Search Results - Smith, Raffaella 

Exclusion of biglycan mutations in a cohort of patients with neuromuscular disorders by 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 by 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 by 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 by 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 by 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 by 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 by 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 by 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 by 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 by 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 by 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 by 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 by 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 by 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 by 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 by 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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