Methods and strategies for analyzing copy number variation using DNA microarrays von CARTER, Nigel P

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DECIPHER : Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources von FIRTH, Helen V, RICHARDS, Shola M, BEVAN, A. Paul, CLAYTON, Stephen, CORPAS, Manuel, RAJAN, Diana, VAN VOOREN, Steven, MOREAU, Yves, PETTETT, Roger M, CARTER, Nigel P

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Origins and functional impact of copy number variation in the human genome von Scherer, Stephen W, Hurles, Matthew E, Conrad, Donald F, Pinto, Dalila, Redon, Richard, Feuk, Lars, Gokcumen, Omer, Zhang, Yujun, Aerts, Jan, Andrews, T. Daniel, Barnes, Chris, Campbell, Peter, Fitzgerald, Tomas, Hu, Min, Ihm, Chun Hwa, Kristiansson, Kati, MacArthur, Daniel G, MacDonald, Jeffrey R, Onyiah, Ifejinelo, Pang, Andy Wing Chun, Robson, Sam, Stirrups, Kathy, Valsesia, Armand, Walter, Klaudia, Wei, John, Tyler-Smith, Chris, Carter, Nigel P, Lee, Charles

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Diet and the evolution of human amylase gene copy number variation von Dominy, Nathaniel J, Perry, George H, Claw, Katrina G, Lee, Arthur S, Fiegler, Heike, Redon, Richard, Werner, John, Villanea, Fernando A, Mountain, Joanna L, Misra, Rajeev, Carter, Nigel P, Lee, Charles, Stone, Anne C

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Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants von Feuk, Lars, Pinto, Dalila, Darvishi, Katayoon, Shi, Xinghua, Rajan, Diana, Rigler, Diane, Fitzgerald, Tom, Lionel, Anath C, Thiruvahindrapuram, Bhooma, MacDonald, Jeffrey R, Mills, Ryan, Prasad, Aparna, Noonan, Kristin, Gribble, Susan, Prigmore, Elena, Donahoe, Patricia K, Smith, Richard S, Park, Ji Hyeon, Hurles, Matthew E, Carter, Nigel P, Lee, Charles, Scherer, Stephen W

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Paired-End Mapping Reveals Extensive Structural Variation in the Human Genome von Korbel, Jan O, Urban, Alexander Eckehart, Affourtit, Jason P, Godwin, Brian, Grubert, Fabian, Simons, Jan Fredrik, Kim, Philip M, Palejev, Dean, Carriero, Nicholas J, Du, Lei, Taillon, Bruce E, Chen, Zhoutao, Tanzer, Andrea, Saunders, A.C. Eugenia, Chi, Jianxiang, Yang, Fengtang, Carter, Nigel P, Hurles, Matthew E, Weissman, Sherman M, Harkins, Timothy T, Gerstein, Mark B, Egholm, Michael, Snyder, Michael

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A high-resolution survey of deletion polymorphism in the human genome von Pritchard, Jonathan K, Conrad, Donald F, Andrews, T Daniel, Carter, Nigel P, Hurles, Matthew E

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Genome Sequencing and Analysis of the Tasmanian Devil and Its Transmissible Cancer von Murchison, Elizabeth P., Schulz-Trieglaff, Ole B., Ning, Zemin, Alexandrov, Ludmil B., Bauer, Markus J., Fu, Beiyuan, Hims, Matthew, Ding, Zhihao, Ivakhno, Sergii, Stewart, Caitlin, Ng, Bee Ling, Wong, Wendy, Aken, Bronwen, White, Simon, Alsop, Amber, Becq, Jennifer, Bignell, Graham R., Cheetham, R. Keira, Cheng, William, Connor, Thomas R., Cox, Anthony J., Feng, Zhi-Ping, Gu, Yong, Grocock, Russell J., Harris, Simon R., Khrebtukova, Irina, Kingsbury, Zoya, Kowarsky, Mark, Kreiss, Alexandre, Luo, Shujun, Marshall, John, McBride, David J., Murray, Lisa, Pearse, Anne-Maree, Raine, Keiran, Rasolonjatovo, Isabelle, Shaw, Richard, Tedder, Philip, Tregidgo, Carolyn, Vilella, Albert J., Wedge, David C., Woods, Gregory M., Gormley, Niall, Humphray, Sean, Schroth, Gary, Smith, Geoffrey, Hall, Kevin, Searle, Stephen M.J., Carter, Nigel P., Papenfuss, Anthony T., Futreal, P. Andrew, Campbell, Peter J., Yang, Fengtang, Bentley, David R., Evers, Dirk J., Stratton, Michael R.

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Massively parallel sequencing reveals the complex structure of an irradiated human chromosome on a mouse background in the Tc1 model of Down syndrome von Gribble, Susan M, Wiseman, Frances K, Clayton, Stephen, Prigmore, Elena, Langley, Elizabeth, Yang, Fengtang, Maguire, Sean, Fu, Beiyuan, Rajan, Diana, Sheppard, Olivia, Scott, Carol, Hauser, Heidi, Stephens, Philip J, Stebbings, Lucy A, Ng, Bee Ling, Fitzgerald, Tomas, Quail, Michael A, Banerjee, Ruby, Rothkamm, Kai, Tybulewicz, Victor L J, Fisher, Elizabeth M C, Carter, Nigel P

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Copy number variation: new insights in genome diversity von Freeman, Jennifer L, Perry, George H, Feuk, Lars, Redon, Richard, McCarroll, Steven A, Altshuler, David M, Aburatani, Hiroyuki, Jones, Keith W, Tyler-Smith, Chris, Hurles, Matthew E, Carter, Nigel P, Scherer, Stephen W, Lee, Charles

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An integrated resource for genome-wide identification and analysis of human tissue-specific differentially methylated regions (tDMRs) von Rakyan, Vardhman K, Down, Thomas A, Thorne, Natalie P, Flicek, Paul, Kulesha, Eugene, Gräf, Stefan, Tomazou, Eleni M, Bäckdahl, Liselotte, Johnson, Nathan, Herberth, Marlis, Howe, Kevin L, Jackson, David K, Miretti, Marcos M, Fiegler, Heike, Marioni, John C, Birney, Ewan, Hubbard, Tim J P, Carter, Nigel P, Tavaré, Simon, Beck, Stephan

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Human Y Chromosome Base-Substitution Mutation Rate Measured by Direct Sequencing in a Deep-Rooting Pedigree von Xue, Yali, Wang, Qiuju, Long, Quan, Ng, Bee Ling, Swerdlow, Harold, Burton, John, Skuce, Carl, Taylor, Ruth, Abdellah, Zahra, Zhao, Yali, MacArthur, Daniel G., Quail, Michael A., Carter, Nigel P., Yang, Huanming, Tyler-Smith, Chris

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The landscape of histone modifications across 1% of the human genome in five human cell lines von Koch, Christoph M, Andrews, Robert M, Flicek, Paul, Dillon, Shane C, Karaöz, Ulaş, Clelland, Gayle K, Wilcox, Sarah, Beare, David M, Fowler, Joanna C, Couttet, Phillippe, James, Keith D, Lefebvre, Gregory C, Bruce, Alexander W, Dovey, Oliver M, Ellis, Peter D, Dhami, Pawandeep, Langford, Cordelia F, Weng, Zhiping, Birney, Ewan, Carter, Nigel P, Vetrie, David, Dunham, Ian

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Copy number variation and evolution in humans and chimpanzees von Perry, George H, Yang, Fengtang, Marques-Bonet, Tomas, Murphy, Carly, Fitzgerald, Tomas, Lee, Arthur S, Hyland, Courtney, Stone, Anne C, Hurles, Matthew E, Tyler-Smith, Chris, Eichler, Evan E, Carter, Nigel P, Lee, Charles, Redon, Richard

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Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome von Malan, Valérie, Rajan, Diana, Thomas, Sophie, Shaw, Adam C., Louis dit Picard, Hélène, Layet, Valérie, Till, Marianne, van Haeringen, Arie, Mortier, Geert, Nampoothiri, Sheela, Pušeljić, Silvija, Legeai-Mallet, Laurence, Carter, Nigel P., Vekemans, Michel, Munnich, Arnold, Hennekam, Raoul C., Colleaux, Laurence, Cormier-Daire, Valérie

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Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing von Lee, Charles, Seo, Jeong-Sun, Park, Hansoo, Kim, Jong-Il, Ju, Young Seok, Gokcumen, Omer, Mills, Ryan E, Kim, Sheehyun, Lee, Seungbok, Suh, Dongwhan, Hong, Dongwan, Kang, Hyunseok Peter, Yoo, Yun Joo, Shin, Jong-Yeon, Kim, Hyun-Jin, Yavartanoo, Maryam, Chang, Young Wha, Ha, Jung-Sook, Chong, Wilson, Hwang, Ga-Ram, Darvishi, Katayoon, Kim, HyeRan, Yang, Song Ju, Yang, Kap-Seok, Kim, Hyungtae, Hurles, Matthew E, Scherer, Stephen W, Carter, Nigel P, Tyler-Smith, Chris

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EYS , encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa von Barragan, Isabel, Shah, Amna, Mena, Marcela, Abd El-Aziz, Mai M, El-Ashry, Mohamed F, Cheetham, Michael E, Antinolo, Guillermo, O'Driscoll, Ciara A, Ponting, Chris P, Goodstadt, Leo, Pieras, Juan I, Prigmore, Elena, Safieh, Leen Abu, Chakarova, Christina, Borrego, Salud, Carter, Nigel P, Bhattacharya, Shomi S

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Adaptive Evolution of UGT2B17 Copy-Number Variation von Xue, Yali, Sun, Donglin, Daly, Allan, Yang, Fengtang, Zhou, Xue, Zhao, Mengyao, Huang, Ni, Zerjal, Tatiana, Lee, Charles, Carter, Nigel P., Hurles, Matthew E., Tyler-Smith, Chris

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The Role of DNA Copy Number Variation in Schizophrenia von Tam, Gloria W.C, Redon, Richard, Carter, Nigel P, Grant, Seth G.N

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High resolution array-CGH analysis of single cells von Fiegler, Heike, Geigl, Jochen B., Langer, Sabine, Rigler, Diane, Porter, Keith, Unger, Kristian, Carter, Nigel P., Speicher, Michael R.

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