Genome-Wide Copy Number Variation Analysis in Extended Families and Unrelated Individuals Characterized for Musical Aptitude and Creativity in Music

Por Ukkola-Vuoti, Liisa, Kanduri, Chakravarthi, Oikkonen, Jaana, Buck, Gemma, Blancher, Christine, Raijas, Pirre, Karma, Kai, Lähdesmäki, Harri, Järvelä, Irma
Publicado em 2013

The genome-wide landscape of copy number variations in the MUSGEN study provides evidence for a founder effect in the isolated Finnish population

Por Kanduri, Chakravarthi, Ukkola-Vuoti, Liisa, Oikkonen, Jaana, Buck, Gemma, Blancher, Christine, Raijas, Pirre, Karma, Kai, Lähdesmäki, Harri, Järvelä, Irma
Publicado em 2013

Rapid Emergence of Chronic Lymphocytic Leukemia During JAK2 Inhibitor Therapy in a Patient With Myelofibrosis

Por Sousos, Nikolaos, Buck, Gemma, Rodriguez-Meira, Alba, Norfo, Ruggiero, Hamblin, Angela, Pezzella, Francesco, Davies, Jennifer, Hublitz, Philip, Psaila, Bethan, Mead, Adam J.
Publicado no Hemasphere (2020)

Unravelling Intratumoral Heterogeneity through High-Sensitivity Single-Cell Mutational Analysis and Parallel RNA Sequencing

Por Rodriguez-Meira, Alba, Buck, Gemma, Clark, Sally-Ann, Povinelli, Benjamin J., Alcolea, Veronica, Louka, Eleni, McGowan, Simon, Hamblin, Angela, Sousos, Nikolaos, Barkas, Nikolaos, Giustacchini, Alice, Psaila, Bethan, Jacobsen, Sten Eirik W., Thongjuea, Supat, Mead, Adam J.
Publicado no Mol Cell (2019)

H3K79me2/3 controls enhancer–promoter interactions and activation of the pan-cancer stem cell marker PROM1/CD133 in MLL-AF4 leukemia cells

Por Godfrey, Laura, Crump, Nicholas T., O’Byrne, Sorcha, Lau, I-Jun, Rice, Siobhan, Harman, Joe R., Jackson, Thomas, Elliott, Natalina, Buck, Gemma, Connor, Christopher, Thorne, Ross, Knapp, David J. H. F., Heidenreich, Olaf, Vyas, Paresh, Menendez, Pablo, Inglott, Sarah, Ancliff, Philip, Geng, Huimin, Roberts, Irene, Roy, Anindita, Milne, Thomas A.
Publicado no Leukemia (2020)

Signatures of mutation and selection in the cancer genome

Por Bignell, Graham R., Greenman, Chris D., Davies, Helen, Butler, Adam P., Edkins, Sarah, Andrews, Jenny M., Buck, Gemma, Chen, Lina, Beare, David, Latimer, Calli, Widaa, Sara, Hinton, Jonathon, Fahey, Ciara, Fu, Beiyuan, Swamy, Sajani, Dalgliesh, Gillian L., Teh, Bin T., Deloukas, Panos, Yang, Fengtang, Campbell, Peter J., Futreal, P. Andrew, Stratton, Michael R.
Publicado em 2010

Spliceosome mutations are common in persons with myeloproliferative neoplasm-associated myelofibrosis with RBC-transfusion-dependence and correlate with response to pomalidomide

Por Chowdhury, Onima, O’Sullivan, Jennifer, Barkas, Nikolas, Wang, Guanlin, Buck, Gemma, Hamblin, Angela, Tefferi, Ayalew, Al-Ali, Haifa K., Barosi, Giovanni, Devos, Timothy, Gisslinger, Heinz, Jiang, Qian, Kiladjian, Jean-Jacques, Mesa, Ruben, Passamonti, Francesco, Ribrag, Vincent, Schiller, Gary, Vannucchi, Alessandro M., Zhou, Daobin, McMullin, Mary Frances, Zhong, Jianhua, Gale, Robert Peter, Mead, Adam J.
Publicado no Leukemia (2021)

Heterogeneous disease-propagating stem cells in juvenile myelomonocytic leukemia

Por Louka, Eleni, Povinelli, Benjamin, Rodriguez-Meira, Alba, Buck, Gemma, Wen, Wei Xiong, Wang, Guanlin, Sousos, Nikolaos, Ashley, Neil, Hamblin, Angela, Booth, Christopher A.G., Roy, Anindita, Elliott, Natalina, Iskander, Deena, de la Fuente, Josu, Fordham, Nicholas, O’Byrne, Sorcha, Inglott, Sarah, Norfo, Ruggiero, Salio, Mariolina, Thongjuea, Supat, Rao, Anupama, Roberts, Irene, Mead, Adam J.
Publicado no J Exp Med (2021)

Mutations in ZDHHC9, Which Encodes a Palmitoyltransferase of NRAS and HRAS, Cause X-Linked Mental Retardation Associated with a Marfanoid Habitus

Por Raymond, 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
Publicado em 2007

Mutations in the BRWD3 Gene Cause X-Linked Mental Retardation Associated with Macrocephaly

Por 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. 
Publicado em 2007

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

Por 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
Publicado em 2006

Mutations in the Gene Encoding the Sigma 2 Subunit of the Adaptor Protein 1 Complex, AP1S2, Cause X-Linked Mental Retardation

Por Tarpey, 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 
Publicado em 2006

Genome-wide association study identifies a novel variant in RAD51B associated with male breast cancer risk

Por Orr, Nick, Lemnrau, Alina, Cooke, Rosie, Fletcher, Olivia, Tomczyk, Katarzyna, Jones, Michael, Johnson, Nichola, Lord, Christopher J, Mitsopoulos, Costas, Zvelebil, Marketa, McDade, Simon S, Buck, Gemma, Blancher, Christine, Consortium, KConFab, Trainer, Alison H, James, Paul A, Bojesen, Stig E, Bokmand, Susanne, Nevanlinna, Heli, Mattson, Johanna, Friedman, Eitan, Laitman, Yael, Palli, Domenico, Masala, Giovanna, Zanna, Ines, Ottini, Laura, Giannini, Giuseppe, Hollestelle, Antoinette, van den Ouweland, Ans M.W., Novaković, Srdjan, Krajc, Mateja, Gago-Dominguez, Manuela, Castelao, Jose Esteban, Olsson, Håkan, Hedenfalk, Ingrid, Easton, Douglas F, Pharoah, Paul DP, Dunning, Alison M, Bishop, D Timothy, Neuhausen, Susan L, Steele, Linda, Houlston, Richard S, Garcia-Closas, Montserrat, Ashworth, Alan, Swerdlow, Anthony J
Publicado em 2012

Mutations in CUL4B, Which Encodes a Ubiquitin E3 Ligase Subunit, Cause an X-linked Mental Retardation Syndrome Associated with Aggressive Outbursts, Seizures, Relative Macrocephaly...

Por Tarpey, 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 
Publicado em 2007

Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes

Por 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
Publicado em 2010

A Hypermutation Phenotype and Somatic MSH6 Mutations in Recurrent Human Malignant Gliomas after Alkylator Chemotherapy

Por 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
Publicado no Cancer Res (2006)

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

Por 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
Publicado em 2007

Sequence Analysis of the Protein Kinase Gene Family in Human Testicular Germ-Cell Tumors of Adolescents and Adults

Por 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.
Publicado no Genes Chromosomes Cancer (2006)

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

Por 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
Publicado em 2008

Somatic mutations of the histone H3K27 demethylase, UTX, in human cancer

Por 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
Publicado em 2009