Canlyniadau Chwilio - Smith, Raffaella

Exclusion of biglycan mutations in a cohort of patients with neuromuscular disorders gan Peat, Rachel A., Gécz, Jozef, Fallon, Justin R., Tarpey, Patrick S., Smith, Raffaella, Futreal, Andrew, Stratton, Michael R., Lamandé, Shireen R., Yang, Nan, North, Kathryn N.

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Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes gan Santos, Lane J. Jaeckle, Xing, Chao, Barnes, Robert B., Ades, Lesley C., Megarbane, Andre, Vidal, Christopher, Xuereb, Angela, Tarpey, Patrick S., Smith, Raffaella, Khazab, Mahmoud, Shoubridge, Cheryl, Partington, Michael, Futreal, Andrew, Stratton, Michael R., Gecz, Jozef, Zinn, Andrew R.

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Recurrent KRAS Codon 146 Mutations in Human Colorectal Cancer gan Edkins, Sarah, O’Meara, Sarah, Parker, Adrian, Stevens, Claire, Reis, Marcelo, Jones, Siân, Greenman, Chris, Davies, Helen, Dalgliesh, Gillian, Forbes, Simon, Hunter, Chris, Smith, Raffaella, Stephens, Philip, Goldstraw, Peter, Nicholson, Andrew, Chan, Tsun Leung, Velculescu, Victor E, Yuen, Siu Tsan, Leung, Suet Yi, Stratton, Michael R, Futreal, P. Andrew

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Fine-Scale Survey of X Chromosome Copy Number Variants and Indels Underlying Intellectual Disability gan Whibley, Annabel C., Plagnol, Vincent, Tarpey, Patrick S., Abidi, Fatima, Fullston, Tod, Choma, Maja K., Boucher, Catherine A., Shepherd, Lorraine, Willatt, Lionel, Parkin, Georgina, Smith, Raffaella, Futreal, P. Andrew, Shaw, Marie, Boyle, Jackie, Licata, Andrea, Skinner, Cindy, Stevenson, Roger E., Turner, Gillian, Field, Michael, Hackett, Anna, Schwartz, Charles E., Gecz, Jozef, Stratton, Michael R., Raymond, F. Lucy

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SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome gan Gilfillan, Gregor D., Selmer, Kaja K., Roxrud, Ingrid, Smith, Raffaella, Kyllerman, Mårten, Eiklid, Kristin, Kroken, Mette, Mattingsdal, Morten, Egeland, Thore, Stenmark, Harald, Sjøholm, Hans, Server, Andres, Samuelsson, Lena, Christianson, Arnold, Tarpey, Patrick, Whibley, Annabel, Stratton, Michael R., Futreal, P. Andrew, Teague, Jon, Edkins, Sarah, Gecz, Jozef, Turner, Gillian, Raymond, F. Lucy, Schwartz, Charles, Stevenson, Roger E., Undlien, Dag E., Strømme, Petter

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Mutations in the BRWD3 Gene Cause X-Linked Mental Retardation Associated with Macrocephaly gan Field, 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. , Andrew Futreal, P. , Lucy Raymond, F. 

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Mutation analysis of 24 known cancer genes in the NCI-60 cell line set gan Ikediobi, 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

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Hypomorphic Temperature-Sensitive Alleles of NSDHL Cause CK Syndrome gan McLarren, Keith W., Severson, Tesa M., du Souich, Christèle, Stockton, David W., Kratz, Lisa E., Cunningham, David, Hendson, Glenda, Morin, Ryan D., Wu, Diane, Paul, Jessica E., An, Jianghong, Nelson, Tanya N., Chou, Athena, DeBarber, Andrea E., Merkens, Louise S., Michaud, Jacques L., Waters, Paula J., Yin, Jingyi, McGillivray, Barbara, Demos, Michelle, Rouleau, Guy A., Grzeschik, Karl-Heinz, Smith, Raffaella, Tarpey, Patrick S., Shears, Debbie, Schwartz, Charles E., Gecz, Jozef, Stratton, Michael R., Arbour, Laura, Hurlburt, Jane, Van Allen, Margot I., Herman, Gail E., Zhao, Yongjun, Moore, Richard, Kelley, Richard I., Jones, Steven J.M., Steiner, Robert D., Raymond, F. Lucy, Marra, Marco A., Boerkoel, Cornelius F.

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Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes gan Dalgliesh, Gillian L., Furge, Kyle, Greenman, Chris, Chen, Lina, Bignell, Graham, Butler, Adam, Davies, Helen, Edkins, Sarah, Hardy, Claire, Latimer, Calli, Teague, Jon, Andrews, Jenny, Barthorpe, Syd, Beare, Dave, Buck, Gemma, Campbell, Peter J., Forbes, Simon, Jia, Mingming, Jones, David, Knott, Henry, Kok, Chai Yin, Lau, King Wai, Leroy, Catherine, Lin, Meng-Lay, McBride, David J, Maddison, Mark, Maguire, Simon, McLay, Kirsten, Menzies, Andrew, Mironenko, Tatiana, Mulderrig, Lee, Mudie, Laura, O’Meara, Sarah, Pleasance, Erin, Rajasingham, Arjunan, Shepherd, Rebecca, Smith, Raffaella, Stebbings, Lucy, Stephens, Philip, Tang, Gurpreet, Tarpey, Patrick S, Turrell, Kelly, Dykema, Karl J., Khoo, Sok Kean, Petillo, David, Wondergem, Bill, Anema, John, Kahnoski, Richard J., Teh, Bin Tean, Stratton, Michael R., Futreal, P. Andrew

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A Hypermutation Phenotype and Somatic MSH6 Mutations in Recurrent Human Malignant Gliomas after Alkylator Chemotherapy gan Hunter, Chris, Smith, Raffaella, Cahill, Daniel P., Stephens, Philip, Stevens, Claire, Teague, Jon, Greenman, Chris, Edkins, Sarah, Bignell, Graham, Davies, Helen, O’Meara, Sarah, Parker, Adrian, Avis, Tim, Barthorpe, Syd, Brackenbury, Lisa, Buck, Gemma, Butler, Adam, Clements, Jody, Cole, Jennifer, Dicks, Ed, Forbes, Simon, Gorton, Matthew, Gray, Kristian, Halliday, Kelly, Harrison, Rachel, Hills, Katy, Hinton, Jonathon, Jenkinson, Andy, Jones, David, Kosmidou, Vivienne, Laman, Ross, Lugg, Richard, Menzies, Andrew, Perry, Janet, Petty, Robert, Raine, Keiran, Richardson, David, Shepherd, Rebecca, Small, Alexandra, Solomon, Helen, Tofts, Calli, Varian, Jennifer, West, Sofie, Widaa, Sara, Yates, Andy, Easton, Douglas F., Riggins, Gregory, Roy, Jennifer E., Levine, Kymberly K., Mueller, Wolf, Batchelor, Tracy T., Louis, David N., Stratton, Michael R., Andrew Futreal, P., Wooster, Richard

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Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation gan Tarpey, 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, Gécz, Jozef

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Sequence Analysis of the Protein Kinase Gene Family in Human Testicular Germ-Cell Tumors of Adolescents and Adults gan Bignell, Graham, Smith, Raffaella, Hunter, Chris, Stephens, Philip, Davies, Helen, Greenman, Chris, Teague, Jon, Butler, Adam, Edkins, Sarah, Stevens, Claire, O’Meara, Sarah, Parker, Adrian, Avis, Tim, Barthorpe, Syd, Brackenbury, Lisa, Buck, Gemma, Clements, Jody, Cole, Jennifer, Dicks, Ed, Edwards, Ken, Forbes, Simon, Gorton, Matthew, Gray, Kristian, Halliday, Kelly, Harrison, Rachel, Hills, Katy, Hinton, Jonathon, Jones, David, Kosmidou, Vivienne, Laman, Ross, Lugg, Richard, Menzies, Andrew, Perry, Janet, Petty, Robert, Raine, Keiran, Shepherd, Rebecca, Small, Alexandra, Solomon, Helen, Stephens, Yvonne, Tofts, Calli, Varian, Jennifer, Webb, Anthony, West, Sofie, Widaa, Sara, Yates, Andy, Gillis, Ad J. M., Stoop, Hans J., van Gurp, Ruud J. H. L. M., Oosterhuis, J. Wolter, Looijenga, Leendert H. J., Futreal, P. Andrew, Wooster, Richard, Stratton, Michael R.

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X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment gan Dibbens, Leanne M, Tarpey, Patrick S, Hynes, Kim, Bayly, Marta A, Scheffer, Ingrid E, Smith, Raffaella, Bomar, Jamee, Sutton, Edwina, Vandeleur, Lucianne, Shoubridge, Cheryl, Edkins, Sarah, Turner, Samantha J, Stevens, Claire, O’Meara, Sarah, Tofts, Calli, Barthorpe, Syd, Buck, Gemma, Cole, Jennifer, Halliday, Kelly, Jones, David, Lee, Rebecca, Madison, Mark, Mironenko, Tatiana, Varian, Jennifer, West, Sofie, Widaa, Sara, Wray, Paul, Teague, John, Dicks, Ed, Butler, Adam, Menzies, Andrew, Jenkinson, Andrew, Shepherd, Rebecca, Gusella, James F, Afawi, Zaid, Mazarib, Aziz, Neufeld, Miriam Y, Kivity, Sara, Lev, Dorit, Lerman-Sagie, Tally, Korczyn, Amos D, Derry, Christopher P, Sutherland, Grant R, Friend, Kathryn, Shaw, Marie, Corbett, Mark, Kim, Hyung-Goo, Geschwind, Daniel H, Thomas, Paul, Haan, Eric, Ryan, Stephen, McKee, Shane, Berkovic, Samuel F, Futreal, P Andrew, Stratton, Michael R, Mulley, John C, Gécz, Jozef

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Somatic mutations of the histone H3K27 demethylase, UTX, in human cancer gan van Haaften, Gijs, Dalgliesh, Gillian L, Davies, Helen, Chen, Lina, Bignell, Graham, Greenman, Chris, Edkins, Sarah, Hardy, Claire, O’Meara, Sarah, Teague, Jon, Butler, Adam, Hinton, Jonathan, Latimer, Calli, Andrews, Jenny, Barthorpe, Syd, Beare, Dave, Buck, Gemma, Campbell, Peter J, Cole, Jennifer, Dunmore, Rebecca, Forbes, Simon, Jia, Mingming, Jones, David, Kok, Chai Yin, Leroy, Catherine, Lin, Meng-Lay, McBride, David J, Maddison, Mark, Maquire, Simon, McLay, Kirsten, Menzies, Andrew, Mironenko, Tatiana, Lee, Mulderrig, Mudie, Laura, Pleasance, Erin, Shepherd, Rebecca, Smith, Raffaella, Stebbings, Lucy, Stephens, Philip, Tang, Gurpreet, Tarpey, Patrick S, Turner, Rachel, Turrell, Kelly, Varian, Jennifer, West, Sofie, Widaa, Sara, Wray, Paul, Collins, V Peter, Ichimura, Koichi, Law, Simon, Wong, John, Yuen, Siu Tsan, Leung, Suet Yi, Tonon, Giovanni, DePinho, Ronald A, Tai, Yu-Tzu, Anderson, Kenneth C, Kahnoski, Richard J., Massie, Aaron, Khoo, Sok Kean, Teh, Bin Tean, Stratton, Michael R, Futreal, P Andrew

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Patterns of somatic mutation in human cancer genomes gan Greenman, Christopher, Stephens, Philip, Smith, Raffaella, Dalgliesh, Gillian L., Hunter, Christopher, Bignell, Graham, Davies, Helen, Teague, Jon, Butler, Adam, Stevens, Claire, Edkins, Sarah, O'Meara, Sarah, Vastrik, Imre, Schmidt, Esther E., Avis, Tim, Barthorpe, Syd, Bhamra, Gurpreet, Buck, Gemma, Choudhury, Bhudipa, Clements, Jody, Cole, Jennifer, Dicks, Ed, Forbes, Simon, Gray, Kris, Halliday, Kelly, Harrison, Rachel, Hills, Katy, Hinton, Jon, Jenkinson, Andy, Jones, David, Menzies, Andy, Mironenko, Tatiana, Perry, Janet, Raine, Keiran, Richardson, Dave, Shepherd, Rebecca, Small, Alexandra, Tofts, Calli, Varian, Jennifer, Webb, Tony, West, Sofie, Widaa, Sara, Yates, Andy, Cahill, Daniel P., Louis, David N., Goldstraw, Peter, Nicholson, Andrew G., Brasseur, Francis, Looijenga, Leendert, Weber, Barbara L., Chiew, Yoke-Eng, deFazio, Anna, Greaves, Mel F., Green, Anthony R., Campbell, Peter, Birney, Ewan, Easton, Douglas F., Chenevix-Trench, Georgia, Tan, Min-Han, Khoo, Sok Kean, Teh, Bin Tean, Yuen, Siu Tsan, Leung, Suet Yi, Wooster, Richard, Futreal, P. Andrew, Stratton, Michael R.

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A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation gan Tarpey, 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

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