未登录Mutation and copy number detection in human cancers using a custom genotyping assay
Moy, Christopher; Aziz, Muhammad U.; Greshock, Joel; Szabo, Stephen; McNeil, Elizabeth; Jing, Junping; Conway, Theresa; Degenhardt, Yan; Wooster, Richard; Bachman, Kurtis .png)
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收藏分享 收藏 分享 收藏 A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardationTarpey, Patrick S.; Smith, Raffaella; Pleasance, Erin; Whibley, Annabel; Edkins, Sarah; Hardy, Claire; O'Meara, Sarah; Latimer, Calli; Dicks, Ed; Menzies, Andrew; Stephens, Phil; Blow, Matt; Greenman, Chris; Xue, Yali; Tyler-Smith, Chris; Thompson, Deborah; Gray, Kristian; Andrews, Jenny; Barthorpe, Syd; Buck, Gemma; Cole, Jennifer; Dunmore, Rebecca; Jones, David; Maddison, Mark; Mironenko, Tatiana; Turner, Rachel; Turrell, Kelly; Varian, Jennifer; West, Sofie; Widaa, Sara; Wray, Paul; Teague, Jon; Butler, Adam; Jenkinson, Andrew; Jia, Mingming; Richardson, David; Shepherd, Rebecca; Wooster, Richard; Tejada, M. Isabel; Martinez, Francisco; Carvill, Gemma; Goliath, Rene; de Brouwer, Arjan P. M.; van Bokhoven, Hans; Van Esch, Hilde; Chelly, Jamel; Raynaud, Martine; Ropers, Hans-Hilger; Abidi, Fatima E.; Srivastava, Anand K.; Cox, James; Luo, Ying; Mallya, Uma; Moon, Jenny; Parnau, Josef; Mohammed, Shehla; Tolmie, John L.; Shoubridge, Cheryl; Corbett, Mark; Gardner, Alison; Haan, Eric; Rujirabanjerd, Sinitdhorn; Shaw, Marie; Vandeleur, Lucianne; Fullston, Tod; Easton, Douglas F.; Boyle, Jackie; Partington, Michael; Hackett, Anna; Field, Michael; Skinner, Cindy; Stevenson, Roger E.; Bobrow, Martin; Turner, Gillian; Schwartz, Charles E.; Gecz, Jozef; Raymond, F. Lucy; Futreal, P. Andrew; Stratton, Michael R. 分享 收藏 Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardationTarpey, Patrick S.; Raymond, F. Lucy; Nguyen, Lam S.; Rodriguez, Jayson; Hackett, Anna; Vandeleur, Lucianne; Smith, Raffaella; Shoubridge, Cheryl; Edkins, Sarah; Stevens, Claire; O'Meara, Sarah; Tofts, Calli; Barthorpe, Syd; Buck, Gemma; Cole, Jennifer; Halliday, Kelly; Hills, Katy; Jones, David; Mironenko, Tatiana; Perry, Janet; Varian, Jennifer; West, Sofie; Widaa, Sara; Teague, John; Dicks, Ed; Butler, Adam; Menzies, Andrew; Richardson, David; Jenkinson, Andrew; Shepherd, Rebecca; Raine, Keiran; Moon, Jenny; Luo, Yin; Parnau, Josep; Bhat, Shambhu S.; Gardner, Alison; Corbett, Mark; Brooks, Doug; Thomas, Paul; Parkinson-Lawrence, Emma; Porteous, Mary E.; Warner, John P.; Sanderson, Tracy; Pearson, Pauline; Simensen, Richard J.; Skinner, Cindy; Hoganson, George; Superneau, Duane; Wooster, Richard; Bobrow, Martin; Turner, Gillian; Stevenson, Roger E.; Schwartz, Charles E.; Futreal, P. Andrew; Srivastava, Anand K.; Stratton, Michael R.; Gecz, Jozef 分享 收藏 Architectures of somatic genomic rearrangement in human cancer amplicons at sequence-level resolution序列水平分辨率下人类癌症扩增子中体细胞基因组重排的结构Bignell, Graham R.; Santarius, Thomas; Pole, Jessica C. M.; Butler, Adam P.; Perry, Janet; Pleasance, Erin; Greenman, Chris; Menzies, Andrew; Taylor, Sheila; Edkins, Sarah; Campbell, Peter; Quail, Michael; Plumb, Bob; Matthews, Lucy; Mclay, Kirsten; Edwards, Paul A. W.; Rogers, Jane; Wooster, Richard; Futreal, P. Andrew; Stratton, Michael R. 分享 收藏 Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephalyField, Michael; Tarpey, Patrick S.; Smith, Raffaella; Edkins, Sarah; O'Meara, Sarah; Stevens, Claire; Tofts, Calli; Teague, Jon; Butler, Adam; Dicks, Ed; Barthorpe, Syd; Buck, Gemma; Cole, Jennifer; Gray, Kristian; Halliday, Kelly; Hills, Katy; Jenkinson, Andrew; Jones, David; Menzies, Andrew; Mironenko, Tatiana; Perry, Janet; Raine, Keiran; Richardson, David; Shepherd, Rebecca; Small, Alexandra; Varian, Jennifer; West, Sofie; Widaa, Sara; Mallya, Uma; Wooster, Richard; Moon, Jenny; Luo, Ying; Hughes, Helen; Shaw, Marie; Friend, Kathryn L.; Corbett, Mark; Turner, Gillian; Partington, Michael; Mulley, John; Bobrow, Martin; Schwartz, Charles; Stevenson, Roger; Gecz, Jozef; Stratton, Michael R.; Futreal, P. Andrew; Raymond, F. Lucy 分享 收藏 Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a marfanoid habitusRaymond, F. Lucy; Tarpey, Patrick S.; Edkins, Sarah; Tofts, Calli; O'Meara, Sarah; Teague, Jon; Butler, Adam; Stevens, Claire; Barthorpe, Syd; Buck, Gemma; Cole, Jennifer; Dicks, Ed; Gray, Kristian; Halliday, Kelly; Hills, Katy; Hinton, Jonathon; Jones, David; Menzies, Andrew; Perry, Janet; Raine, Keiran; Shepherd, Rebecca; Small, Alexandra; Varian, Jennifer; Widaa, Sara; Mallya, Uma; Moon, Jenny; Luo, Ying; Shaw, Marie; Boyle, Jackie; Kerr, Bronwyn; Turner, Gillian; Quarrell, Oliver; Cole, Trevor; Easton, Douglas F.; Wooster, Richard; Bobrow, Martin; Schwartz, Charles E.; Gecz, Jozef; Stratton, Michael R.; Futreal, P. Andrew 分享 收藏 Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremorTarpey, Patrick S.; Raymond, F. Lucy; O'Meara, Sarah; Edkins, Sarah; Teague, Jon; Butler, Adam; Dicks, Ed; Stevens, Claire; Tofts, Calli; Avis, Tim; Barthorpe, Syd; Buck, Gemma; Cole, Jennifer; Gray, Kristian; Halliday, Kelly; Harrison, Rachel; Hills, Katy; Jenkinson, Andrew; Jones, David; Menzies, Andrew; Mironenko, Tatiana; Perry, Janet; Raine, Keiran; Richardson, David; Shepherd, Rebecca; Small, Alexandra; Varian, Jennifer; West, Sofie; Widaa, Sara; Mallya, Uma; Moon, Jenny; Luo, Ying; Holder, Susan; Smithson, Sarah F.; Hurst, Jane A.; Clayton-Smith, Jill; Kerr, Bronwyn; Boyle, Jackie; Shaw, Marie; Vandeleur, Lucianne; Rodriguez, Jayson; Slaugh, Rachel; Easton, Douglas F.; Wooster, Richard; Bobrow, Martin; Srivastava, Anand K.; Stevenson, Roger E.; Schwartz, Charles E.; Turner, Gillian; Gecz, Jozef; Futreal, P. Andrew; Stratton, Michael R.; Partington, Michael 分享 收藏 Mutations in the gene encoding the sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardationTarpey, Patrick S.; Stevens, Claire; Teague, Jon; Edkins, Sarah; O'Meara, Sarah; Avis, Tim; Barthorpe, Syd; Buck, Gemma; Butler, Adam; Cole, Jennifer; Dicks, Ed; Gray, Kristian; Halliday, Kelly; Harrison, Rachel; Hills, Katy; Hinton, Jonathon; Jones, David; Menzies, Andrew; Mironenko, Tatiana; Perry, Janet; Raine, Keiran; Richardson, David; Shepherd, Rebecca; Small, Alexandra; Tofts, Calli; Varian, Jennifer; West, Sofie; Widaa, Sara; Yates, Andy; Catford, Rachael; Butler, Julia; Mallya, Uma; Moon, Jenny; Luo, Ying; Dorkins, Huw; Thompson, Deborah; Easton, Douglas F.; Wooster, Richard; Bobrow, Martin; Carpenter, Nancy; Simensen, Richard J.; Schwartz, Charles E.; Stevenson, Roger E.; Turner, Gillian; Partington, Michael; Gecz, Jozef; Stratton, Michael R.; Futreal, P. Andrew; Raymond, F. Lucy 分享 收藏 Mutation analysis of 24 known cancer genes in the NCI-60 cell line setIkediobi, Ogechi N.; Davies, Helen; Bignell, Graham; Edkins, Sarah; Stevens, Claire; O'Meara, Sarah; Santarius, Thomas; Avis, Tim; Barthorpe, Syd; Brackenbury, Lisa; Buck, Gemma; Butler, Adam; Clements, Jody; Cole, Jennifer; Dicks, Ed; Forbes, Simon; Gray, Kristian; Halliday, Kelly; Harrison, Rachel; Hills, Katy; Hinton, Jonathan; Hunter, Chris; Jenkinson, Andy; Jones, David; Kosmidou, Vivienne; Lugg, Richard; Menzies, Andrew; Mironenko, Tatiana; Parker, Adrian; Perry, Janet; Raine, Keiran; Richardson, David; Shepherd, Rebecca; Small, Alex; Smith, Raffaella; Solomon, Helen; Stephens, Philip; Teague, Jon; Tofts, Calli; Varian, Jennifer; Webb, Tony; West, Sofie; Widaa, Sara; Yates, Andy; Reinhold, William; Weinstein, John N.; Stratton, Michael R.; Futreal, P. Andrew; Wooster, Richard 分享 收藏 分享 收藏 A hypermutation phenotype and somatic MSH6 mutations in recurrent human malignant gliomas after alkylator chemotherapyHunter, C; Smith, R; Cahill, DP; Stephens, P; Stevens, C; Teague, J; Greenman, C; Edkins, S; Bignell, G; Davies, H; O'Meara, S; Parker, A; Avis, T; Barthorpe, S; Brackenbury, L; Buck, G; Butler, A; Clements, J; Cole, J; Dicks, E; Forbes, S; Gorton, M; Gray, K; Halliday, K; Harrison, R; Hills, K; Hinton, J; Jenkinson, A; Jones, D; Kosmidou, V; Laman, R; Lugg, R; Menzies, A; Perry, J; Petty, R; Raine, K; Richardson, D; Shepherd, R; Small, A; Solomon, H; Tofts, C; Varian, J; West, S; Widaa, S; Yates, A; Easton, DF; Riggins, G; Roy, JE; Levine, KK; Mueller, W; Batchelor, TT; Louis, DN; Stratton, MR; Futreal, PA; Wooster, R 分享 收藏 A genome wide linkage search for breast cancer susceptibility genesSmith, Paula; McGuffog, Lesley; Easton, Douglas F.; Mann, Graham J.; Pupo, Gulietta M.; Newman, Beth; Chenevix-Trench, Georgia; Szabo, Csilla; Southey, Melissa; Renard, Helene; Odefrey, Fabrice; Lynch, Henry; Stoppa-Lyonnet, Dominique; Couch, Fergus; Hopper, John L.; Giles, Graham G.; McCredie, Margaret R. E.; Buys, Saundra; Andrulis, Irene; Senie, Ruby; Goldgar, David E.; Oldenburg, Rogier; Kroeze-Jansema, Karin; Kraan, Jaennelle; Meijers-Heijboer, Hanne; Klijn, Jan G. M.; van Asperen, Christi; van Leeuwen, Inge; Vasen, Hans F. A.; Cornelisse, Cees J.; Devilee, Peter; Baskcomb, Linda; Seal, Sheila; Barfoot, Rita; Mangion, Jon; Hall, Anita; Edkins, Sarah; Rapley, Elizabeth; Wooster, Richard; Chang-Claude, Jenny; Eccles, Diana; Evans, D. Gareth; Futreal, P. Andrew; Nathanson, Katherine L.; Weber, Barbara L.; Rahman, Nazneen; Stratton, Michael R. 分享 收藏 High throughput DNA sequence variant detection by conformation sensitive capillary electrophoresis and automated peak comparisonDavies, H; Dicks, E; Stephens, P; Cox, C; Teague, J; Greenman, C; Bignell, G; O'Meara, S; Edkins, S; Parker, A; Stevens, C; Menzies, A; Blow, M; Bottomley, B; Dronsfield, M; Futreal, PA; Stratton, MR; Wooster, R 分享 收藏 COSMIC 2005Forbes, S; Clements, J; Dawson, E; Bamford, S; Webb, T; Dogan, A; Flanagan, A; Teague, J; Wooster, R; Futreal, PA; Stratton, MR 分享 收藏 Sequence analysis of the protein kinase gene family in human testicular germ-cell tumors of adolescents and adultsBignell, G; Smith, R; Hunter, C; Stephens, P; Davies, H; Greenman, C; Teague, J; Butler, A; Edkins, S; Stevens, C; O'Meara, S; Parker, A; Avis, T; Barthorpe, S; Brackenbury, L; Buck, G; Clements, J; Cole, J; Dicks, E; Edwards, K; Forbes, S; Gorton, M; Gray, K; Halliday, K; Harrison, R; Hills, K; Hinton, J; Jones, D; Kosmidou, V; Laman, R; Lugg, R; Menzies, A; Perry, J; Petty, R; Raine, K; Shepherd, R; Small, A; Solomon, H; Stephens, Y; Tofts, C; Varian, J; Webb, A; West, S; Wida, S; Yates, A; Gillis, AJM; Stoop, HJ; van Gurp, RJHLM; Oosterhuis, JW; Looijenga, LHJ; Futreal, RA; Wooster, R; Stratton, MR 分享 收藏 Somatic mutations of the protein kinase gene family in human lung cancerDavies, H; Hunter, C; Smith, R; Stephens, P; Greenman, C; Bignell, G; Teague, B; Butler, A; Edkins, S; Stevens, C; Parker, A; O'Meara, S; Avis, T; Barthorpe, S; Brackenbury, L; Buck, G; Clements, B; Cole, J; Dicks, E; Edwards, K; Forbes, S; Gorton, M; Gray, K; Halliday, K; Harrison, R; Hills, K; Hinton, J; Jones, D; Kosmidou, V; Laman, R; Lugg, R; Menzies, A; Perry, J; Petty, R; Raine, K; Shepherd, R; Small, A; Solomon, H; Stephens, Y; Tofts, C; Varian, J; Webb, A; West, S; Widaa, S; Yates, A; Brasseur, F; Cooper, CS; Flanagan, AM; Green, A; Knowles, M; Leung, SY; Looijenga, LHJ; Malkowicz, B; Pierotti, MA; Teh, BT; Yuen, ST; Lakhani, SR; Easton, DF; Weber, BL; Goldstraw, P; Nicholson, AG; Wooster, R; Stratton, MR; Futreal, PA 分享 收藏 A screen of the complete protein kinase gene family identifies diverse patterns of somatic mutations in human breast cancerStephens, P; Edkins, S; Davies, H; Greenman, C; Cox, C; Hunter, C; Bignell, G; Teague, J; Smith, R; Stevens, C; O'Meara, S; Parker, A; Tarpey, P; Avis, T; Barthorpe, A; Brackenbury, L; Buck, G; Butler, A; Clements, J; Cole, J; Dicks, E; Edwards, K; Forbes, S; Gorton, M; Gray, K; Halliday, K; Harrison, R; Hills, K; Hinton, J; Jones, D; Kosmidou, V; Laman, R; Lugg, R; Menzies, A; Perry, J; Petty, R; Raine, K; Shepherd, R; Small, A; Solomon, H; Stephens, Y; Tofts, C; Varian, J; Webb, A; West, S; Widaa, S; Yates, A; Brasseur, F; Cooper, CS; Flanagan, AM; Green, A; Knowles, M; Leung, SY; Looijenga, LHJ; Malkowicz, B; Pierotti, MA; Teh, B; Yuen, ST; Nicholson, AG; Lakhani, S; Easton, DF; Weber, BL; Stratton, MR; Futreal, PA; Wooster, R 分享 收藏 
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