jacques, Bénédicte, Jais, Mehdi, Kaassis, Stéphane, Koch, Elodie, Lacaze, Joël, Lacroute, Thierry, Lamireau, Lucie, Laurent, Xavier, Le Guillou, Marc, Le Rhun, Sarah, Leblanc, Philippe, Levy, Astrid, Lievre, Diane, Lorenzo, Frédérique, Maire, Kévin, Marcel, Emmanuelle, Masson, Jacques, Mauillon, Stéphanie, Morgant, Driffa, Moussata, Nelly, Muller, Sophie, Nambot, Bertrand, Napoleon, Anne, Olivier, Maël, Pagenault, Anne-laure, Pelletier, Olivier, Pennec, Fabien, Pinard, Mathieu, Pioche, Bénédicte, Prost, Lucille, Queneherve, Vinciane, Rebours, Noemi, Reboux, Samia, Rekik, Ghassan, Riachi, Barbara, Rohmer, Bertrand, Roquelaure, Isabelle, Rosa Hezode, Florian, Rostain, Jean-Christophe, Saurin, Laure, Servais, Roxana, Stan-Iuga, Clément, Subtil, Jérémy, Tanneche, Charles, Texier, Lucie, Thomassin, David, Tougeron, Lucine, Vuitton, Timothée, Wallenhorst, Marc, Wangerme, Hélène, Zanaldi, Frank, Zerbib, Bhaskar, Seema, Kikuta, Kazuhiro, Rao, G Venkat, Hamada, Shin, Reddy, D Nageshwar, Masamune, Atsushi, Chandak, Giriraj Ratan, Witt, Heiko, Férec, Claude and Chen, Jian-Min 2023. The PRSS3P2 and TRY7 deletion copy number variant modifies risk for chronic pancreatitis. Pancreatology 23 (1) , pp. 48-56. 10.1016/j.pan.2022.11.013

Li, Yan, Wang, Sheng, Zhang, Zhe, Luo, Jing, Lin, Guo Liang, Deng, Wei-Dong, Guo, Zhifan, Han, Feng Ming, Wang, Li-Li, Li, Jie, Wu, Shi-Fang, Liu, He-Qun, He, Sheng, Murphy, Robert W, Zhang, Zi-Jie, Cooper, David N.

, Wu, Dong-Dong, Zhang, Ya-Ping and Wei, Fuwen 2023. Large-scale chromosomal changes lead to genome-level expression alterations, environmental adaptation, and speciation in the Gayal (Bos frontalis). Molecular Biology and Evolution 40 (1) , msad006. 10.1093/molbev/msad006

Wang, Yuan-Chen, Zou, Wen-Bin, Tang, Da-Hai, Wang, Lei, Hu, Liang-Hao, Qian, Yang-Yang, Cooper, David N.

, Férec, Claude, Li, Zhao-Shen, Chen, Jian-Min and Liao, Zhuan 2023. High clinical and genetic similarity between chronic pancreatitis associated with light-to-moderate alcohol consumption and classical alcoholic chronic pancreatitis. Gastro Hep Advances 2 (2) , pp. 186-195. 10.1016/j.gastha.2022.09.009

Zhang, Peng, Philippot, Quentin, Ren, Weicheng, Lei, Wei-Te, Li, Juan, Stenson, Peter D., Palacín, Pere Soler, Colobran, Roger, Boisson, Bertrand, Zhang, Shen-Ying, Puel, Anne, Pan-Hammarström, Qiang, Zhang, Qian, Cooper, David N.

, Abel, Laurent and Casanova, Jean-Laurent 2022. Genome-wide detection of human variants that disrupt intronic branchpoints. Proceedings of the National Academy of Sciences 119 (44) , e2211194119. 10.1073/pnas.2211194119

Li, Ming-Li, Wang, Sheng, Xu, Penghui, Tian, Hang-Yu, Bai, Mixue, Zhang, Ya-Ping, Shao, Yong, Xiong, Zi-Jun, Qi, Xiao-Guang, Cooper, David N.

, Zhang, Guojie, Zhu, He Helen and Wu, Dong-Dong 2022. Functional genomics analysis reveals the evolutionary adaptation and demographic history of pygmy lorises. Proceedings of the National Academy of Sciences 119 (40) , e2123030119. 10.1073/pnas.2123030119

Zou, Wen-Bin, Cooper, David N.

, Masson, Emmanuelle, Pu, Na, Liao, Zhuan, Férec, Claude and Chen, Jian-Min 2022. Trypsinogen (PRSS1 and PRSS2) gene dosage correlates with pancreatitis risk across genetic and transgenic studies: a systematic review and re-analysis. Human Genetics 141 , pp. 1327-1338. 10.1007/s00439-022-02436-x

Xiu, Xuehao, Zhang, Haoyang, Xue, Angli, Cooper, David N.

, Yan, Li, Yang, Yuedong, Yang, Yuanhao and Zhao, Huiying 2022. Genetic evidence for a causal relationship between type 2 diabetes and peripheral artery disease in both Europeans and East Asians. BMC Medicine 20 (1) , 300. 10.1186/s12916-022-02476-0

Masson, Emmanuelle, Zou, Wen-Bin, Génin, Emmanuelle, Cooper, David N.

, Le Gac, Gerald, Fichou, Yann, Pu, Na, Rebours, Vinciane, Férec, Claude, Liao, Zhuan and Chen, Jian-Min 2022. Expanding ACMG variant classification guidelines into a general framework. Human Genomics 16 (1) , 31. 10.1186/s40246-022-00407-x

Rastogi, Ruchir, Stenson, Peter D., Cooper, David N.

and Bejerano, Gill 2022. X-CAP improves pathogenicity prediction of stopgain variants. Genome Medicine 14 (1) , 81. 10.1186/s13073-022-01078-y

Génin, Emmanuelle, Cooper, David N.

, Masson, Emmanuelle, Férec, Claude and Chen, Jian-Min 2022. NGS mismapping confounds the clinical interpretation of the PRSS1 p.Ala16Val (c.47C>T) variant in chronic pancreatitis. Gut 71 , pp. 841-842. 10.1136/gutjnl-2021-324943

Qi, Mengling, Stenson, Peter D., Ball, Edward V., Tainer, John A., Bacolla, Albino, Kehrer-Sawatzki, Hildegard, Cooper, David N.

and Zhao, Huiying 2022. Distinct sequence features underlie microdeletions and gross deletions in the human genome. Human Mutation 43 (3) , pp. 328-346. 10.1002/humu.24314

Quinodoz, Mathieu, Peter, Virginie G., Cisarova, Katarina, Royer-Bertrand, Beryl, Stenson, Peter D., Cooper, David N.

, Unger, Sheila, Superti-Furga, Andrea and Rivolta, Carlo 2022. Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity. American Journal of Human Genetics 109 (3) , pp. 457-470. 10.1016/j.ajhg.2022.01.006

Hamada, Shin, Masson, Emmanuelle, Chen, Jian?Min, Sakaguchi, Reiko, Rebours, Vinciane, Buscail, Louis, Matsumoto, Ryotaro, Tanaka, Yu, Kikuta, Kazuhiro, Kataoka, Fumiya, Sasaki, Akira, Le Rhun, Marc, Audin, Hela, Lachaux, Alain, Caumont, Bernard, Lorenzo, Diane, Billiemaz, Kareen, Besnard, Raphael, Koch, Stéphane, Lamireau, Thierry, De Koninck, Xavier, Génin, Emmanuelle, Cooper, David N.

, Mori, Yasuo, Masamune, Atsushi and Férec, Claude 2022. Functionally deficient TRPV6 variants contribute to hereditary and familial chronic pancreatitis. Human Mutation 43 (2) , pp. 228-239. 10.1002/humu.24315

Kehrer-Sawatzki, Hildegard and Cooper, David N.

2022. Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants. Human Genetics 141 (2) , 177–191. 10.1007/s00439-021-02410-z

Chen, Jian-Min, Cooper, David N.

and Férec, Claude 2022. No convincing evidence to support a bimodal age of onset in idiopathic chronic pancreatitis. Clinical Gastroenterology and Hepatology 20 (1) , pp. 244-245. 10.1016/j.cgh.2021.01.049

Mao, Xiao-Tong, Zou, Wen-Bin, Cao, Yu, Wang, Yuan-Chen, Deng, Shun-Jiang, Cooper, David N.

, Férec, Claude, Li, Zhao-Shen, Chen, Jian-Min and Liao, Zhuan 2022. The CEL-HYB1 hybrid allele promotes digestive enzyme misfolding and pancreatitis in mice. Cellular and Molecular Gastroenterology and Hepatology 14 (1) , pp. 55-74. 10.1016/j.jcmgh.2022.03.013

Kehrer-Sawatzki, Hildegard and Cooper, David N.

2021. Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletions. Human Genetics 140 , pp. 1635-1649. 10.1007/s00439-021-02363-3

Pu, Na, Masson, Emmanuelle, Cooper, David N.

, Génin, Emmanuelle, Férec, Claude and Chen, Jian-Min 2021. Chronic pancreatitis: the true pathogenic culprit within the SPINK1 N34S-containing haplotype is no longer at large. Genes 12 (11) , 1683. 10.3390/genes12111683

Kehrer-Sawatzki, Hildegard, Wahlländer, Ute, Cooper, David N.

and Mautner, Victor-Felix 2021. Atypical NF1 microdeletions: challenges and opportunities for Genotype/Phenotype correlations in patients with large NF1 deletions. Genes 12 (10) , 1639. 10.3390/genes12101639

Serrano, Catarina, Teixeira, Carla S. S., Cooper, David N.

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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)

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

Ng, Hong Kiat, Ku, Chee-Seng, Cooper, David Neil

and Soong, Richie 2013. Clinical relevance of miRNAs in cancer. 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. Roukos, Dimitrios H., ed. Next-Generation Sequencing & Molecular Diagnostics, Future Medicine Ltd, pp. 20-40. (10.2217/ebo.12.46)

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

Antonarakis, Stylianos E. and Cooper, David Neil

2013. Human gene mutation in inherited disease: Molecular mechanisms and clinical consequences. 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. 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)

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

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

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

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

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. 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. 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

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

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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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

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and Kehrer-Sawatzki, Hildegard 2011. Exploring the potential relevance of human-specific genes to complex disease. Human Genomics 5 (2) , pp. 99-107.

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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

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

, 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

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, 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

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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

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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

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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.

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.

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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

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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

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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

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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

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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

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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

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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

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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

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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

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2008. Growth hormone (GH1) gene variation and the growth hormone receptor (GHR) exon 3 deletion polymorphism in a West-African population. Molecular and Cellular Endocrinology 296 (1-2) , pp. 18-25. 10.1016/j.mce.2008.09.023

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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

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

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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

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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. Cooper, David Neil and Kehrer-Sawatzki, Hildegard, eds. Handbook of human molecular evolution, Chichester: John Wiley, pp. 1473-1485.

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

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

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. 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)

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

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

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

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), genetics. 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)

Upadhyaya, Meena and Cooper, David Neil

2006. Neurofibromatosis type 1 (NF1). 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. 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

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

2004. Neurofibromatosis type 1 (NF1): a common familial cancer syndrome. 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. 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. 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. 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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, Brandt, Petra, Nyakatura, Gerald, Adetobi, Margaret, Chiaromonte, Francesca, Elnitski, Laura, Eswara, Pallavi, Hardison, Ross C., Hou, Minmei, Kolbe, Diana, Makova, Kateryna, Miller, Webb, Nekrutenko, Anton, Riemer, Cathy, Schwartz, Scott, Taylor, James, Yang, Shan, Zhang, Yi, Lindpaintner, Klaus, Andrews, T. Dan, Caccamo, Mario, Clamp, Michele, Clarke, Laura, Curwen, Valerie, Durbin, Richard, Eyras, Eduardo, Searle, Stephen M., Cooper, Gregory M., Batzoglou, Serafim, Brudno, Michael, Sidow, Arend, Stone, Eric A., Craig Venter, J., Payseur, Bret A., Bourque, Guillaume, López-Otín, Carlos, Puente, Xose S., Chakrabarti, Kushal, Chatterji, Sourav, Dewey, Colin, Pachter, Lior, Bray, Nicolas, Yap, Von Bing, Caspi, Anat, Tesler, Glenn, Pevzner, Pavel A., Haussler, David, Roskin, Krishna M., Baertsch, Robert, Clawson, Hiram, Furey, Terrence S., Hinrichs, Angie S., Karolchik, Donna, Kent, William J., Rosenbloom, Kate R., Trumbower, Heather, Weirauch, Matt, Cooper, David Neil

, Stenson, Peter, Ma, Bin, Brent, Michael, Arumugam, Manimozhiyan, Shteynberg, David, Copley, Richard R., Taylor, Martin S., Riethman, Harold, Mudunuri, Uma, Peterson, Jane, Guyer, Mark, Felsenfeld, Adam, Old, Susan, Mockrin, Stephen and Collins, Francis 2004. Genome sequence of the Brown Norway rat yields insights into mammalian evolution. Nature 428 (6982) , pp. 493-521. 10.1038/nature02426

Cooper, David Neil

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

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

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 Neil

2003. Exons: insertion and deletion during evolution. 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. 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. 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. 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. 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. Cooper, David Neil, ed. Encyclopedia of the Human Genome, London: Nature Publishing Group, pp. 700-704.

Cooper, David Neil

2003. Pseudogenes and their evolution. 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). Potter, Nicholas T., ed. Neurogenetics, Vol. 217. Methods in Molecular Biology, Humana Press, pp. 315-328. (10.1385/1-59259-330-5:315)

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 N.

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

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

Antonarakis, S. E., Cooper, David Neil

and Krawczak, M. 2002. Mutations in human disease: nature and consequences. 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.

Cooper, David Neil

, Antonarakis, S. E. and Krawczak, M. 2002. The nature and mechanisms of human gene mutation. Vogelstein, B. and Kinzler, K. W., eds. The Genetic Basis of Human Cancer (2nd ed.), New York: McGraw-Hill, pp. 7-41.

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

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

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

Upadhyaya, Meena and Cooper, David Neil

2001. The molecular genetics of facioscapulohumeral muscular dystrophy. 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. 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

Krawczak, M., Ball, Edward Vincengt, Stenson, Peter Daniel and Cooper, David Neil

1999. HGMD: the human gene mutation database. Letovsky., S. I., ed. Bioinformatics; databases and systems, Boston: Kluwer Academic Publishers, pp. 99-104.

Cooper, David Neil

1999. Human gene evolution. Oxford: BIOS Scientific.

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

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. 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

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

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.

Krawczak, M. and Cooper, David Neil

1996. Mutational processes in pathology and evolution. 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

Lemoine, Nick and Cooper, David Neil

, eds. 1996. Gene therapy. Oxford: BIOS Scientific.

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. 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. 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. 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. 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.

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

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

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. 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. 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. Polli, E. E., ed. The molecular bases of human diseases, Amsterdam: Excerpta Medica, Elsevier, pp. 131-138.

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

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

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

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

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

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

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

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

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

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. 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

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.

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

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

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

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.

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

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. 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.

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

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

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

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

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

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

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

, 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

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

Cooper, David

1987. Gene expression in brain. FEBS Letters , pp. 201-202.

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.

Cooper, David Neil

and Schmidtke, J. 1986. Restriction fragment length polymorphisms in the human genome. Roberts, D. F. and De Stefano, G. F., eds. Genetic Variation and its Maintenance, Society for the Study of Human Biology Symposium Series, 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 (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

, 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

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, 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

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

This list was generated on Sat Nov 1 12:07:44 2025 GMT.