ORCA
Online Research @ Cardiff

Clear Cookie - decide language by browser settings

Browse by Current Cardiff authors

Number of items: 636.

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 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

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 10.1007/s00439-024-02661-6

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.

, Carneiro, João, Lopes-Marques, Mónica, Stenson, Peter D., Amorim, António, Prata, Maria J., Sousa, Sérgio F. and Azevedo, Luísa 2021. Compensatory epistasis explored by molecular dynamics simulations. Human Genetics 140 (9) , pp. 1329-1342. 10.1007/s00439-021-02307-x

Kars, M. Ece, Basak, A. Nazli, Onat, O. Emre, Bilguvar, Kaya, Choi, Jungmin, Itan, Yuval, Çalar, Caner, Palvadeau, Robin, Casanova, Jean-Laurent, Cooper, David N.

, Stenson, Peter D., Yavuz, Alper, Bulus, Hakan, Günel, Murat, Friedman, Jeffrey M. and Özçelik, Tayfun 2021. The genetic structure of the Turkish population reveals high levels of variation and admixture. Proceedings of the National Academy of Sciences 118 (36) , e2026076118. 10.1073/pnas.2026076118

Lopes-Marques, Mónica, Pacheco, Ana Rita, Peixoto, Maria João, Cardoso, Ana Rita, Serrano, Catarina, Amorim, António, Prata, Maria João, Cooper, David N.

and Azevedo, Luísa 2021. Common polymorphic OTC variants can act as genetic modifiers of enzymatic activity. Human Mutation 42 (8) , pp. 978-989. 10.1002/humu.24221

Lin, Jin-Huan, Wu, Hao, Zou, Wen-Bin, Masson, Emmanuelle, Fichou, Yann, Le Gac, Gerald, Cooper, David N.

, Férec, Claude, Liao, Zhuan and Chen, Jian-Min 2021. Splicing outcomes of 5′ splice site GT>GC variants that generate wild-type transcripts differ significantly between full-length and minigene splicing assays. Frontiers in Genetics 12 , 701652. 10.3389/fgene.2021.701652

Steinhaus, Robin, Proft, Sebastian, Schuelke, Markus, Cooper, David N.

, Schwarz, Jana Marie and Seelow, Dominik 2021. MutationTaster2021. Nucleic Acids Research 49 (W1) , W446–W451. 10.1093/nar/gkab266

Masson, Emmanuelle, Rebours, Vinciane, Buscail, Louis, Frete, Frederique, Pagenault, Mael, Lachaux, Alain, Chevaux, Jean-Baptiste, Genin, Emmanuelle, Cooper, David N.

, Ferec, Claude and Chen, Jian-Min 2021. The reversion variant (p.Arg90Leu) at the evolutionarily adaptive p.Arg90 site in CELA3B predisposes to chronic pancreatitis. Human Mutation 42 (4) , pp. 385-391. 10.1002/humu.24178

Chen, Jian-Min, Herzig, Anthony F., Génin, Emmanuelle, Masson, Emmanuelle, Cooper, David N.

and Férec, Claude 2021. Scale and scope of gene-alcohol interactions in chronic pancreatitis: a systematic review. Genes 12 (4) , 471. 10.3390/genes12040471

Yang, Qi, Pu, Na, Li, Xiao-Yao, Shi, Xiao-Lei, Chen, Wei-Wei, Zhang, Guo-Fu, Hu, Yue-Peng, Zhou, Jing, Chen, Fa-Xi, Li, Bai-Qiang, Tong, Zhi-Hui, Férec, Claude, Cooper, David N.

, Chen, Jian-Min and Li, Wei-Qin 2021. Digenic inheritance and gene-environment interaction in a patient with hypertriglyceridemia and acute pancreatitis. Frontiers in Genetics 12 , 640859. 10.3389/fgene.2021.640859

He, Dan, Fan, Cong, Qi, Mengling, Yang, Yuedong, Cooper, David N.

and Zhao, Huiying 2021. Prioritization of schizophrenia risk genes from GWAS results by integrating multi-omics data. Translational Psychiatry 11 (1) , 175. 10.1038/s41398-021-01294-x

Neville, Matthew D.C., Kohze, Robin, Erady, Chaitanya, Meena, Narendra, Hayden, Matthew, Cooper, David N.

, Mort, Matthew and Prabakaran, Sudhakaran 2021. A platform for curated products from novel Open Reading Frames (nORFs) prompts reinterpretation of disease variants. Genome Research 31 (2) , pp. 327-336. 10.1101/gr.263202.120

Higgins, Jan, Dalgleish, Raymond, Dunnen, Johan T., Barsh, Greg, Freeman, Peter J., Cooper, David N.

, Cullinan, Sara, Davies, Kay E., Dorkins, Huw, Gong, Li, Imoto, Issei, Klein, Teri E., Korf, Bruce, Misra, Adya, Paalman, Mark H., Ratzel, Sarah, Reichardt, Juergen K. V., Rehm, Heidi L., Tokunaga, Katsushi, Weck, Karen E. and Cutting, Garry R. 2021. Verifying nomenclature of DNA variants in submitted manuscripts: guidance for journals. Human Mutation 42 (1) , pp. 3-7. 10.1002/humu.24144

Bacolla, Albino, Sengupta, Shiladitya, Ye, Zu, Yang, Chunying, Mitra, Joy, De-Paula, Ruth B, Hegde, Muralidhar L, Ahmed, Zamal, Mort, Matthew, Cooper, David N

, Mitra, Sankar and Tainer, John A 2021. Heritable pattern of oxidized DNA base repair coincides with pre-targeting of repair complexes to open chromatin. Nucleic Acids Research 49 (1) , pp. 221-243. 10.1093/nar/gkaa1120

Wang, Ye, Zhong, Liangying, Xu, Yan, Ding, Lei, Ji, Yuanjun, Schutz, Sacha, Férec, Claude, Cooper, David N.

, Xu, Caixia, Chen, Jian-Min and Luo, Yanmin 2020. EXT1 and EXT2 variants in 22 Chinese families with multiple osteochondromas: seven new variants and potentiation of preimplantation genetic testing and prenatal diagnosis. Frontiers in Genetics 11 , 607838. 10.3389/fgene.2020.607838

Pejaver, Vikas, Urresti, Jorge, Lugo-Martinez, Jose, Pagel, Kymberleigh A., Lin, Guan Ning, Nam, Hyun-Jun, Mort, Matthew, Cooper, David N.

, Sebat, Jonathan, Iakoucheva, Lilia M., Mooney, Sean D. and Radivojac, Predrag 2020. Inferring the molecular and phenotypic impact of amino acid variants with MutPred2. Nature Communications 11 (1) , 5918. 10.1038/s41467-020-19669-x

Herzig, Anthony F., Génin, Emmanuelle, Cooper, David N.

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

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

2020. The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting. Human Genetics 139 , pp. 1197-1207. 10.1007/s00439-020-02199-3

Guéguen, Paul, Dupuis, Arnaud, Py, Jean-Yves, Desprès, Aurore, Masson, Emmanuelle, Le Marechal, Cédric, Cooper, David N.

, Gachet, Christian, Chen, Jian-Min and Férec, Claude 2020. Pathogenic and likely pathogenic variants in at least five genes account for approximately 3% of mild isolated nonsyndromic thrombocytopenia. Transfusion 60 (10) , pp. 2419-2431. 10.1111/trf.15992

Cardoso-Moreira, Margarida, Sarropoulos, Ioannis, Velten, Britta, Mort, Matthew, Cooper, David N.

, Huber, Wolfgang and Kaessmann, Henrik 2020. Developmental gene expression differences between humans and mammalian models. Cell Reports 33 (4) , 108308. 10.1016/j.celrep.2020.108308

Pu, Na, Yang, Qi, Shi, Xiao-Lei, Chen, Wei-Wei, Li, Xiao-Yao, Zhang, Guo-Fu, Li, Gang, Li, Bai-Qiang, Ke, Lu, Tong, Zhi-Hui, Cooper, David N.

, Chen, Jian-Min, Li, Wei-Qin and Li, Jie-Shou 2020. Gene-environment interaction between APOA5 c.553G>T and pregnancy in hypertriglyceridemia-induced acute pancreatitis. Journal of Clinical Lipidology 14 (4) 10.1016/j.jacl.2020.05.003

Rausell, Antonio, Luo, Yufei, Lopez, Marie, Seeleuthner, Yoann, Rapaport, Franck, Favier, Antoine, Stenson, Peter D., Cooper, David N.

, Patin, Etienne, Casanova, Jean-Laurent, Quintana-Murci, Lluis and Abel, Laurent 2020. Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes. Proceedings of the National Academy of Sciences 117 (24) , pp. 13626-13636. 10.1073/pnas.1917993117

Birgmeier, Johannes, Haeussler, Maximilian, Deisseroth, Cole A., Steinberg, Ethan H., Jagadeesh, Karthik A., Ratner, Alexander J., Guturu, Harendra, Wenger, Aaron M., Diekhans, Mark E., Stenson, Peter D., Cooper, David N.

, Ré, Christopher, Beggs, Alan H., Bernstein, Jonathan A. and Bejerano, Gill 2020. AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature. Science Translational Medicine 12 (544) , eaau9113. 10.1126/scitranslmed.aau9113

Lin, Jin-Huan, Boulling, Arnaud, Masson, Emmanuelle, Cooper, David N.

, Li, Zhao-Shen, Férec, Claude, Liao, Zhuan and Chen, Jian-Min 2020. Most unambiguous loss-of-function CPA1 mutations are unlikely to predispose to chronic pancreatitis. Gut 69 (4) , pp. 785-786. 10.1136/gutjnl-2019-318564

Birgmeier, Johannes, Deisseroth, Cole A., Hayward, Laura E., Galhardo, Luisa M. T., Tierno, Andrew P., Jagadeesh, Karthik A., Stenson, Peter D., Cooper, David N.

, Bernstein, Jonathan A., Haeussler, Maximilian and Bejerano, Gill 2020. AVADA: toward automated pathogenic variant evidence retrieval directly from the full-text literature. Genetics in Medicine 22 (2) , pp. 362-370. 10.1038/s41436-019-0643-6

Shi, Xiao-Lei, Yang, Qi, Pu, Na, Li, Xiao-Yao, Chen, Wei-Wei, Zhou, Jing, Li, Gang, Tong, Zhi-Hui, Férec, Claude, Cooper, David N.

, Chen, Jian-Min and Li, Wei-Qin 2020. Identification and functional characterization of a novel heterozygous missense variant in the LPL associated with recurrent hypertriglyceridemia-induced acute pancreatitis in pregnancy. Molecular Genetics and Genomic Medicine 8 (3) , e1048. 10.1002/mgg3.1048

Pei, Zhang, Jie-Si, Chen, Qi-Ye, Li, Long-Xiang, Sheng, Yi-Xing, Gao, Bing-Zheng, Lu, Wen-Bo, Zhu, Xiao-Yu, Zhan, Yuan, Li, Zhi-Bing, Yuan, Gang, Xu, Bi-Tao, Qiu, Min, Yan, Chun-Xue, Guo, You-Qiong, Wang, Yi-Jun, Huang, Jing-Xia, Zhang, Fu-Yu, Liu, Zhong-Wei, Tang, Sui-Zhen, Lin, Cooper, David N.

, Huan-Ming, Yang, Jian, Wang, Yu-Qi, Gao, Wei, Yin, Guo-Jie, Zhang and Guang-Mei, Yan 2020. Neuroprotectants attenuate hypobaric hypoxia-induced brain injuries in cynomolgus monkeys. Zoological Research 41 (1) , pp. 3-19. 10.24272/j.issn.2095-8137.2020.012

Chen, Jian-Min, Lin, Jin-Huan, Masson, Emmanuelle, Liao, Zhuan, Férec, Claude, Cooper, David N.

and Hayden, Matthew 2020. The experimentally obtained functional impact assessments of 5' splice site GT>GC variants differ markedly from those predicted. Current Genomics 21 (1) , pp. 56-66. 10.2174/1389202921666200210141701

Lin, Hai, Hargreaves, Katherine A., Li, Rudong, Reiter, Jill L., Wang, Yue, Mort, Matthew, Cooper, David N.

, Zhou, Yaoqi, Zhang, Chi, Eadon, Michael T., Dolan, M. Eileen, Ipe, Joseph, Skaar, Todd C. and Liu, Yunlong 2019. RegSNPs-intron: a computational framework for predicting pathogenic impact of intronic single nucleotide variants. Genome Biology 20 (1) , 254. 10.1186/s13059-019-1847-4

Gurdasani, Deepti, Carstensen, Tommy, Fatumo, Segun, Chen, Guanjie, Franklin, Chris S., Prado-Martinez, Javier, Bouman, Heleen, Abascal, Federico, Haber, Marc, Tachmazidou, Ioanna, Mathieson, Iain, Ekoru, Kenneth, DeGorter, Marianne K., Nsubuga, Rebecca N., Finan, Chris, Wheeler, Eleanor, Chen, Li, Cooper, David N.

, Schiffels, Stephen, Chen, Yuan, Ritchie, Graham R.S., Pollard, Martin O., Fortune, Mary D., Mentzer, Alex J., Garrison, Erik, Bergström, Anders, Hatzikotoulas, Konstantinos, Adeyemo, Adebowale, Doumatey, Ayo, Elding, Heather, Wain, Louise V., Ehret, George, Auer, Paul L., Kooperberg, Charles L., Reiner, Alexander P., Franceschini, Nora, Maher, Dermot P., Montgomery, Stephen B., Kadie, Carl, Widmer, Chris, Xue, Yali, Seeley, Janet, Asiki, Gershim, Kamali, Anatoli, Young, Elizabeth H., Pomilla, Cristina, Soranzo, Nicole, Zeggini, Eleftheria, Pirie, Fraser, Morris, Andrew P., Heckerman, David, Tyler-Smith, Chris, Motala, Ayesha, Rotimi, Charles, Kaleebu, Pontiano, Barroso, Ines and Sandhu, Manj S. 2019. Uganda genome resource enables insights into population history and genomic discovery in Africa. Cell 179 (4) , 984-1002.e36. 10.1016/j.cell.2019.10.004

Lin, Jin-Huan, Tang, Xin-Ying, Boulling, Arnaud, Zou, Wen-Bin, Masson, Emmanuelle, Fichou, Yann, Raud, Loann, Le Tertre, Marlène, Deng, Shun-Jiang, Berlivet, Isabelle, Ka, Chandran, Mort, Matthew, Hayden, Matthew, Leman, Raphaël, Houdayer, Claude, Le Gac, Gerald, Cooper, David N.

, Li, Zhao-Shen, Férec, Claude, Liao, Zhuan and Chen, Jian-Min 2019. First estimate of the scale of canonical 5' splice site GT>GC variants capable of generating wild-type transcripts. Human Mutation 40 (10) , pp. 1856-1873. 10.1002/humu.23821

Wang, Ye, Zhu, Caixia, Du, Liu, Li, Qiaoer, Lin, Mei-Fang, Férec, Claude, Cooper, David N.

, Chen, Jian-Min and Zhou, Yi 2019. Compound heterozygosity for novel truncating variants in the LMOD3 gene as the cause of polyhydramnios in two successive fetuses. Frontiers in Genetics 10 , -. 10.3389/fgene.2019.00835

Fragoza, Robert, Das, Jishnu, Wierbowski, Shayne D., Liang, Jin, Tran, Tina N., Liang, Siqi, Beltran, Juan F., Rivera-Erick, Christen A., Ye, Kaixiong, Wang, Ting-Yi, Yao, Li, Mort, Matthew, Stenson, Peter D., Cooper, David N.

, Wei, Xiaomu, Keinan, Alon, Schimenti, John C., Clark, Andrew G. and Yu, Haiyuan 2019. Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. Nature Communications 10 (1) , 4141. 10.1038/s41467-019-11959-3

Simeonidis, Stavros, Koutsilieri, Stefania, Vozikis, Athanassios, Cooper, David N.

, Mitropoulou, Christina and Patrinos, George P. 2019. Application of economic evaluation to assess feasibility for reimbursement of genomic testing as part of personalized medicine interventions. Frontiers in Pharmacology 10 , 830. 10.3389/fphar.2019.00830

Cardoso-Moreira, Margarida, Halbert, Jean, Valloton, Delphine, Velten, Britta, Chen, Chunyan, Shao, Yi, Liechti, Angélica, Ascenção, Kelly, Rummel, Coralie, Ovchinnikova, Svetlana, Mazin, Pavel V., Xenarios, Ioannis, Harshman, Keith, Mort, Matthew, Cooper, David N.

, Sandi, Carmen, Soares, Michael J., Ferreira, Paula G., Afonso, Sandra, Carneiro, Miguel, Turner, James M. A., VandeBerg, John L., Fallahshahroudi, Amir, Jensen, Per, Behr, Rüdiger, Lisgo, Steven, Lindsay, Susan, Khaitovich, Philipp, Huber, Wolfgang, Baker, Julie, Anders, Simon, Zhang, Yong E. and Kaessmann, Henrik 2019. Gene expression across mammalian organ development. Nature 571 , 505 - 509. 10.1038/s41586-019-1338-5

Zhang, Peng, Boisson, Bertrand, Stenson, Peter D., Cooper, David N.

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

Schwarz, Jana Marie, Hombach, Daniela, Köhler, Sebastian, Cooper, David N

, Schuelke, Markus and Seelow, Dominik 2019. RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants. Nucleic Acids Research 47 (W1) , W106-W113. 10.1093/nar/gkz327

Pagel, Kymberleigh A., Antaki, Danny, Lian, AoJie, Mort, Matthew, Cooper, David N.

, Sebat, Jonathan, Iakoucheva, Lilia M., Mooney, Sean D. and Radivojac, Predrag 2019. Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome. PLoS Computational Biology 15 (6) , e1007112. 10.1371/journal.pcbi.1007112

Johnston, Jennifer J., Williamson, Kathleen A., Chou, Christopher M., Sapp, Julie C., Ansari, Morad, Chapman, Heather M., Cooper, David N.

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

Jagadeesh, Karthik A., Paggi, Joseph M., Ye, James S., Stenson, Peter D., Cooper, David N.

, Bernstein, Jonathan A. and Bejerano, Gill 2019. S-CAP extends pathogenicity prediction to genetic variants that affect RNA splicing. Nature Genetics 51 (4) , pp. 755-763. 10.1038/s41588-019-0348-4

Rogozin, Igor, Roche-Lima, Abiel, Lada, Artem, Belinky, Frida, Sidorenko, Ivan, Glazko, Galina, Babenko, Vladimir, Cooper, David

and Pavlov, Youri 2019. Nucleotide weight matrices reveal ubiquitous mutational footprints of AID/APOBEC deaminases in human cancer genomes. Cancers 11 (2) , 211. 10.3390/cancers11020211

Tang, Xin-Ying, Lin, Jin-Huan, Zou, Wen-Bin, Masson, Emmanuelle, Boulling, Arnaud, Deng, Shun-Jiang, Cooper, David N.

, Liao, Zhuan, Férec, Claude, Li, Zhao-Shen and Chen, Jian-Min 2019. Toward a clinical diagnostic pipeline for SPINK1 intronic variants. Human Genomics 13 (1) , 8. 10.1186/s40246-019-0193-7

Maffucci, Patrick, Bigio, Benedetta, Rapaport, Franck, Cobat, Aurélie, Borghesi, Alessandro, Lopez, Marie, Patin, Etienne, Bolze, Alexandre, Shang, Lei, Bendavid, Matthieu, Scott, Eric M., Stenson, Peter D., Cunningham-Rundles, Charlotte, Cooper, David N.

, Gleeson, Joseph G., Fellay, Jacques, Quintana-Murci, Lluis, Casanova, Jean-Laurent, Abel, Laurent, Boisson, Bertrand and Itan, Yuval 2019. Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis. Proceedings of the National Academy of Sciences 116 , pp. 950-959. 10.1073/pnas.1808403116

Summerer, Anna, Schäfer, Eleonora, Mautner, Victor-Felix, Messiaen, Ludwine, Cooper, David N.

and Kehrer-Sawatzki, Hildegard 2019. Ultra-deep amplicon sequencing indicates absence of low-grade mosaicism with normal cells in patients with type-1 NF1 deletions. Human Genetics 138 (1) , pp. 73-81. 10.1007/s00439-018-1961-5

Robinson-Rechavi, Marc, Mohammed Ismail, Wazim, Pagel, Kymberleigh A., Pejaver, Vikas, Zhang, Simo V., Casasa, Sofia, Mort, Matthew, Cooper, David

, Hahn, Matthew W. and Radivojac, Predrag 2018. The sequencing and interpretation of the genome obtained from a Serbian individual. PLoS ONE 13 (12) , e0208901. 10.1371/journal.pone.0208901

Zou, Wen-Bin, Tang, Xin-Ying, Zhou, Dai-Zhan, Qian, Yang-Yang, Hu, Liang-Hao, Yu, Fei-Fei, Yu, Dong, Wu, Hao, Deng, Shun-Jiang, Lin, Jin-Huan, Zhao, An-Jing, Zhao, Zhen-Hua, Wu, Hong-Yu, Zhu, Jia-Hui, Qian, Wei, Wang, Lei, Xin, Lei, Wang, Min-Jun, Wang, Li-Juan, Fang, Xue, He, Lin, Masson, Emmanuelle, Cooper, David N.

, Férec, Claude, Li, Zhao-Shen, Chen, Jian-Min and Liao, Zhuan 2018. SPINK1, PRSS1, CTRC, and CFTR genotypes influence disease onset and clinical outcomes in chronic pancreatitis. Clinical and Translational Gastroenterology 9 (11) , 204. 10.1038/s41424-018-0069-5

Birgmeier, Johannes, Tierno, Andrew, Stenson, Peter, Deisseroth, Cole, Jagadeesh, Karthik, Cooper, David

, Bernstein, Jonathan, Haeussler, Maximilian and Bejerano, Gill 2018. AVADA improves automated genetic variant database construction directly from full-text literature. [Online]. BioRxiv. Available at: http://dx.doi.org/10.1101/461269

Rogozin, Igor B., Pavlov, Youri I., Goncearenco, Alexander, De, Subhajyoti, Lada, Artem G., Poliakov, Eugenia, Panchenko, Anna R. and Cooper, David N.

2018. Mutational signatures and mutable motifs in cancer genomes. Briefings in Bioinformatics 19 (6) , pp. 1085-1101. 10.1093/bib/bbx049

Caciotti, Anna, Tonin, Rodolfo, Mort, Matthew, Cooper, David N.

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

Kehrer-Sawatzki, Hildegard, Kluwe, Lan, Friedrich, Reinhard E., Summerer, Anna, Schäfer, Eleonora, Wahlländer, Ute, Matthies, Cordula, Gugel, Isabel, Farschtschi, Said, Hagel, Christian, Cooper, David N.

and Mautner, Victor-Felix 2018. Phenotypic and genotypic overlap between mosaic NF2 and schwannomatosis in patients with multiple non-intradermal schwannomas. Human Genetics 137 (6-7) , pp. 543-552. 10.1007/s00439-018-1909-9

Summerer, Anna, Mautner, Victor-Felix, Upadhyaya, Meena, Claes, Kathleen B. M., Högel, Josef, Cooper, David N.

, Messiaen, Ludwine and Kehrer-Sawatzki, Hildegard 2018. Extreme clustering of type-1 NF1 deletion breakpoints co-locating with G-quadruplex forming sequences. Human Genetics 137 (6-7) , pp. 511-520. 10.1007/s00439-018-1904-1

Requena, David, Maffucci, Patrick, Bigio, Benedetta, Shang, Lei, Abhyankar, Avinash, Boisson, Bertrand, Stenson, Peter D, Cooper, David N

, Cunningham-Rundles, Charlotte, Casanova, Jean-Laurent, Abel, Laurent and Itan, Yuval 2018. CDG: an online server proposing biologically closest disease-causing genes and pathologies and its application to primary immunodeficiency. Frontiers in Immunology 9 , 1340. 10.3389/fimmu.2018.01340

Cooper, David N.

, Mitropoulou, Christina, Brand, Angela, Dolzan, Vita, Fortina, Paolo, Innocenti, Federico, Lee, Ming T.M., Macek, Milan, Mitropoulos, Konstantinos, Al-Mulla, Fahd, Prainsack, Barbara, van Schaik, Ron H., Squassina, Alessio, Taruscio, Domenica, Vayena, Effy, Vozikis, Athanassios, Williams, Marc S., Ylstra, Bauke and Patrinos, George P. 2018. The Genomic Medicine Alliance: A global effort to facilitate the introduction of genomics into healthcare in developing nations. Lopez-Correa, Catalina and Patrinos, George, eds. Genomic Medicine in Emerging Economies: Genomics for Every Nation, Translational and Applied Genomics, Elsevier, pp. 173-188. (10.1016/B978-0-12-811531-2.00008-4)

Neuhäusler, Lisa, Summerer, Anna, Cooper, David N.

, Mautner, Victor-F. and Kehrer-Sawatzki, Hildegard 2018. Pronounced maternal parent-of-origin bias for type-1 NF1 microdeletions. Human Genetics 137 (5) , pp. 365-373. 10.1007/s00439-018-1888-x

Rogozin, Igor B., Goncearenco, Alexander, Lada, Artem G., De, Subhajyoti, Nudelman, German, Panchenko, Anna R., Cooper, David N.

and Pavlov, Youri I. 2018. DNA polymerase η mutational signatures are found in a variety of different types of cancer. Cell Cycle 17 (3) , pp. 348-355. 10.1080/15384101.2017.1404208

Masson, Emmanuelle, Chen, Jian-Min, Cooper, David

and Férec, Claude 2018. PRSS1 copy number variants and promoter polymorphisms in pancreatitis: common pathogenetic mechanism, different genetic effects. Gut 67 (3) , pp. 592-593. 10.1136/gutjnl-2017-314443

Rogers, Mark F., Shihab, Hashem A., Mort, Matthew, Cooper, David

, Gaunt, Tom R. and Campbell, Colin 2018. FATHMM-XF: accurate prediction of pathogenic point mutations via extended features. Bioinformatics 34 (3) , pp. 511-513. 10.1093/bioinformatics/btx536

Zhao, Huiying, Yang, Yuedong, Lu, Yutong, Mort, Matthew, Cooper, David N.

, Zuo, Zhiyi and Zhou, Yaoqi 2018. Quantitative mapping of genetic similarity in human heritable diseases by shared mutations. Human Mutation 39 (2) , pp. 292-301. 10.1002/humu.23358

Wang, Ye, Wu, Xueli, Du, Liu, Zheng, Ju, Deng, Songqing, Bi, Xin, Chen, Qiuyan, Xie, Hongning, Férec, Claude, Cooper, David Neil

, Luo, Yanmin, Fang, Qun and Chen, Jian-Min 2018. Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly. Human Genomics 12 (1) , 3. 10.1186/s40246-018-0135-9

Bacolla, Albino, Cooper, David Neil

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

Mitropoulos, Konstantinos, Merkouri Papadima, Eleni, Xiromerisiou, Georgia, Balasopoulou, Angeliki, Charalampidou, Kyriaki, Galani, Vasiliki, Zafeiri, Krystallia-Vassiliki, Dardiotis, Efthymios, Ralli, Styliani, Deretzi, Georgia, John, Anne, Kydonopoulou, Kyriaki, Papadopoulou, Elpida, di Pardo, Alba, Akcimen, Fulya, Loizedda, Annalisa, Dobricic, Valerija, Novakovic, Ivana, Kostic, Vladimir S., Mizzi, Clint, Peters, Brock A., Basak, Nazli, Orrù, Sandro, Kiskinis, Evangelos, Cooper, David Neil

, Gerou, Spyridon, Drmanac, Radoje, Bartsakoulia, Marina, Tsermpini, Evangelia-Eirini, Hadjigeorgiou, Georgios M., Ali, Bassam R., Katsila, Theodora and Patrinos, George P. 2017. Genomic variants in the FTO gene are associated with sporadic amyotrophic lateral sclerosis in Greek patients. Human Genomics 11 (1) , 30. 10.1186/s40246-017-0126-2

Venet, Théa, Masson, Emmanuelle, Talbotec, Cécile, Billiemaz, Kareen, Touraine, Renaud, Gay, Claire, Destombe, Sylvie, Cooper, David

, Patural, Hugues, Chen, Jian-Min and Férec, Claude 2017. Severe infantile isolated exocrine pancreatic insufficiency caused by the complete functional loss of the SPINK1 gene. Human Mutation 38 (12) , pp. 1660-1665. 10.1002/humu.23343

Hillmer, Morten, Summerer, Anna, Mautner, Victor-Felix, Högel, Josef, Cooper, David Neil

and Kehrer-Sawatzki, Hildegard 2017. Consideration of the haplotype diversity at nonallelic homologous recombination hotspots improves the precision of rearrangement breakpoint identification. Human Mutation 38 (12) , pp. 1711-1722. 10.1002/humu.23319

Wu, Hao, Boulling, Arnaud, Cooper, David Neil

, Li, Zhao-Shen, Liao, Zhuan, Chen, Jian-Min and Férec, Claude 2017. In vitro and in silico evidence against a significant effect of the SPINK1 c.194G>A variant on pre-mRNA splicing [Letter]. Gut 66 (12) , pp. 2195-2196. 10.1136/gutjnl-2017-313948

Mitropoulos, Konstantinos, Cooper, David Neil

, Mitropoulou, Christina, Agathos, Spiros, Reichardt, Jürgen K.V., Al-Maskari, Fatima, Chantratita, Wasun, Wonkam, Ambroise, Dandara, Collet, Katsila, Theodora, Lopez-Correa, Catalina, Ali, Bassam R. and Patrinos, George P. 2017. Genomic medicine without borders: which strategies should developing countries employ to invest in precision medicine? A new "fast-second winner" strategy. OMICS: A Journal of Integrative Biology 21 (11) , pp. 647-657. 10.1089/omi.2017.0141

Wu, Hao, Boulling, Arnaud, Cooper, David

, Li, Zhao-Shen, Liao, Zhuan, Férec, Claude and Chen, Jian-Min 2017. Analysis of the impact of known SPINK1 missense variants on re-mRNA splicing and/or mRNA stability in a full-length gene assay. Genes 8 (10) , 263. 10.3390/genes8100263

Ferlaino, Michael, Rogers, Mark F., Shihab, Hashem A., Mort, Matthew, Cooper, David

, Gaunt, Tom R. and Campbell, Colin 2017. An integrative approach to predicting the functional effects of small indels in non-coding regions of the human genome. BMC bioinformatics 18 (1) , 442. 10.1186/s12859-017-1862-y

Lu, Tianyun, Ish-Shalom, Shirbi, Torng, Wen, Lafita, Aleix, Bock, Christian, Mort, Matthew, Cooper, David Neil

, Bliven, Spencer, Capitani, Guido, Mooney, Sean D. and Altman, Russ. B. 2017. Biological and functional relevance of CASP predictions. Proteins 10.1002/prot.25396

Livingstone, Mark, Folkman, Lukas, Yang, Yuedong, Zhang, Ping, Mort, Matthew, Cooper, David

, Liu, Yunlong, Stantic, Bela and Zhou, Yaoqi 2017. Investigating DNA-, RNA-, and protein-based features as a means to discriminate pathogenic synonymous variants. Human Mutation 38 (10) , pp. 1336-1347. 10.1002/humu.23283

Zhang, Xinjun, Li, Meng, Lin, Hai, Rao, Xi, Feng, Weixing, Yang, Yuedong, Mort, Matthew, Cooper, David

, Wang, Yue, Wang, Yadong, Wells, Clark, Zhou, Yaoqi and Liu, Yunlong 2017. regSNPs-splicing: a tool for prioritizing synonymous single-nucleotide substitution. Human Genetics 136 (9) , pp. 1279-1289. 10.1007/s00439-017-1783-x

Zou, Wen-Bin, Cooper, David N.

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

Liao, Zhuan, Li, Zhao-Shen, Cooper, David N.

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

Boulling, Arnaud, Masson, Emmanuelle, Zou, Wen-Bin, Paliwal, Sumit, Wu, Hao, Issarapu, Prachand, Bhaskar, Seema, Génin, Emmanuelle, Cooper, David

, Li, Zhao-Shen, Chandak, Giriraj R, Liao, Zhuan, Chen, Jian-Min and Férec, Claude 2017. Identification of a functional enhancer variant within the chronic pancreatitis-associated SPINK1 c.101A>G (p.Asn34Ser)-containing haplotype. Human Mutation 38 (8) , pp. 1014-1024. 10.1002/humu.23269

Pagel, Kymberleigh A., Pejaver, Vikas, Lin, Guan Ning, Nam, Hyun-Jun, Mort, Matthew, Cooper, David Neil

, Sebat, Jonathan, Iakoucheva, Lilia M., Mooney, Sean D. and Radivojac, Predrag 2017. When loss-of-function is loss of function: assessing mutational signatures and impact of loss-of-function genetic variants. Bioinformatics 33 (14) , i389-i398. 10.1093/bioinformatics/btx272

Lualdi, Susanna, Del Zotto, Genny, Zegarra-Moran, Olga, Pedemonte, Nicoletta, Corsolini, Fabio, Bruschi, Maurizio, Tomati, Valeria, Amico, Giulia, Candiano, Giovanni, Dardis, Andrea, Cooper, David Neil

and Filocamo, Mirella 2017. In vitro recapitulation of the site-specific editing (to wild-type) of mutant IDS mRNA transcripts, and the characterization of IDS protein translated from the edited mRNAs. Human Mutation 38 (7) , pp. 849-862. 10.1002/humu.23243

Philpott, Charlotte, Tovell, Hannah, Frayling, Ian Martin, Cooper, David Neil

and Upadhyaya, Meena 2017. The NF1 somatic mutational landscape in sporadic human cancers. Human Genomics 11 (1) , 13. 10.1186/s40246-017-0109-3

Stenson, Peter D., Mort, Matthew, Ball, Edward V., Evans, Katy, Hayden, Matthew, Heywood, Sally, Hussain, Michelle, Phillips, Andrew and Cooper, David N.

2017. The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. Human Genetics 136 (6) , pp. 665-677. 10.1007/s00439-017-1779-6

Wu, Hao, Zhou, Dai-Zhan, Berki, Dorottya, Geisz, Andrea, Zou, Wen-Bin, Sun, Xiao-Tian, Hu, Liang-Hao, Zhao, Zhen-Hua, Zhao, An-Jing, He, Lin, Cooper, David

, Férec, Claude, Chen, Jian-Min, Li, Zhao-Shen, Sahin-Tóth, Miklós and Liao, Zhuan 2017. No significant enrichment of rare functionally defective CPA1 variants in a large Chinese idiopathic chronic pancreatitis cohort. Human Mutation 38 (8) , pp. 959-963. 10.1002/humu.23254

Zou, Wen-Bin, Wu, Hao, Boulling, Arnaud, Cooper, David Neil

, Li, Zhao-Shen, Liao, Zhuan, Chen, Jian-Min and Férec, Claude 2017. In silico prioritization and further functional characterization of SPINK1 intronic variants. Human Genomics 11 (7) 10.1186/s40246-017-0103-9

Kehrer‑Sawatzki, Hildegard, Mautner, Victor‑Felix and Cooper, David N

2017. Emerging genotype-phenotype relationships in patients with large NF1 deletions. Human Genetics 136 , pp. 349-376. 10.1007/s00439-017-1766-y

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

2017. The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis. Human Genetics 136 (2) , pp. 129-148. 10.1007/s00439-016-1753-8

Knecht, Carolin, Mort, Matthew, Junge, Olaf, Cooper, David Neil

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

Liang, Siqi, Tippens, Nathaniel D., Zhou, Yaoda, Mort, Matthew, Stenson, Peter D., Cooper, David Neil

and Yu, Haiyuan 2017. iRegNet3D: three-dimensional integrated regulatory network for the genomic analysis of coding and non-coding disease mutations. Genome Biology 18 (1) , 10. 10.1186/s13059-016-1138-2

Li, Meng, Feng, Weixing, Zhang, Xinjun, Yang, Yuedong, Wang, Kejun, Mort, Matthew, Cooper, David Neil

, Wang, Yue, Zhou, Yaoqi and Liu, Yunlong 2017. ExonImpact: prioritizing pathogenic alternative splicing events. Human Mutation 38 (1) , pp. 16-24. 10.1002/humu.23111

Vozikis, Athanassios, Cooper, David Neil

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

Ku, Chee-Seng, Cooper, David Neil

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

Jagadeesh, Karthik A., Wenger, Aaron M., Berger, Mark J., Guturu, Harendra, Stenson, Peter D., Cooper, David N.

, Bernstein, Jonathan A. and Bejerano, Gill 2016. M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity. Nature Genetics 48 (12) , pp. 1581-1586. 10.1038/ng.3703

Hillmer, Morten, Wagner, David, Summerer, Anna, Daiber, Michaela, Mautner, Victor-Felix, Messiaen, Ludwine, Cooper, David Neil

and Kehrer-Sawatzki, Hildegard 2016. Fine mapping of meiotic NAHR-associated crossovers causing large NF1 deletions. Human Molecular Genetics 25 (3) , pp. 484-496. 10.1093/hmg/ddv487

Kehrer-Sawatzki, Hildegard and Cooper, David Neil

2016. Sequencing the Human Genome: Novel insights into its structure and function. eLS 10.1002/9780470015902.a0001899.pub3

Boulling, Arnaud, Abrantes, Amandine, Masson, Emmanuelle, Cooper, David Neil

, Robaszkiewicz, Michel, Chen, Jian-Min and Férec, Claude 2016. Discovery and functional annotation of PRSS1 promoter variants in chronic pancreatitis. Human Mutation 37 (11) , pp. 1149-1152. 10.1002/humu.23053

Azevedo, Luisa, Mort, Matthew, Costa, Antonio C, Silva, Raquel M, Quelhas, Dulce, Amorim, Antonio and Cooper, David Neil

2016. Improving the in silico assessment of pathogenicity for compensated variants. European Journal of Human Genetics 25 (1) , pp. 2-7. 10.1038/ejhg.2016.129

Peterson, Thomas A., Mort, Matthew, Cooper, David Neil

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

Lugo-Martinez, Jose, Pejaver, Vikas, Pagel, Kymberleigh A., Jain, Shantanu, Mort, Matthew, Cooper, David Neil

, Mooney, Sean D. and Radivojac, Predrag 2016. The loss and gain of functional amino acid residues is a common mechanism causing human inherited disease. PLoS Computational Biology 12 (8) , e1005091. 10.1371/journal.pcbi.1005091

Lek, Monkol, Karczewski, Konrad J., Minikel, Eric V., Samocha, Kaitlin E., Banks, Eric, Fennell, Timothy, O'Donnell-Luria, Anne H., Ware, James S., Hill, Andrew J., Cummings, Beryl B., Tukiainen, Taru, Birnbaum, Daniel P., Kosmicki, Jack A., Duncan, Laramie E., Estrada, Karol, Zhao, Fengmei, Zou, James, Pierce-Hoffman, Emma, Berghout, Joanne, Cooper, David N.

, Deflaux, Nicole, DePristo, Mark, Do, Ron, Flannick, Jason, Fromer, Menachem, Gauthier, Laura, Goldstein, Jackie, Gupta, Namrata, Howrigan, Daniel, Kiezun, Adam, Kurki, Mitja I., Moonshine, Ami Levy, Natarajan, Pradeep, Orozco, Lorena, Peloso, Gina M., Poplin, Ryan, Rivas, Manuel A., Ruano-Rubio, Valentin, Rose, Samuel A., Ruderfer, Douglas M., Shakir, Khalid, Stenson, Peter D., Stevens, Christine, Thomas, Brett P., Tiao, Grace, Tusie-Luna, Maria T., Weisburd, Ben, Won, Hong-Hee, Yu, Dongmei, Altshuler, David M., Ardissino, Diego, Boehnke, Michael, Danesh, John, Donnelly, Stacey, Elosua, Roberto, Florez, Jose C., Gabriel, Stacey B., Getz, Gad, Glatt, Stephen J., Hultman, Christina M., Kathiresan, Sekar, Laakso, Markku, McCarroll, Steven, McCarthy, Mark I., McGovern, Dermot, McPherson, Ruth, Neale, Benjamin M., Palotie, Aarno, Purcell, Shaun M., Saleheen, Danish, Scharf, Jeremiah M., Sklar, Pamela, Sullivan, Patrick F., Tuomilehto, Jaakko, Tsuang, Ming T., Watkins, Hugh C., Wilson, James G., Daly, Mark J., MacArthur, Daniel G. and Exome Aggregation Consortium 2016. Analysis of protein-coding genetic variation in 60,706 humans. Nature 536 , pp. 285-291. 10.1038/nature19057

Matos, Sérgio, Campos, David, Pinho, Renato, Silva, Raquel M., Mort, Matthew, Cooper, David Neil

and Oliveira, José Luís 2016. Mining clinical attributes of genomic variants through assisted literature curation in Egas. Database 2016 , baw096. 10.1093/database/baw096

Zou, Wen-Bin, Boulling, Arnaud, Masamune, Atsushi, Issarapu, Prachand, Masson, Emmanuelle, Wu, Hao, Sun, Xiao-Tian, Hu, Liang-Hao, Zhou, Dai-Zhan, He, Lin, Fichou, Yann, Nakano, Eriko, Hamada, Shin, Kakuta, Yoichi, Kume, Kiyoshi, Isayama, Hiroyuki, Paliwal, Sumit, Mani, K. Radha, Bhaskar, Seema, Cooper, David Neil

, Férec, Claude, Shimosegawa, Tooru, Chandak, Giriraj R., Chen, Jian-Min, Li, Zhao-Shen and Liao, Zhuan 2016. No association between CEL-HYB hybrid allele and chronic pancreatitis in Asian populations. Gastroenterology 150 (7) , pp. 1558-1560. 10.1053/j.gastro.2016.02.071

Meyer, Michael J., Lapcevic, Ryan, Romero, Alfonso E., Yoon, Mark, Das, Jishnu, Beltrán, Juan Felipe, Mort, Matthew, Stenson, Peter Daniel, Cooper, David Neil

, Paccanaro, Alberto and Yu, Haiyuan 2016. mutation3D: cancer gene prediction through atomic clustering of coding variants in the structural proteome. Human Mutation 37 (5) , pp. 447-456. 10.1002/humu.22963

Bacolla, Albino, Tainer, John A., Vasquez, Karen M. and Cooper, David Neil

2016. Translocation and deletion breakpoints in cancer genomes are associated with potential non-B DNA-forming sequences. Nucleic Acids Research 44 (12) , pp. 5673-5688. 10.1093/nar/gkw261

Zou, Wen-Bin, Boulling, Arnaud, Masson, Emmanuelle, Cooper, David Neil

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

Chen, Jian-Min and Cooper, David Neil

2016. A mechanistic link between L1 retrotransposition and chromothripsis. Human Mutation 37 (4) , p. 329. 10.1002/humu.22870

Zou, Wen-Bin, Masson, Emmanuelle, Boulling, Arnaud, Cooper, David Neil

, Li, Zhao-Shen, Liao, Zhuan, Férec, Claude and Chen, Jian-Min 2016. Digging deeper into the intronic sequences of the SPINK1 gene [Letter]. Gut 65 (6) , pp. 1055-1056. 10.1136/gutjnl-2016-311428

Itan, Yuval, Shang, Lei, Boisson, Bertrand, Ciancanelli, Michael J, Markle, Janet G, Martinez-Barricarte, Ruben, Scott, Eric, Shah, Ishaan, Stenson, Peter Daniel, Gleeson, Joseph, Cooper, David Neil

, Quintana-Murci, Lluis, Zhang, Shen-Ying, Abel, Laurent and Casanova, Jean-Laurent 2016. The mutation significance cutoff: gene-level thresholds for variant predictions [Letter]. Nature Methods 13 (2) , pp. 109-110. 10.1038/nmeth.3739

Itan, Yuval, Shang, Lei, Boisson, Bertrand, Patin, Etienne, Bolze, Alexandre, Moncada-Vélez, Marcela, Scott, Eric, Ciancanelli, Michael J., Lafaille, Fabien G., Markle, Janet G., Martinez-Barricarte, Ruben, de Jong, Sarah Jill, Kong, Xiao-Fei, Nitschke, Patrick, Belkadi, Aziz, Bustamante, Jacinta, Puel, Anne, Boisson-Dupuis, Stéphanie, Stenson, Peter D., Gleeson, Joseph G., Cooper, David Neil

, Quintana-Murci, Lluis, Claverie, Jean-Michel, Zhang, Shen-Ying, Abel, Laurent and Casanova, Jean-Laurent 2015. The human gene damage index as a gene-level approach to prioritizing exome variants. Proceedings of the National Academy of Sciences of the United States of America 112 (44) , pp. 13615-13620. 10.1073/pnas.1518646112

Kamat, Mihir Anant, Bacolla, Albino, Cooper, David Neil

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

Turner, Tychele N., Douville, Christopher, Kim, Dewey, Stenson, Peter Daniel, Cooper, David Neil

, Chakravarti, Aravinda and Karchin, Rachel 2015. Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns. Human Molecular Genetics 24 (21) , pp. 5995-6002. 10.1093/hmg/ddv309

Upadhyaya, Meena, Winston, Jincy, Radcliffe, E., Mort, Matthew, Dodd, Kayleigh, Tee, Andrew

, McDyer, F., Moore, S., Cooper, David Neil

and Thomas, L. 2015. Correlation of copy number changes and gene expression in neurofibromatosis1-associated malignant peripheral nerve sheath tumours [Abstract]. Pediatric Blood and Cancer 62 (S4) , S152-S152. 10.1002/pbc.25715

Douville, Christopher, Masica, David L., Stenson, Peter Daniel, Cooper, David Neil

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

Mayes, Mary B., Morgan, Taniesha, Winston, Jincy, Buxton, Daniel S., Kamat, Mihir Anant, Smith, Debbie, Williams, Maggie, Martin, Rebecca L., Kleinjan, Dirk A., Cooper, David Neil

, Upadhyaya, Meena and Chuzhanova, Nadia 2015. Remotely acting SMCHD1 gene regulatory elements: in silico prediction and identification of potential regulatory variants in patients with FSHD. Human Genomics 9 , 25. 10.1186/s40246-015-0047-x

The 1000 Genomes Project Consortium, Auton, Adam, Abecasis, Gonçalo R., Cooper, David N.

, Ball, Edward V. and Stenson, Peter D. 2015. A global reference for human genetic variation. Nature 526 , pp. 68-74. 10.1038/nature15393

Azevedo, Luisa, Serrano, Catarina, Amorim, Antonio and Cooper, David Neil

2015. Trans-species polymorphism in humans and the great apes is generally maintained by balancing selection that modulates the host immune response. Human Genomics 9 , 21. 10.1186/s40246-015-0043-1

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

2015. Complex multiple-nucleotide substitution mutations causing human inherited disease reveal novel insights into the action of translesion synthesis DNA polymerases. Human Mutation 36 (11) , pp. 1034-1038. 10.1002/humu.22831

Temiz, Nuri A., Donohue, Duncan E., Bacolla, Albino, Vasquez, Karen M., Cooper, David Neil

, Mudunuri, Uma, Ivanic, Joseph, Cer, Regina Z., Yi, Ming, Stephens, Robert M., Collins, Jack R. and Luke, Brian T. 2015. The somatic autosomal mutation matrix in cancer genomes. Human Genetics 134 (8) , pp. 851-864. 10.1007/s00439-015-1566-1

Su, Peiqiang, Wang, Ye, Cooper, David Neil

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

Temiz, Nuri A., Donohue, Duncan E., Bacolla, Albino, Vasquez, Karen M., Cooper, David

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

Siegert, Sabine, Wolf, Andreas, Cooper, David Neil

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

Karageorgos, Ioannis, Mizzi, Clint, Giannopoulou, Efstathia, Pavlidis, Cristiana, Peters, Brock A., Zagoriti, Zoi, Stenson, Peter Daniel, Mitropoulos, Konstantinos, Borg, Joseph, Kalofonos, Haralabos P., Drmanac, Radoje, Stubbs, Andrew, van der Spek, Peter, Cooper, David Neil

, Katsila, Theodora and Patrinos, George P. 2015. Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach. Human Genomics 9 , 12. 10.1186/s40246-015-0034-2

Johnston, Jennifer J., Lewis, Katie L., Ng, David, Singh, Larry N., Wynter, Jamila, Brewer, Carmen, Brooks, Brian P., Brownell, Isaac, Candotti, Fabio, Gonsalves, Steven G., Hart, Suzanne P., Kong, Heidi H., Rother, Kristina I., Sokolic, Robert, Solomon, Benjamin D., Zein, Wadih M., Cooper, David Neil

, Stenson, Peter Daniel, Mullikin, James C. and Biesecker, Leslie G. 2015. Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations. American Journal of Human Genetics 96 (6) , pp. 913-925. 10.1016/j.ajhg.2015.04.013

Wang, Ye, Su, Peiqiang, Hu, Bin, Zhu, Wenjuan, Li, Qibin, Yuan, Ping, Li, Jiangchao, Guan, Xinyuan, Li, Fucheng, Jing, Xiangyi, Li, Ru, Zhang, Yongling, Férec, Claude, Cooper, David Neil

, Wang, Jun, Huang, Dongsheng, Chen, Jian-Min and Wang, Yiming 2015. Characterization of 26 deletion CNVs reveals the frequent occurrence of micro-mutations within the breakpoint-flanking regions and frequent repair of double-strand breaks by templated insertions derived from remote genomic regions. Human Genetics 134 (6) , pp. 589-603. 10.1007/s00439-015-1539-4

Bacolla, A., Zhu, X., Chen, H., Howells, Katy, Cooper, David Neil

and Vasquez, K. M. 2015. Local DNA dynamics shape mutational patterns of mononucleotide repeats in human genomes. Nucleic Acids Research 43 (10) , pp. 5065-5080. 10.1093/nar/gkv364

Folkman, L., Yang, Y., Li, Z., Stantic, B., Sattar, A., Mort, Matthew, Cooper, David Neil

, Liu, Y. and Zhou, Y. 2015. DDIG-in: detecting disease-causing genetic variations due to frameshifting indels and nonsense mutations employing sequence and structural properties at nucleotide and protein levels. Bioinformatics 31 (10) , pp. 1599-1606. 10.1093/bioinformatics/btu862

Shihab, H. A., Rogers, M. F., Gough, J., Mort, Matthew, Cooper, David Neil

, Day, I. N. M., Gaunt, T. R. and Campbell, C. 2015. An integrative approach to predicting the functional effects of non-coding and coding sequence variation. Bioinformatics 31 (10) , pp. 1536-1543. 10.1093/bioinformatics/btv009

Rivas, Manuel A., Pirinen, Matti, Conrad, Donald F., Lek, Monkol, Tsang, Emily K., Karczewski, Konrad J., Maller, Julian B., Kukurba, Kimberly R., DeLuca, David S., Fromer, Menachem, Ferreira, Pedro G., Smith, Kevin S., Zhang, Rui, Zhao, Fengmei, Banks, Eric, Poplin, Ryan, Ruderfer, Douglas M., Purcell, Shaun M., Tukiainen, Taru, Minikel, Eric V., Stenson, Peter D., Cooper, David N.

, Huang, Katharine H., Sullivan, Timothy J., Nedzel, Jared, Bustamante, Carlos D., Li, Jin B., Daly, Mark J., Guigo, Roderic, Donnelly, Peter, Ardlie, Kristin, Sammeth, Michael, Dermitzakis, Emmanouil T., McCarthy, Mark I., Montgomery, Stephen B., Lappalainen, Tuuli and MacArthur, Daniel G. 2015. Effect of predicted protein-truncating genetic variants on the human transcriptome. Science 348 (6235) , pp. 666-669. 10.1126/science.1261877

Xue, Yali, Prado-Martinez, Javier, Sudmant, Peter H., Narasimhan, Vagheesh, Ayub, Qasim, Szpak, Michal, Frandsen, Peter, Chen, Yuan, Yngvadottir, Bryndis, Cooper, David N.

, de Manuel, Marc, Hernandez-Rodriguez, Jessica, Lobon, Irene, Siegismund, Hans R., Pagani, Luca, Quail, Michael A., Hvilsom, Christina, Mudakikwa, Antoine, Eichler, Evan E., Cranfield, Michael R., Marques-Bonet, Tomas, Tyler-Smith, Chris and Scally, Aylwyn 2015. Mountain gorilla genomes reveal the impact of long-term population decline and inbreeding. Science 348 (6231) , pp. 242-245. 10.1126/science.aaa3952

Grimm, Dominik G., Azencott, Chloé-Agathe, Aicheler, Fabian, Gieraths, Udo, MacArthur, Daniel G., Samocha, Kaitlin E., Cooper, David Neil

, Stenson, Peter Daniel, Daly, Mark J., Smoller, Jordan W., Duncan, Laramie E. and Borgwardt, Karsten M. 2015. The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity. Human Mutation 36 (5) , pp. 513-523. 10.1002/humu.22768

Poliakov, Eugenia, Cooper, David Neil

, Stepchenkova, Elena I. and Rogozin, Igor B. 2015. Genetics in genomic era. Genetics Research International 2015 , 364960. 10.1155/2015/364960

Ferri, Lorenzo, Donati, Maria A, Funghini, Silvia, Cavicchi, Catia, Pensato, Viviana, Gellera, Cinzia, Natacci, Federica, Spaccini, Luigina, Gasperini, Serena, Vaz, Frédéric M, Cooper, David Neil

, Guerrini, Renzo and Morrone, Amelia 2015. Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome. European Journal of Human Genetics 23 , pp. 1708-1712. 10.1038/ejhg.2015.50

Zhu, Wenjuan, Cooper, David Neil

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

Thomas, Laura E.

, Winston, Jincy, Rad, Ellie, Mort, Matthew, Dodd, Kayleigh M., Tee, Andrew

, McDyer, Fionnuala, Moore, Stephen, Cooper, David Neil

and Upadhyaya, Meena 2015. Evaluation of copy number variation and gene expression in neurofibromatosis type-1-associated malignant peripheral nerve sheath tumours. Human Genomics 9 (1) , 3. 10.1186/s40246-015-0025-3

Cooper, David Neil

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

Rogers, Mark F., Campbell, Colin, Shihab, Hashem A., Gaunt, Tom R., Mort, Matthew and Cooper, David Neil

2015. Sequential data selection for predicting the pathogenic effects of sequence variation. Presented at: 2015 IEEE International Conference on Bioinformatics and Biomedicine (BIBM), Washington DC, USA, 9-12 November 2015. Bioinformatics and Biomedicine (BIBM), 2015 IEEE International Conference on. IEEE, pp. 639-644. 10.1109/BIBM.2015.7359759

Wei, Xiaomu, Das, Jishnu, Fragoza, Robert, Liang, Jin, Bastos de Oliveira, Francisco M., Lee, Hao Ran, Wang, Xiujuan, Mort, Matthew, Stenson, Peter D., Cooper, David Neil

, Lipkin, Steven M., Smolka, Marcus B. and Yu, Haiyuan 2014. A massively parallel pipeline to clone DNA variants and examine molecular phenotypes of human disease mutations. PLoS Genetics 10 (12) , e1004819. 10.1371/journal.pgen.1004819

Kehrer-Sawatzki, Hildegard, Bengesser, Kathrin, Callens, Tom, Mikhail, Fady, Fu, Chuanhua, Hillmer, Morten, Walker, Martha E., Saal, Howard M., Lacassie, Yves, Cooper, David Neil

and Messiaen, Ludwine 2014. Identification of large NF1 duplications reciprocal to NAHR-mediated type-1 NF1 deletions. Human Mutation 35 (12) , pp. 1469-1475. 10.1002/humu.22692

Makrythanasis, Periklis, Nelis, Mari, Santoni, Federico A., Guipponi, Michel, Vannier, Anne, Béna, Frédérique, Gimelli, Stefania, Stathaki, Elisavet, Temtamy, Samia, Mégarbané, André, Masri, Amira, Aglan, Mona S., Zaki, Maha S., Bottani, Armand, Fokstuen, Siv, Gwanmesia, Lorraine, Aliferis, Konstantinos, Bustamante Eduardo, Mariana, Stamoulis, Georgios, Psoni, Stavroula, Kitsiou-Tzeli, Sofia, Fryssira, Helen, Kanavakis, Emmanouil, Al-Allawi, Nasir, Sefiani, Abdelaziz, Al Hait, Sana', Elalaoui, Siham C., Jalkh, Nadine, Al-Gazali, Lihadh, Al-Jasmi, Fatma, Bouhamed, Habiba Chaabouni, Abdalla, Ebtesam, Cooper, David Neil

, Hamamy, Hanan and Antonarakis, Stylianos E. 2014. Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families. Human Mutation 35 (10) , pp. 1203-1210. 10.1002/humu.22617

Chen, Yun-Ching, Douville, Christopher, Wang, Cheng, Niknafs, Noushin, Yeo, Grace, Beleva-Guthrie, Violeta, Carter, Hannah, Stenson, Peter Daniel, Cooper, David Neil

, Li, Biao, Mooney, Sean and Karchin, Rachel 2014. A probabilistic model to predict clinical phenotypic traits from genome sequencing. PLoS Computational Biology 10 (9) , e1003825. 10.1371/journal.pcbi.1003825

Potamias, George, Lakiotaki, Kleanthi, Katsila, Theodora, Lee, Ming Ta Michael, Topouzis, Stavros, Cooper, David Neil

and Patrinos, George P. 2014. Deciphering next-generation pharmacogenomics: an information technology perspective. Open Biology 4 (7) , 140071. 10.1098/rsob.140071

Shihab, Hashem A., Gough, Julian, Mort, Matthew Edwin, Cooper, David Neil

, Day, Ian N. M. and Gaunt, Tom R. 2014. Ranking non-synonymous single nucleotide polymorphisms based on disease concepts. Human Genomics 8 , 11. 10.1186/1479-7364-8-11

Vogt, Julia, Bengesser, Kathrin, Claes, Kathleen B. M., Wimmer, Katharina, Mautner, Victor-Felix, van Minkelen, Rick, Legius, Eric, Brems, Hilde, Upadhyaya, Meena, Hoegel, Josef, Lazaro, Conxi, Rosenbaum, Thorsten, Bammert, Simone, Messiaen, Ludwine, Cooper, David Neil

and Kehrer-Sawatzki, Hildegard 2014. SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints. Genome Biology 15 (6) , R80. 10.1186/gb-2014-15-6-r80

Zhang, Xinjun, Lin, Hai, Zhao, Huiying, Hao, Yangyang, Mort, Matthew, Cooper, David

, Zhou, Yaoqi and Liu, Yunlong 2014. Impact of human pathogenic micro-insertions and micro-deletions on post-transcriptional regulation. Human Molecular Genetics 23 (11) , pp. 3024-3034. 10.1093/hmg/ddu019

Kampourakis, Kostas, Vayena, Effy, Mitropoulou, Christina, van Schaik, Ron H., Cooper, David Neil

, Borg, Joseph and Patrinos, George P. 2014. Key challenges for next-generation pharmacogenomics. Embo Reports 15 (5) , pp. 472-476. 10.1002/embr.201438641

Das, Jishnu, Lee, Hao Ran, Sagar, Adithya, Fragoza, Robert, Liang, Jin, Wei, Xiaomu, Wang, Xiujuan, Mort, Matthew, Stenson, Peter, Cooper, David Neil

and Yu, Haiyuan 2014. Elucidating common structural features of human pathogenic variations using large-scale atomic-resolution protein networks. Human Mutation 35 (5) , pp. 585-593. 10.1002/humu.22534

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

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

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

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

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

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

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

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

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)

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

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)

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

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

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

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)

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

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

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. An integrated map of genetic variation from 1,092 human genomes. Nature 491 (7422) , pp. 56-65. 10.1038/nature11632

Cooper, David Neil

and Chen, Jian-Min, eds. 2012. Mutations in human genetic disease. Shanghai: InTech.

Vogt, Julia, Nguyen, Rosa, Kluwe, Lan, Schuhmann, Martin, Roehl, Angelika C, Mußotter, Tanja, Cooper, David Neil

, Mautner, Victor-Felix and Kehrer-Sawatzki, Hildegard 2011. Delineation of the clinical phenotype associated with non-mosaic type-2 NF1 deletions: two case reports. Journal of Medical Case Reports 5 (1) , 577. 10.1186/1752-1947-5-577

Yan, Guangmei, Zhang, Guojie, Fang, Xiaodong, Zhang, Yanfeng, Li, Cai, Ling, Fei, Cooper, David Neil

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

Naidoo, Nasheen, Pawitan, Yudi, Soong, Richie, Cooper, David Neil

and Ku, Chee-Seng 2011. Human genetics and genomics a decade after the release of the draft sequence of the human genome. Human Genomics 5 (6) , 577. 10.1186/1479-7364-5-6-577

Marth, Gabor T., Yu, Fuli, Indap, Amit R, Garimella, Kiran, Gravel, Simon, Leong, Wen, Tyler-Smith, Chris, Bainbridge, Matthew, Blackwell, Tom, Zheng-Bradley, Xiangqun, Chen, Yuan, Challis, Danny, Clarke, Laura, Ball, Edward V, Cibulskis, Kristian, Cooper, David Neil

, Fulton, Bob, Hartl, Chris, Koboldt, Dan, Muzny, Donna, Smith, Richard, Sougnez, Carrie, Stewart, Chip, Ward, Alistair, Yu, Jin, Xue, Yali, Altshuler, David, Bustamante, Carlos D., Clark, Andrew G., Daly, Mark, DePristo, Mark, Flicek, Paul, Gabriel, Stacey, Mardis, Elaine, Palotie, Aarno and Gibbs, Richard 2011. The functional spectrum of low-frequency coding variation. Genome Biology 12 (9) , R84. 10.1186/gb-2011-12-9-r84

Mai, Yuan, Koromila, Theodora, Sagia, Aggeliki, Cooper, David Neil

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

Cooper, David Neil

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

Sagia, Aggeliki, Cooper, David Neil

, Poulas, Konstantinos, Stathakopoulos, Vlassios and Patrinos, George P. 2011. Critical appraisal of the private genetic and pharmacogenomic testing environment in Greece. Personalized Medicine 8 (4) , pp. 413-420. 10.2217/pme.11.24

Zhang, Guojie, Pei, Zhang, Ball, Edward Vincent, Mort, Matthew Edwin, Cooper, David Neil

and Kehrer-Sawatzki, Hildegard 2011. Cross-comparison of the genome sequences from human, chimpanzee, Neanderthal and a Denisovan hominin identifies novel potentially compensated mutations. Human Genomics 5 (5) , pp. 453-484.

Ivanov, Dobril

, Hamby, Stephen E., Stenson, Peter Daniel, Phillips, Andrew David, Kehrer-Sawatzki, Hildegard, Cooper, David Neil

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

Chen, Jian-Min, Cooper, David Neil

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

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

and 1000 Genomes Project 2011. Mapping copy number variation by population-scale genome sequencing. Nature 470 (7332) , pp. 59-65. 10.1038/nature09708

Filocamo, Mirella, Cooper, David Neil

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

Cooper, David Neil

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

Hamby, S. E., Thomas, Nicholas Stuart Tudor, Cooper, David Neil

and Chuzhanova, Nadia 2011. A meta-analysis of single base-pair substitutions in translational termination codons ('nonstop' mutations) that cause human inherited disease. Human Genomics 5 (4) , pp. 241-264.

Laycock-Van spyk, Sebastian, Thomas, Nicholas Stuart Tudor, Cooper, David Neil

and Upadhyaya, Meena 2011. Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis. Human Genomics 5 (6) , pp. 623-690.

Necsulea, Anamaria, Popa, Alexandra, Cooper, David Neil

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

Messiaen, Ludwine, Vogt, Julia, Bengesser, Kathrin, Fu, Chuanhua, Mikhail, Fady, Serra, Eduard, Garcia-Linares, Carles, Cooper, David Neil

, Lazaro, Conxi and Kehrer-Sawatzki, Hildegard 2011. Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1). Human Mutation 32 (2) , pp. 213-219. 10.1002/humu.21418

Vogt, Julia, Kohlhase, Jürgen, Morlot, Susanne, Kluwe, Lan, Mautner, Victor-Felix, Cooper, David Neil

and Kehrer-Sawatzki, Hildegard 2011. Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutation. Human Mutation 32 (6) , E2134-E2147. 10.1002/humu.21476

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

and Parini, Rossella 2011. IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles. Human Mutation 32 (6) , E2189-E2210. 10.1002/humu.21479

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

Gravel, Simon, Henn, Brenna M., Gutenkunst, Ryan N., Indap, Amit R., Marth, Gabor T., Clark, Andrew G., Yu, Fuli, Gibbs, Richard A., Bustamante, Carlos D., Altshuler, D. L., Durbin, R. M., Abecasis, G. R., Bentley, D. R., Chakravarti, A., Clark, A. G., Collins, F. S., De La Vega, F. M., Donnelly, P., Egholm, M., Flicek, P., Gabriel, S. B., Gibbs, R. A., Knoppers, B. M., Lander, E. S., Lehrach, H., Mardis, E. R., McVean, G. A., Nickerson, D. A., Peltonen, L., Schafer, A. J., Sherry, S. T., Wang, J., Wilson, R. K., Gibbs, R. A., Deiros, D., Metzker, M., Muzny, D., Reid, J., Wheeler, D., Wang, J., Li, J., Jian, M., Li, G., Li, R., Liang, H., Tian, G., Wang, B., Wang, J., Wang, W., Yang, H., Zhang, X., Zheng, H., Lander, E. S., Altshuler, D. L., Ambrogio, L., Bloom, T., Cibulskis, K., Fennell, T. J., Gabriel, S. B., Jaffe, D. B., Shefler, E., Sougnez, C. L., Bentley, D. R., Gormley, N., Humphray, S., Kingsbury, Z., Koko-Gonzales, P., Stone, J., McKernan, K. J., Costa, G. L., Ichikawa, J. K., Lee, C. C., Sudbrak, R., Lehrach, H., Borodina, T. A., Dahl, A., Davydov, A. N., Marquardt, P., Mertes, F., Nietfeld, W., Rosenstiel, P., Schreiber, S., Soldatov, A. V., Timmermann, B., Tolzmann, M., Egholm, M., Affourtit, J., Ashworth, D., Attiya, S., Bachorski, M., Buglione, E., Burke, A., Caprio, A., Celone, C., Clark, S., Conners, D., Desany, B., Gu, L., Guccione, L., Kao, K., Kebbel, A., Knowlton, J., Labrecque, M., McDade, L., Mealmaker, C., Minderman, M., Nawrocki, A., Niazi, F., Pareja, K., Ramenani, R., Riches, D., Song, W., Turcotte, C., Wang, S., Mardis, E. R., Wilson, R. K., Dooling, D., Fulton, L., Fulton, R., Weinstock, G., Durbin, R. M., Burton, J., Carter, D. M., Churcher, C., Coffey, A., Cox, A., Palotie, A., Quail, M., Skelly, T., Stalker, J., Swerdlow, H. P., Turner, D., De Witte, A., Giles, S., Gibbs, R. A., Wheeler, D., Bainbridge, M., Challis, D., Sabo, A., Yu, F., Yu, J., Wang, J., Fang, X., Guo, X., Li, R., Li, Y., Luo, R., Tai, S., Wu, H., Zheng, H., Zheng, X., Zhou, Y., Li, G., Wang, J., Yang, H., Marth, G. T., Garrison, E. P., Huang, W., Indap, A., Kural, D., Lee, W.-P., Leong, W. F., Quinlan, A. R., Stewart, C., Stromberg, M. P., Ward, A. N., Wu, J., Lee, C., Mills, R. E., Shi, X., Daly, M. J., DePristo, M. A., Altshuler, D. L., Ball, A. D., Banks, E., Bloom, T., Browning, B. L., Cibulskis, K., Fennell, T. J., Garimella, K. V., Grossman, S. R., Handsaker, R. E., Hanna, M., Hartl, C., Jaffe, D. B., Kernytsky, A. M., Korn, J. M., Li, H., Maguire, J. R., McCarroll, S. A., McKenna, A., Nemesh, J. C., Philippakis, A. A., Poplin, R. E., Price, A., Rivas, M. A., Sabeti, P. C., Schaffner, S. F., Shefler, E., Shlyakhter, I. A., Cooper, David Neil

, Ball, E. V., Mort, M., Phillips, A. D., Stenson, P. D., Sebat, J., Makarov, V., Ye, K., Yoon, S. C., Bustamante, C. D., Clark, A. G., Boyko, A., Degenhardt, J., Gravel, S., Gutenkunst, R. N., Kaganovich, M., Keinan, A., Lacroute, P., Ma, X., Reynolds, A., Clarke, L., Flicek, P., Cunningham, F., Herrero, J., Keenen, S., Kulesha, E., Leinonen, R., McLaren, W. M., Radhakrishnan, R., Smith, R. E., Zalunin, V., Zheng-Bradley, X., Korbel, J. O., Stutz, A. M., Humphray, S., Bauer, M., Cheetham, R. K., Cox, T., Eberle, M., James, T., Kahn, S., Murray, L., Chakravarti, A., Ye, K., De La Vega, F. M., Fu, Y., Hyland, F. C. L., Manning, J. M., McLaughlin, S. F., Peckham, H. E., Sakarya, O., Sun, Y. A., Tsung, E. F., Batzer, M. A., Konkel, M. K., Walker, J. A., Sudbrak, R., Albrecht, M. W., Amstislavskiy, V. S., Herwig, R., Parkhomchuk, D. V., Sherry, S. T., Agarwala, R., Khouri, H. M., Morgulis, A. O., Paschall, J. E., Phan, L. D., Rotmistrovsky, K. E., Sanders, R. D., Shumway, M. F., Xiao, C., McVean, G. A., Auton, A., Iqbal, Z., Lunter, G., Marchini, J. L., Moutsianas, L., Myers, S., Tumian, A., Desany, B., Knight, J., Winer, R., Craig, D. W., Beckstrom-Sternberg, S. M., Christoforides, A., Kurdoglu, A. A., Pearson, J. V., Sinari, S. A., Tembe, W. D., Haussler, D., Hinrichs, A. S., Katzman, S. J., Kern, A., Kuhn, R. M., Przeworski, M., Hernandez, R. D., Howie, B., Kelley, J. L., Melton, S. C., Abecasis, G. R., Li, Y., Anderson, P., Blackwell, T., Chen, W., Cookson, W. O., Ding, J., Kang, H. M., Lathrop, M., Liang, L., Moffatt, M. F., Scheet, P., Sidore, C., Snyder, M., Zhan, X., Zollner, S., Awadalla, P., Casals, F., Idaghdour, Y., Keebler, J., Stone, E. A., Zilversmit, M., Jorde, L., Xing, J., Eichler, E. E., Aksay, G., Alkan, C., Hajirasouliha, I., Hormozdiari, F., Kidd, J. M., Sahinalp, S. C., Sudmant, P. H., Mardis, E. R., Chen, K., Chinwalla, A., Ding, L., Koboldt, D. C., McLellan, M. D., Dooling, D., Weinstock, G., Wallis, J. W., Wendl, M. C., Zhang, Q., Durbin, R. M., Albers, C. A., Ayub, Q., Balasubramaniam, S., Barrett, J. C., Carter, D. M., Chen, Y., Conrad, D. F., Danecek, P., Dermitzakis, E. T., Hu, M., Huang, N., Hurles, M. E., Jin, H., Jostins, L., Keane, T. M., Le, S. Q., Lindsay, S., Long, Q., MacArthur, D. G., Montgomery, S. B., Parts, L., Stalker, J., Tyler-Smith, C., Walter, K., Zhang, Y., Gerstein, M. B., Snyder, M., Abyzov, A., Balasubramanian, S., Bjornson, R., Du, J., Grubert, F., Habegger, L., Haraksingh, R., Jee, J., Khurana, E., Lam, H. Y. K., Leng, J., Mu, X. J., Urban, A. E., Zhang, Z., Li, Y., Luo, R., Marth, G. T., Garrison, E. P., Kural, D., Quinlan, A. R., Stewart, C., Stromberg, M. P., Ward, A. N., Wu, J., Lee, C., Mills, R. E., Shi, X., McCarroll, S. A., Banks, E., DePristo, M. A., Handsaker, R. E., Hartl, C., Korn, J. M., Li, H., Nemesh, J. C., Sebat, J., Makarov, V., Ye, K., Yoon, S. C., Degenhardt, J., Kaganovich, M., Clarke, L., Smith, R. E., Zheng-Bradley, X., Korbel, J. O., Humphray, S., Cheetham, R. K., Eberle, M., Kahn, S., Murray, L., Ye, K., De La Vega, F. M., Fu, Y., Peckham, H. E., Sun, Y. A., Batzer, M. A., Konkel, M. K., Walker, J. A., Xiao, C., Iqbal, Z., Desany, B., Blackwell, T., Snyder, M., Xing, J., Eichler, E. E., Aksay, G., Alkan, C., Hajirasouliha, I., Hormozdiari, F., Kidd, J. M., Chen, K., Chinwalla, A., Ding, L., McLellan, M. D., Wallis, J. W., Hurles, M. E., Conrad, D. F., Walter, K., Zhang, Y., Gerstein, M. B., Snyder, M., Abyzov, A., Du, J., Grubert, F., Haraksingh, R., Jee, J., Khurana, E., Lam, H. Y. K., Leng, J., Mu, X. J., Urban, A. E., Zhang, Z., Gibbs, R. A., Bainbridge, M., Challis, D., Coafra, C., Dinh, H., Kovar, C., Lee, S., Muzny, D., Nazareth, L., Reid, J., Sabo, A., Yu, F., Yu, J., Marth, G. T., Garrison, E. P., Indap, A., Leong, W. F., Quinlan, A. R., Stewart, C., Ward, A. N., Wu, J., Cibulskis, K., Fennell, T. J., Gabriel, S. B., Garimella, K. V., Hartl, C., Shefler, E., Sougnez, C. L., Wilkinson, J., Clark, A. G., Gravel, S., Grubert, F., Clarke, L., Flicek, P., Smith, R. E., Zheng-Bradley, X., Sherry, S. T., Khouri, H. M., Paschall, J. E., Shumway, M. F., Xiao, C., McVean, G. A., Katzman, S. J., Abecasis, G. R., Blackwell, T., Mardis, E. R., Dooling, D., Fulton, L., Fulton, R., Koboldt, D. C., Durbin, R. M., Balasubramaniam, S., Coffey, A., Keane, T. M., MacArthur, D. G., Palotie, A., Scott, C., Stalker, J., Tyler-Smith, C., Gerstein, M. B., Balasubramanian, S., Chakravarti, A., Knoppers, B. M., Abecasis, G. R., Bustamante, C. D., Gharani, N., Gibbs, R. A., Jorde, L., Kaye, J. S., Kent, A., Li, T., McGuire, A. L., McVean, G. A., Ossorio, P. N., Rotimi, C. N., Su, Y., Toji, L. H., TylerSmith, C., Brooks, L. D., Felsenfeld, A. L., McEwen, J. E., Abdallah, A., Juenger, C. R., Clemm, N. C., Collins, F. S., Duncanson, A., Green, E. D., Guyer, M. S., Peterson, J. L., Schafer, A. J., Abecasis, G. R., Altshuler, D. L., Auton, A., Brooks, L. D., Durbin, R. M., Gibbs, R. A., Hurles, M. E. and McVean, G. A. 2011. Demographic history and rare allele sharing among human populations. Proceedings of the National Academy of Sciences of the United States of America 108 (29) , pp. 11983-11988. 10.1073/pnas.1019276108

Bacolla, A., Wang, G., Jain, A., Chuzhanova, N. A., Cer, R. Z., Collins, J. R., Cooper, David Neil

, Bohr, V. A. and Vasquez, K. M. 2011. Non-B DNA-forming Sequences and WRN Deficiency Independently Increase the Frequency of Base Substitution in Human Cells. Journal of Biological Chemistry 286 (12) , pp. 10017-10026. 10.1074/jbc.M110.176636

Sterne-Weiler, T., Howard, J., Mort, Matthew, Cooper, David Neil

and Sanford, J. R. 2011. Loss of exon identity is a common mechanism of human inherited disease. Genome Research 21 (10) , pp. 1563-1571. 10.1101/gr.118638.110

Boulling, Arnaud, Witt, Heiko, Chandak, Giriraj Ratan, Masson, Emmanuelle, Paliwal, Sumit, Bhaskar, Seema, Reddy, D. Nageshwar, Cooper, David Neil

, Chen, Jian-Min and Férec, Claude 2011. Assessing the pathological relevance of SPINK1 promoter variants. European Journal of Human Genetics 19 (10) , pp. 1066-1073. 10.1038/ejhg.2011.79

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

Sudmant, P. H., Kitzman, J. O., Antonacci, F., Alkan, C., Malig, M., Tsalenko, A., Sampas, N., Bruhn, L., Shendure, J., Eichler, E. E., Cooper, David Neil

and 1000 Genomes Project 2010. Diversity of human copy number variation and multicopy genes. Science 330 (6004) , pp. 641-646. 10.1126/science.1197005

Durbin, Richard M., Altshuler, David L., Durbin, Richard M., Abecasis, Gonçalo R., Bentley, David R., Chakravarti, Aravinda, Clark, Andrew G., Collins, Francis S., De La Vega, Francisco M., Donnelly, Peter, Egholm, Michael, Flicek, Paul, Gabriel, Stacey B., Gibbs, Richard A., Knoppers, Bartha M., Lander, Eric S., Lehrach, Hans, Mardis, Elaine R., McVean, Gil A., Nickerson, Debbie A., Peltonen, Leena, Schafer, Alan J., Sherry, Stephen T., Wang, Jun, Wilson, Richard K., Gibbs, Richard A., Deiros, David, Metzker, Mike, Muzny, Donna, Reid, Jeff, Wheeler, David, Wang, Jun, Li, Jingxiang, Jian, Min, Li, Guoqing, Li, Ruiqiang, Liang, Huiqing, Tian, Geng, Wang, Bo, Wang, Jian, Wang, Wei, Yang, Huanming, Zhang, Xiuqing, Zheng, Huisong, Lander, Eric S., Altshuler, David L., Ambrogio, Lauren, Bloom, Toby, Cibulskis, Kristian, Fennell, Tim J., Gabriel, Stacey B., Jaffe, David B., Shefler, Erica, Sougnez, Carrie L., Bentley, David R., Gormley, Niall, Humphray, Sean, Kingsbury, Zoya, Koko-Gonzales, Paula, Stone, Jennifer, McKernan, Kevin J., Costa, Gina L., Ichikawa, Jeffry K., Lee, Clarence C., Sudbrak, Ralf, Lehrach, Hans, Borodina, Tatiana A., Dahl, Andreas, Davydov, Alexey N., Marquardt, Peter, Mertes, Florian, Nietfeld, Wilfiried, Rosenstiel, Philip, Schreiber, Stefan, Soldatov, Aleksey V., Timmermann, Bernd, Tolzmann, Marius, Egholm, Michael, Affourtit, Jason, Ashworth, Dana, Attiya, Said, Bachorski, Melissa, Buglione, Eli, Burke, Adam, Caprio, Amanda, Celone, Christopher, Clark, Shauna, Conners, David, Desany, Brian, Gu, Lisa, Guccione, Lorri, Kao, Kalvin, Kebbel, Andrew, Knowlton, Jennifer, Labrecque, Matthew, McDade, Louise, Mealmaker, Craig, Minderman, Melissa, Nawrocki, Anne, Niazi, Faheem, Pareja, Kristen, Ramenani, Ravi, Riches, David, Song, Wanmin, Turcotte, Cynthia, Wang, Shally, Mardis, Elaine R., Wilson, Richard K., Dooling, David, Fulton, Lucinda, Fulton, Robert, Weinstock, George, Durbin, Richard M., Burton, John, Carter, David M., Churcher, Carol, Coffey, Alison, Cox, Anthony, Palotie, Aarno, Quail, Michael, Skelly, Tom, Stalker, James, Swerdlow, Harold P., Turner, Daniel, De Witte, Anniek, Giles, Shane, Gibbs, Richard A., Wheeler, David, Bainbridge, Matthew, Challis, Danny, Sabo, Aniko, Yu, Fuli, Yu, Jin, Wang, Jun, Fang, Xiaodong, Guo, Xiaosen, Li, Ruiqiang, Li, Yingrui, Luo, Ruibang, Tai, Shuaishuai, Wu, Honglong, Zheng, Hancheng, Zheng, Xiaole, Zhou, Yan, Li, Guoqing, Wang, Jian, Yang, Huanming, Marth, Gabor T., Garrison, Erik P., Huang, Weichun, Indap, Amit, Kural, Deniz, Lee, Wan-Ping, Fung Leong, Wen, Quinlan, Aaron R., Stewart, Chip, Stromberg, Michael P., Ward, Alistair N., Wu, Jiantao, Lee, Charles, Mills, Ryan E., Shi, Xinghua, Daly, Mark J., DePristo, Mark A., Altshuler, David L., Ball, Aaron D., Banks, Eric, Bloom, Toby, Browning, Brian L., Cibulskis, Kristian, Fennell, Tim J., Garimella, Kiran V., Grossman, Sharon R., Handsaker, Robert E., Hanna, Matt, Hartl, Chris, Jaffe, David B., Kernytsky, Andrew M., Korn, Joshua M., Li, Heng, Maguire, Jared R., McCarroll, Steven A., McKenna, Aaron, Nemesh, James C., Philippakis, Anthony A., Poplin, Ryan E., Price, Alkes, Rivas, Manuel A., Sabeti, Pardis C., Schaffner, Stephen F., Shefler, Erica, Shlyakhter, Ilya A., Cooper, David Neil

, Ball, Edward Vincent, Mort, Matthew Edwin, Phillips, Andrew David, Stenson, Peter Daniel, Sebat, Jonathan, Makarov, Vladimir, Ye, Kenny, Yoon, Seungtai C., Bustamante, Carlos D., Clark, Andrew G., Boyko, Adam, Degenhardt, Jeremiah, Gravel, Simon, Gutenkunst, Ryan N., Kaganovich, Mark, Keinan, Alon, Lacroute, Phil, Ma, Xin, Reynolds, Andy, Clarke, Laura, Flicek, Paul, Cunningham, Fiona, Herrero, Javier, Keenen, Stephen, Kulesha, Eugene, Leinonen, Rasko, McLaren, William M., Radhakrishnan, Rajesh, Smith, Richard E., Zalunin, Vadim, Zheng-Bradley, Xiangqun, Korbel, Jan O., Stütz, Adrian M., Humphray, Sean, Bauer, Markus, Keira Cheetham, R., Cox, Tony, Eberle, Michael, James, Terena, Kahn, Scott, Murray, Lisa, Chakravarti, Aravinda, Ye, Kai, De La Vega, Francisco M., Fu, Yutao, Hyland, Fiona C. L., Manning, Jonathan M., McLaughlin, Stephen F., Peckham, Heather E., Sakarya, Onur, Sun, Yongming A., Tsung, Eric F., Batzer, Mark A., Konkel, Miriam K., Walker, Jerilyn A., Sudbrak, Ralf, Albrecht, Marcus W., Amstislavskiy, Vyacheslav S., Herwig, Ralf, Parkhomchuk, Dimitri V., Sherry, Stephen T., Agarwala, Richa, Khouri, Hoda M., Morgulis, Aleksandr O., Paschall, Justin E., Phan, Lon D., Rotmistrovsky, Kirill E., Sanders, Robert D., Shumway, Martin F., Xiao, Chunlin, McVean, Gil A., Auton, Adam, Iqbal, Zamin, Lunter, Gerton, Marchini, Jonathan L., Moutsianas, Loukas, Myers, Simon, Tumian, Afidalina, Desany, Brian, Knight, James, Winer, Roger, Craig, David W., Beckstrom-Sternberg, Steve M., Christoforides, Alexis, Kurdoglu, Ahmet A., Pearson, John V., Sinari, Shripad A., Tembe, Waibhav D., Haussler, David, Hinrichs, Angie S., Katzman, Sol J., Kern, Andrew, Kuhn, Robert M., Przeworski, Molly, Hernandez, Ryan D., Howie, Bryan, Kelley, Joanna L., Cord Melton, S., Abecasis, Gonçalo R., Li, Yun, Anderson, Paul, Blackwell, Tom, Chen, Wei, Cookson, William O., Ding, Jun, Min Kang, Hyun, Lathrop, Mark, Liang, Liming, Moffatt, Miriam F., Scheet, Paul, Sidore, Carlo, Snyder, Matthew, Zhan, Xiaowei, Zöllner, Sebastian, Awadalla, Philip, Casals, Ferran, Idaghdour, Youssef, Keebler, John, Stone, Eric A., Zilversmit, Martine, Jorde, Lynn, Xing, Jinchuan, Eichler, Evan E., Aksay, Gozde, Alkan, Can, Hajirasouliha, Iman, Hormozdiari, Fereydoun, Kidd, Jeffrey M., Cenk Sahinalp, S., Sudmant, Peter H., Mardis, Elaine R., Chen, Ken, Chinwalla, Asif, Ding, Li, Koboldt, Daniel C., McLellan, Mike D., Dooling, David, Weinstock, George, Wallis, John W., Wendl, Michael C., Zhang, Qunyuan, Durbin, Richard M., Albers, Cornelis A., Ayub, Qasim, Balasubramaniam, Senduran, Barrett, Jeffrey C., Carter, David M., Chen, Yuan, Conrad, Donald F., Danecek, Petr, Dermitzakis, Emmanouil T., Hu, Min, Huang, Ni, Hurles, Matt E., Jin, Hanjun, Jostins, Luke, Keane, Thomas M., Quang Le, Si, Lindsay, Sarah, Long, Quan, MacArthur, Daniel G., Montgomery, Stephen B., Parts, Leopold, Stalker, James, Tyler-Smith, Chris, Walter, Klaudia, Zhang, Yujun, Gerstein, Mark B., Snyder, Michael, Abyzov, Alexej, Balasubramanian, Suganthi, Bjornson, Robert, Du, Jiang, Grubert, Fabian, Habegger, Lukas, Haraksingh, Rajini, Jee, Justin, Khurana, Ekta, Lam, Hugo Y. K., Leng, Jing, Jasmine Mu, Xinmeng, Urban, Alexander E., Zhang, Zhengdong, Li, Yingrui, Luo, Ruibang, Marth, Gabor T., Garrison, Erik P., Kural, Deniz, Quinlan, Aaron R., Stewart, Chip, Stromberg, Michael P., Ward, Alistair N., Wu, Jiantao, Lee, Charles, Mills, Ryan E., Shi, Xinghua, McCarroll, Steven A., Banks, Eric, DePristo, Mark A., Handsaker, Robert E., Hartl, Chris, Korn, Joshua M., Li, Heng, Nemesh, James C., Sebat, Jonathan, Makarov, Vladimir, Ye, Kenny, Yoon, Seungtai C., Degenhardt, Jeremiah, Kaganovich, Mark, Clarke, Laura, Smith, Richard E., Zheng-Bradley, Xiangqun, Korbel, Jan O., Humphray, Sean, Keira Cheetham, R., Eberle, Michael, Kahn, Scott, Murray, Lisa, Ye, Kai, De La Vega, Francisco M., Fu, Yutao, Peckham, Heather E., Sun, Yongming A., Batzer, Mark A., Konkel, Miriam K., Walker, Jerilyn A., Xiao, Chunlin, Iqbal, Zamin, Desany, Brian, Blackwell, Tom, Snyder, Matthew, Xing, Jinchuan, Eichler, Evan E., Aksay, Gozde, Alkan, Can, Hajirasouliha, Iman, Hormozdiari, Fereydoun, Kidd, Jeffrey M., Chen, Ken, Chinwalla, Asif, Ding, Li, McLellan, Mike D., Wallis, John W., Hurles, Matt E., Conrad, Donald F., Walter, Klaudia, Zhang, Yujun, Gerstein, Mark B., Snyder, Michael, Abyzov, Alexej, Du, Jiang, Grubert, Fabian, Haraksingh, Rajini, Jee, Justin, Khurana, Ekta, Lam, Hugo Y. K., Leng, Jing, Jasmine Mu, Xinmeng, Urban, Alexander E., Zhang, Zhengdong, Gibbs, Richard A., Bainbridge, Matthew, Challis, Danny, Coafra, Cristian, Dinh, Huyen, Kovar, Christie, Lee, Sandy, Muzny, Donna, Nazareth, Lynne, Reid, Jeff, Sabo, Aniko, Yu, Fuli, Yu, Jin, Marth, Gabor T., Garrison, Erik P., Indap, Amit, Fung Leong, Wen, Quinlan, Aaron R., Stewart, Chip, Ward, Alistair N., Wu, Jiantao, Cibulskis, Kristian, Fennell, Tim J., Gabriel, Stacey B., Garimella, Kiran V., Hartl, Chris, Shefler, Erica, Sougnez, Carrie L., Wilkinson, Jane, Clark, Andrew G., Gravel, Simon, Grubert, Fabian, Clarke, Laura, Flicek, Paul, Smith, Richard E., Zheng-Bradley, Xiangqun, Sherry, Stephen T., Khouri, Hoda M., Paschall, Justin E., Shumway, Martin F., Xiao, Chunlin, McVean, Gil A., Katzman, Sol J., Abecasis, Gonçalo R., Blackwell, Tom, Mardis, Elaine R., Dooling, David, Fulton, Lucinda, Fulton, Robert, Koboldt, Daniel C., Durbin, Richard M., Balasubramaniam, Senduran, Coffey, Allison, Keane, Thomas M., MacArthur, Daniel G., Palotie, Aarno, Scott, Carol, Stalker, James, Tyler-Smith, Chris, Gerstein, Mark B., Balasubramanian, Suganthi, Chakravarti, Aravinda, Knoppers, Bartha M., Abecasis, Gonçalo R., Bustamante, Carlos D., Gharani, Neda, Gibbs, Richard A., Jorde, Lynn, Kaye, Jane S., Kent, Alastair, Li, Taosha, McGuire, Amy L., McVean, Gil A., Ossorio, Pilar N., Rotimi, Charles N., Su, Yeyang, Toji, Lorraine H., Tyler-Smith, Chris, Brooks, Lisa D., Felsenfeld, Adam L., McEwen, Jean E., Abdallah, Assya, Juenger, Christopher R., Clemm, Nicholas C., Collins, Francis S., Duncanson, Audrey, Green, Eric D., Guyer, Mark S., Peterson, Jane L., Schafer, Alan J., Abecasis, Gonçalo R., Altshuler, David L., Auton, Adam, Brooks, Lisa D., Durbin, Richard M., Gibbs, Richard A., Hurles, Matt E. and McVean, Gil A. 2010. A map of human genome variation from population-scale sequencing. Nature 467 (7319) , pp. 1061-1073. 10.1038/nature09534

Bacolla, A., Cooper, David N

and Vasquez, K. M. 2010. Non-B DNA structure and mutations causing human genetic disease. eLS, John Wiley & Sons, (10.1002/9780470015902.a0022657)

Krawczak, Michael, Goebel, Jürgen W and Cooper, David Neil

2010. Is the NIH policy for sharing GWAS data running the risk of being counterproductive? Investigative Genetics 1 (1) , p. 3. 10.1186/2041-2223-1-3

Cooper, David Neil

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

Millar, David Stuart, 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.

Cooper, David Neil

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

Stenson, Peter Daniel and Cooper, David Neil

2010. Prospects for the automated extraction of mutation data from the scientific literature [Editorial]. Human Genomics 5 (1) , pp. 1-4.

Roehl, Angelika C., Cooper, David Neil

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

Mort, Matthew Edwin, Evani, Uday S., Krishnan, Vidhya G., Kamati, Kishore K., Baenziger, Peter H., Bagchi, Angshuman, Peters, Brandon J., Sathyesh, Rakesh, Li, Biao, Sun, Yanan, Xue, Bin, Shah, Nigam H., Kann, Maricel G., Cooper, David Neil

, Radivojac, Predrag and Mooney, Sean D. 2010. In silico functional profiling of human disease-associated and polymorphic amino acid substitutions. Human Mutation 31 (3) , pp. 335-346. 10.1002/humu.21192

Quemener, Sylvia, Chen, Jian-Min, Chuzhanova, Nadia, Bénech, Caroline, Casals, Teresa, Macek, Milan, Bienvenu, Thierry, McDevitt, Trudi, Farrell, Philip M., Loumi, Ourida, Messaoud, Taieb, Cuppens, Harry, Cutting, Garry R., Stenson, Peter Daniel, Giteau, Karine, Audrézet, Marie-Pierre, Cooper, David Neil

and Férec, Claude 2010. Complete ascertainment of intragenic copy number mutations (CNMs) in theCFTRgene and its implications for CNM formation at other autosomal loci. Human Mutation 31 (4) , pp. 421-428. 10.1002/humu.21196

Lualdi, Susanna, Tappino, Barbara, Di Duca, Marco, Dardis, Andrea, Anderson, Christopher J., Biassoni, Roberto, Thompson, Peter W., Corsolini, Fabio, Di Rocco, Maja, Bembi, Bruno, Regis, Stefano, Cooper, David Neil

and Filocamo, Mirella 2010. Enigmatic In Vivo iduronate-2-sulfatase (IDS) mutant transcript correction to wild-type in Hunter syndrome. Human Mutation 31 (4) , E1261-E1285. 10.1002/humu.21208

Bengesser, Kathrin, Cooper, David Neil

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

Cooper, David Neil

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

Roehl, Angelika C., Vogt, Julia, Mussotter, Tanja, Zickler, Antje N., Spöti, Helene, Högel, Josef, Chuzhanova, Nadia A., Wimmer, Katharina, Kluwe, Lan, Mautner, Victor-Felix, Cooper, David Neil

and Kehrer-Sawatzki, Hildegard 2010. Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions. Human Mutation 31 (10) , pp. 1163-1173. 10.1002/humu.21340

Tappino, Barbara, Biancheri, Roberta, Mort, Matthew Edwin, Regis, Stefano, Corsolini, Fabio, Rossi, Andrea, Stroppiano, Marina, Lualdi, Susanna, Fiumara, Agata, Bembi, Bruno, Di Rocco, Maja, Cooper, David Neil

and Filocamo, Mirella 2010. Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease. Human Mutation 31 (12) , E1894-E1914. 10.1002/humu.21367

Zhang, Guojie, Pei, Zhang, Krawczak, Michael, Ball, Edward Vincent, Mort, Matthew Edwin, Kehrer-Sawatzki, Hildegard and Cooper, David Neil

2010. Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations. Human Mutation 31 (12) , pp. 1286-1293. 10.1002/humu.21389

Pagon, Roberta A., Hamosh, Ada, den Dunnen, Johan, Firth, Helen V., Maglott, Donna R., Sherry, Stephen T., Feolo, Michael, Cooper, David Neil

and Stenson, Peter Daniel 2010. Databases in human and medical genetics. Speicher, Michael R., Antonarakis, Stylianos E. and Motulsky, Arno G., eds. Vogel and Motulsky's Human Genetics: Problems and Approaches. 4th ed., London: Springer, pp. 941-961.

Antonarakis, Stylianos E. and Cooper, David Neil

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

Cooper, David Neil

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

Cooper, David Neil

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

Chen, Jian-Min, Cooper, David Neil

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

Xin, F., Myers, S., Li, Y. F., Cooper, David Neil

, Mooney, S. D. and Radivojac, P. 2010. Structure-based kernels for the prediction of catalytic residues and their involvement in human inherited disease. Bioinformatics 26 (16) , pp. 1975-1982. 10.1093/bioinformatics/btq319

Chen, J. M., Férec, C. and Cooper, David Neil

2010. Revealing the human mutome. Clinical Genetics 78 (4) , pp. 310-320. 10.1111/j.1399-0004.2010.01474.x

Mautner, V. F., Kluwe, L., Friedrich, R. E., Roehl, A. C., Bammert, S., Hogel, J., Spori, H., Cooper, David Neil

and Kehrer-Sawatzki, H. 2010. Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions. Journal of Medical Genetics 47 (9) , pp. 623-630. 10.1136/jmg.2009.075937

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

2010. Gene conversion in human genetic disease. Genes 1 (3) , pp. 550-563. 10.3390/genes1030550

Clarke, Angus John

and Cooper, David Neil

2010. GWAS: heritability missing in action? European Journal of Human Genetics 18 (8) , pp. 859-861. 10.1038/ejhg.2010.35

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

and Krawczak, Michael 2010. Legal and ethical consequences of international biobanking from a national perspective: the German BMB-EUCoop project. European Journal of Human Genetics 18 (5) , pp. 522-525. 10.1038/ejhg.2009.214

Stenson, Peter Daniel, Ball, Edward Vincent, Howells, Katy, Phillips, Andrew David, Mort, Matthew Edwin and Cooper, David Neil

2009. The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics [Editorial]. Human Genomics 4 (2) , pp. 69-72.

Tappino, Barbara, Chuzhanova, Nadia A., Regis, Stefano, Dardis, Andrea, Corsolini, Fabio, Stroppiano, Marina, Tonoli, Emmanuel, Beccari, Tommaso, Rosano, Camillo, Mucha, Jan, Blanco, Mariana, Szlago, Marina, Di Rocco, Maja, Cooper, David Neil

and Filocamo, Mirella 2009. Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase α- and β-subunit (GNPTAB) gene mutations causing mucolipidosis types IIα/β and IIIα/β in 46 patients. Human Mutation 30 (11) , E956-E973. 10.1002/humu.21099

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

2009. Closely spaced multiple mutations as potential signatures of transient hypermutability in human genes. Human Mutation 30 (10) , pp. 1435-1448. 10.1002/humu.21088

Chen, Jian-Min, Cooper, David Neil

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

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

2009. Gene conversion causing human inherited disease: evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repair. Human Mutation 30 (8) , pp. 1189-1198. 10.1002/humu.21020

Persichetti, Emanuele, Chuzhanova, Nadia, Dardis, Andrea, Tappino, Barbara, Pohl, Sandra, Thomas, Nicholas Stuart Tudor, Rosano, Camillo, Balducci, Chiara, Paciotti, Silvia, Dominissini, Silvia, Montalvo, Anna Lisa, Sibilio, Michela, Parini, Rossella, Rigoldi, Miriam, Di Rocco, Maja, Parenti, Giancarlo, Orlacchio, Aldo, Bembi, Bruno, Cooper, David Neil

, Filocamo, Mirella and Beccari, Tommaso 2009. Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma. Human Mutation 30 (6) , pp. 978-984. 10.1002/humu.20959

Kehrer-Sawatzki, Hildegard and Cooper, David Neil

2009. Preface. Cytogenetic and Genome Research 123 (1-4) , pp. 5-6. 10.1159/000184686

Wolf, Andreas, Millar, David Stuart, Caliebe, Amke, Horan, Martin Patrick, Newsway, Victoria Elizabeth, Kumpf, Dorothea, Steinmann, Katharina, Chee, Ik-Seung, Lee, Young-Ho, Mutirangura, Apiwat, Pepe, Guglielmina, Rickards, Olga, Schmidtke, Jörg, Schempp, Werner, Chuzhanova, Nadia, Kehrer-Sawatzki, Hildegard, Krawczak, Michael and Cooper, David Neil

2009. A gene conversion hotspot in the human growth hormone (GH1) gene promoter. Human Mutation 30 (2) , pp. 239-247. 10.1002/humu.20850

Stenson, Peter Daniel, Mort, Matthew, Ball, Edward, Howells, Katy, Phillips, Andrew David, Thomas, Nick and Cooper, David Neil

2009. The Human Gene Mutation Database: 2008 update. Genome Medicine 1 (1) , 13. 10.1186/gm13

Hudson, Thomas J. and Cooper, David Neil

2009. STREGA: a 'How-To' guide for reporting genetic associations [Editorial]. Human Genetics 125 (2) , pp. 117-118. 10.1007/s00439-009-0624-y

Kehrer-Sawatzki, Hildegard and Cooper, David Neil

, eds. 2009. Copy number variation and disease. London: Karger.

Zheng, Yixian, Tickle, Cheryl, Jansson, Roland, Kehrer-Sawatzki, Hildegard, Cooper, David Neil

, Delves, Peter, Melino, Gerry, Battista, John, Levitan, L., Roberts, K., Bynum, William F., Valpuesta, Jose M. and Harper, David, eds. 2009. Encyclopedia of life sciences. John Wiley.

Li, B., Krishnan, V. G., Mort, Matthew Edwin, Xin, F., Kamati, K. K., Cooper, David Neil

, Mooney, S. D. and Radivojac, P. 2009. Automated inference of molecular mechanisms of disease from amino acid substitutions. Bioinformatics 25 (21) , pp. 2744-2750. 10.1093/bioinformatics/btp528

Chauvin, A., Chen, J.-M., Quemener, S., Masson, E., Kehrer-Sawatzki, Hildegard, Ohmle, B., Cooper, David Neil

, Le Marechal, C. and Ferec, C. 2009. Elucidation of the complex structure and origin of the human trypsinogen locus triplication. Human Molecular Genetics 18 (19) , pp. 3605-3614. 10.1093/hmg/ddp308

Sanford, J. R., Wang, X., Mort, Matthew Edwin, VanDuyn, N., Cooper, David Neil

, Mooney, S. D., Edenberg, H. J. and Liu, Y. 2009. Splicing factor SFRS1 recognizes a functionally diverse landscape of RNA transcripts. Genome Research 19 (3) , pp. 381-394. 10.1101/gr.082503.108

Steinmann, Katharina, Kluwe, Lan, Friedrich, Reinhard E., Mautner, Victor-Felix, Cooper, David Neil

and Kehrer-Sawatzki, Hildegard 2009. Mechanisms of loss of heterozygosity in neurofibromatosis type 1-associated plexiform neurofibromas. Journal of Investigative Dermatology 129 (3) , pp. 615-621. 10.1038/jid.2008.274

Kolb, Jessica, Chuzhanova, Nadia A., Högel, Josef, Vasquez, Karen M., Cooper, David Neil

, Bacolla, Albino and Kehrer-Sawatzki, Hildegard 2009. Cruciform-forming inverted repeats appear to have mediated many of the microinversions that distinguish the human and chimpanzee genomes. Chromosome Research 17 (4) , pp. 469-483. 10.1007/s10577-009-9039-9

Kemkemer, Claus, Kohn, Matthias, Cooper, David Neil

, Froenicke, Lutz, Högel, Josef, Hameister, Horst and Kehrer-Sawatzki, Hildegard 2009. Gene synteny comparisons between different vertebrates provide new insights into breakage and fusion events during mammalian karyotype evolution. BMC Evolutionary Biology 9 (1) , 84. 10.1186/1471-2148-9-84

Millar, David Stuart, Lewis, Mark David, Horan, Martin Patrick, Newsway, Victoria Elizabeth, Rees, Dafydd Aled

, Easter, Tammy Elaine, Pepe, Guglielmina, Rickards, Olga, Norin, Martin, Scanlon, Maurice Francis, Krawczak, Michael and Cooper, David Neil

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

Mort, Matthew Edwin, Ivanov, Dobril

, Cooper, David Neil

and Chuzhanova, Nadia 2008. A meta-analysis of nonsense mutations causing human genetic disease. Human Mutation 29 (8) , pp. 1037-1047. 10.1002/humu.20763

Chen, Jian-Min, Cooper, David Neil

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

Kehrer-Sawatzki, Hildegard and Cooper, David Neil

2008. Molecular mechanisms of chromosomal rearrangement during primate evolution. Chromosome Research 16 (1) , pp. 41-56. 10.1007/s10577-007-1207-1

Somers, Christopher M. and Cooper, David Neil

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

Rosser, Lyndon G., McKee, Shane, Millar, David Stuart, Archer, Hayley, Hughes, James, Butler, Rachel, Chuzhanova, Nadia, Cooper, David Neil

and Lazarou, Lazarus P. 2008. Two sisters with Rett syndrome and non-identical paternally-derived microdeletions in the MECP2 gene. Genomic Medicine 2 (3-4) , pp. 77-81. 10.1007/s11568-008-9026-9

Cooper, David Neil

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

Kehrer-Sawatzki, Hildegard and Cooper, David Neil

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

Kehrer-Sawatzki, Hildegard and Cooper, David Neil

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

Khaitovich, Philipp, Kehrer-Sawatzko, Hildegard and Cooper, David Neil

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

Cooper, David Neil

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

Kehrer-Sawatzki, Hildegard and Cooper, David Neil

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

Cooper, David Neil

and Kehrer-Sawatzki, Hildegard 2008. The chimpanzee genome project. Cooper, David Neil and Kehrer-Sawatzki, Hildegard, eds. Handbook of Human Molecular Evolution, Chichester: John Wiley, pp. 1486-1500.

Gibbs, Richard A., Worley, Kim C., Kehrer-Sawatzki, Hildegard and Cooper, David Neil

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

Chen, Jian-Min, Cooper, David Neil

and Férec, Claude 2008. Pathological missense mutations provide new insights into the evolution of trypsinogen genes. 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

Kehrer-Sawatzki, H. and Cooper, David Neil

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

Cooper, David Neil

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

Kehrer-Sawatzki, Hildegard and Cooper, David Neil

2008. Chromosomal rearrangements in the human and chimpanzee lineages. eLS 10.1002/9780470015902.a0020738

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

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.

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

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

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.

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)

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.,