An Evaluation of Different Target Enrichment Methods in Pooled Sequencing Designs for Complex Disease Association Studies

Por Day-Williams, Aaron G., McLay, Kirsten, Drury, Eleanor, Edkins, Sarah, Coffey, Alison J., Palotie, Aarno, Zeggini, Eleftheria
Publicado em 2011

PICNIC: an algorithm to predict absolute allelic copy number variation with microarray cancer data

Por Greenman, Chris D., Bignell, Graham, Butler, Adam, Edkins, Sarah, Hinton, Jon, Beare, Dave, Swamy, Sajani, Santarius, Thomas, Chen, Lina, Widaa, Sara, Futreal, P. Andy, Stratton, Michael R.
Publicado em 2010

Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation

Por Molinari, Florence, Foulquier, François, Tarpey, Patrick S., Morelle, Willy, Boissel, Sarah, Teague, Jon, Edkins, Sarah, Futreal, P. Andrew, Stratton, Michael R., Turner, Gillian, Matthijs, Gert, Gecz, Jozef, Munnich, Arnold, Colleaux, Laurence
Publicado em 2008

Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype–phenotype correlation

Por Rujirabanjerd, Sinitdhorn, Nelson, John, Tarpey, Patrick S, Hackett, Anna, Edkins, Sarah, Raymond, F Lucy, Schwartz, Charles E, Turner, Gillian, Iwase, Shigeki, Shi, Yang, Futreal, P Andrew, Stratton, Michael R, Gecz, Jozef
Publicado em 2010

Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation

Por Rujirabanjerd, Sinitdhorn, Nelson, John, Tarpey, Patrick S, Hackett, Anna, Edkins, Sarah, Raymond, F Lucy, Schwartz, Charles E, Turner, Gillian, Iwase, Shigeki, Shi, Yang, Futreal, P Andrew, Stratton, Michael R, Gecz, Jozef
Publicado em 2012

GLO1—A Novel Amplified Gene in Human Cancer

Por Santarius, Thomas, Bignell, Graham R., Greenman, Chris D., Widaa, Sara, Chen, Lina, Mahoney, Claire L., Butler, Adam, Edkins, Sarah, Waris, Sahar, Thornalley, Paul J., Futreal, P. Andrew, Stratton, Michael R.
Publicado em 2010

The Gene for Juvenile Hyaline Fibromatosis Maps to Chromosome 4q21

Por Rahman, Nazneen, Dunstan, Melanie, Teare, M. Dawn, Hanks, Sandra, Edkins, Sarah J., Hughes, Jaime, Bignell, Graham R., Mancini, Grazia, Kleijer, Wim, Campbell, Mary, Keser, Gokhan, Black, Carol, Williams, Nigel, Arbour, Laura, Warman, Matthew, Superti-Furga, Andrea, Futreal, P. Andrew, Pope, F. Michael
Publicado em 2002

Architectures of somatic genomic rearrangement in human cancer amplicons at sequence-level resolution

Por 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.
Publicado em 2007

Recurrent KRAS Codon 146 Mutations in Human Colorectal Cancer

Por 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
Publicado em 2006

The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene

Por Schwartz, Charles E, Tarpey, Patrick S, Lubs, Herbert A, Verloes, Alain, May, Melanie M, Risheg, Hiba, Friez, Michael J, Futreal, P Andrew, Edkins, Sarah, Teague, Jon, Briault, Sylvain, Skinner, Cindy, Bauer‐Carlin, Astrid, Simensen, Richard J, Joseph, Sumy M, Jones, Julie R, Gecz, Josef, Stratton, Michael R, Raymond, F Lucy, Stevenson, Roger E
Publicado em 2007

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

SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome

Por 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
Publicado em 2008

Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing

Por Campbell, Peter J, Stephens, Philip J, Pleasance, Erin D, O’Meara, Sarah, Li, Heng, Santarius, Thomas, Stebbings, Lucy A, Leroy, Catherine, Edkins, Sarah, Hardy, Claire, Teague, Jon W, Menzies, Andrew, Goodhead, Ian, Turner, Daniel J, Clee, Christopher M, Quail, Michael A, Cox, Antony, Brown, Clive, Durbin, Richard, Hurles, Matthew E, Edwards, Paul A W, Bignell, Graham R, Stratton, Michael R, Futreal, P Andrew
Publicado em 2008

Mutations in the DLG3 Gene Cause Nonsyndromic X-Linked Mental Retardation

Por Tarpey, Patrick, Parnau, Josep, Blow, Matthew, Woffendin, Hayley, Bignell, Graham, Cox, Charles, Cox, James, Davies, Helen, Edkins, Sarah, Holden, Simon, Korny, Angelique, Mallya, Uma, Moon, Jenny, O’Meara, Sarah, Parker, Adrian, Stephens, Philip, Stevens, Claire, Teague, Jon, Donnelly, Andrew, Mangelsdorf, Marie, Mulley, John, Partington, Michael, Turner, Gillian, Stevenson, Roger, Schwartz, Charles, Young, Ian, Easton, Douglas, Bobrow, Martin, Futreal, P. Andrew, Stratton, Michael R., Gecz, Jozef, Wooster, Richard, Raymond, F. Lucy
Publicado em 2004

Imputation-Based Meta-Analysis of Severe Malaria in Three African Populations

Por Band, Gavin, Le, Quang Si, Jostins, Luke, Pirinen, Matti, Kivinen, Katja, Jallow, Muminatou, Sisay-Joof, Fatoumatta, Bojang, Kalifa, Pinder, Margaret, Sirugo, Giorgio, Conway, David J., Nyirongo, Vysaul, Kachala, David, Molyneux, Malcolm, Taylor, Terrie, Ndila, Carolyne, Peshu, Norbert, Marsh, Kevin, Williams, Thomas N., Alcock, Daniel, Andrews, Robert, Edkins, Sarah, Gray, Emma, Hubbart, Christina, Jeffreys, Anna, Rowlands, Kate, Schuldt, Kathrin, Clark, Taane G., Small, Kerrin S., Teo, Yik Ying, Kwiatkowski, Dominic P., Rockett, Kirk A., Barrett, Jeffrey C., Spencer, Chris C. A.
Publicado em 2013

Correction: Imputation-Based Meta-Analysis of Severe Malaria in Three African Populations

Por Band, Gavin, Le, Quang Si, Jostins, Luke, Pirinen, Matti, Kivinen, Katja, Jallow, Muminatou, Sisay-Joof, Fatoumatta, Bojang, Kalifa, Pinder, Margaret, Sirugo, Giorgio, Conway, David J., Nyirongo, Vysaul, Kachala, David, Molyneux, Malcolm, Taylor, Terrie, Ndila, Carolyne, Peshu, Norbert, Marsh, Kevin, Williams, Thomas N., Alcock, Daniel, Andrews, Robert, Edkins, Sarah, Gray, Emma, Hubbart, Christina, Jeffreys, Anna, Rowlands, Kate, Schuldt, Kathrin, Clark, Taane G., Small, Kerrin S., Teo, Yik Ying, Kwiatkowski, Dominic P., Rockett, Kirk A., Barrett, Jeffrey C., Spencer, Chris C. A.
Publicado em 2013

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

Chromosomally unstable mouse tumours have genomic alterations similar to diverse human cancers

Por Maser, Richard S., Choudhury, Bhudipa, Campbell, Peter J., Feng, Bin, Wong, Kwok-Kin, Protopopov, Alexei, O’Neil, Jennifer, Gutierrez, Alejandro, Ivanova, Elena, Perna, Ilana, Lin, Eric, Mani, Vidya, Jiang, Shan, McNamara, Kate, Zaghlul, Sara, Edkins, Sarah, Stevens, Claire, Brennan, Cameron, Martin, Eric S., Wiedemeyer, Ruprecht, Kabbarah, Omar, Nogueira, Cristina, Histen, Gavin, Aster, Jon, Mansour, Marc, Duke, Veronique, Foroni, Letizia, Fielding, Adele K., Goldstone, Anthony H., Rowe, Jacob M., Wang, Yaoqi A., Look, A. Thomas, Stratton, Michael R., Chin, Lynda, Futreal, P. Andrew, DePinho, Ronald A.
Publicado em 2007

COMPLEX LANDSCAPES OF SOMATIC REARRANGEMENT IN HUMAN BREAST CANCER GENOMES

Por Stephens, Philip J, McBride, David J, Lin, Meng-Lay, Varela, Ignacio, Pleasance, Erin D, Simpson, Jared T, Stebbings, Lucy A, Leroy, Catherine, Edkins, Sarah, Mudie, Laura J, Greenman, Chris D, Jia, Mingming, Latimer, Calli, Teague, Jon W, Lau, King Wai, Burton, John, Quail, Michael A, Swerdlow, Harold, Churcher, Carol, Natrajan, Rachael, Sieuwerts, Anieta M, Martens, John WM, Silver, Daniel P, Langerod, Anita, Russnes, Hege EG, Foekens, John A, Reis-Filho, Jorge S, van ’t Veer, Laura, Richardson, Andrea L, Børreson-Dale, Anne-Lise, Campbell, Peter J, Futreal, P Andrew, Stratton, Michael R
Publicado em 2009

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