Výsledky vyhledávání - Edkins, Sarah

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

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

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Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation Autor 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

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

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GLO1—A Novel Amplified Gene in Human Cancer Autor 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.

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

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Distinctive Features of Orbital Adipose Tissue (OAT) in Graves’ Orbitopathy Autor 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.

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

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Gata2 as a Crucial Regulator of Stem Cells in Adult Hematopoiesis and Acute Myeloid Leukemia Autor 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.

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

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Recurrent KRAS Codon 146 Mutations in Human Colorectal Cancer Autor 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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Zeb1 modulates hematopoietic stem cell fates required for suppressing acute myeloid leukemia Autor 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.

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

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Signatures of mutation and selection in the cancer genome Autor 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.

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SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome Autor 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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Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing Autor 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

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

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

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

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nSeP: immune and metabolic biomarkers for early detection of neonatal sepsis—protocol for a prospective multicohort study Autor 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

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