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Number of items: 28.

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
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Cooper, David Neil, Ball, Edward V., Stenson, Peter Daniel and The 1000 Genomes Project Consortium, 2015. A global reference for human genetic variation. Nature 526 , pp. 68-74. 10.1038/nature15393
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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
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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

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

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

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

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

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

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

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.

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

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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.

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

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

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

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.

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
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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

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

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

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

Krawczak, M., Chuzhanova, N. A., Stenson, Peter Daniel, Johansen, B. N., Ball, Edward Vincent and Cooper, David Neil 2000. Changes in primary DNA sequence complexity influence the phenotypic consequences of mutations in human gene regulatory regions. Human Genetics -Berlin- 107 (4) , pp. 362-365. 10.1007/s004390000393

Krawczak, M., Ball, Edward Vincent, Fenton, I., Stenson, Peter Daniel, Abeysinghe, S., Thomas, N. and Cooper, David Neil 2000. Human gene mutation database-a biomedical information and research resource. Human Mutation 15 (1) , pp. 45-51. 10.1002/(sici)1098-1004(200001)15:1%3C45::aid-humu10%3E3.0.co;2-t

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

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This list was generated on Mon Aug 19 04:38:23 2019 BST.