檢索結果 - Edkins, Sarah

An Evaluation of Different Target Enrichment Methods in Pooled Sequencing Designs for Complex Disease Association Studies 由 Day-Williams, Aaron G., McLay, Kirsten, Drury, Eleanor, Edkins, Sarah, Coffey, Alison J., Palotie, Aarno, Zeggini, Eleftheria

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation 由 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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

GLO1—A Novel Amplified Gene in Human Cancer 由 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.

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文

Distinctive Features of Orbital Adipose Tissue (OAT) in Graves’ Orbitopathy 由 Zhang, Lei, Evans, Anna, von Ruhland, Chris, Draman, Mohd Shazli, Edkins, Sarah, Vincent, Amy E., Berlinguer-Palmini, Rolando, Rees, D. Aled, Haridas, Anjana S, Morris, Dan, Tee, Andrew R., Ludgate, Marian, Turnbull, Doug M., Karpe, Fredrik, Dayan, Colin M.

獲取全文 獲取全文 獲取全文

The Gene for Juvenile Hyaline Fibromatosis Maps to Chromosome 4q21 由 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

獲取全文 獲取全文

Gata2 as a Crucial Regulator of Stem Cells in Adult Hematopoiesis and Acute Myeloid Leukemia 由 Menendez-Gonzalez, Juan Bautista, Vukovic, Milica, Abdelfattah, Ali, Saleh, Lubaid, Almotiri, Alhomidi, Thomas, Leigh-anne, Agirre-Lizaso, Aloña, Azevedo, Aleksandra, Menezes, Ana Catarina, Tornillo, Giusy, Edkins, Sarah, Kong, Kay, Giles, Peter, Anjos-Afonso, Fernando, Tonks, Alex, Boyd, Ashleigh S., Kranc, Kamil R., Rodrigues, Neil P.

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

Recurrent KRAS Codon 146 Mutations in Human Colorectal Cancer 由 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

獲取全文 獲取全文

Zeb1 modulates hematopoietic stem cell fates required for suppressing acute myeloid leukemia 由 Almotiri, Alhomidi, Alzahrani, Hamed, Menendez-Gonzalez, Juan Bautista, Abdelfattah, Ali, Alotaibi, Badi, Saleh, Lubaid, Greene, Adelle, Georgiou, Mia, Gibbs, Alex, Alsayari, Amani, Taha, Sarab, Thomas, Leigh-anne, Shah, Dhruv, Edkins, Sarah, Giles, Peter, Stemmler, Marc P., Brabletz, Simone, Brabletz, Thomas, Boyd, Ashleigh S., Siebzehnrubl, Florian A., Rodrigues, Neil P.

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

Signatures of mutation and selection in the cancer genome 由 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.

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文

nSeP: immune and metabolic biomarkers for early detection of neonatal sepsis—protocol for a prospective multicohort study 由 Chakraborty, Mallinath, Rodrigues, Patrícia R S, Watkins, W John, Hayward, Angela, Sharma, Alok, Hayward, Rachel, Smit, Elisa, Jones, Rebekka, Goel, Nitin, Asokkumar, Amar, Calvert, Jennifer, Odd, David, Morris, Ian, Doherty, Cora, Elliott, Sian, Strang, Angela, Andrews, Robert, Zaher, Summia, Sharma, Simran, Bell, Sarah, Oruganti, Siva, Smith, Claire, Orme, Judith, Edkins, Sarah, Craigon, Marie, White, Daniel, Dantoft, Widad, Davies, Luke C, Moet, Linda, McLaren, James E, Clarkstone, Samantha, Watson, Gareth L, Hood, Kerenza, Kotecha, Sailesh, Morgan, B. Paul, O’Donnell, Valerie B, Ghazal, Peter

獲取全文 獲取全文 獲取全文