Resultats de la cerca - Tarpey, Patrick S. 

What is next generation sequencing? per Behjati, Sam, Tarpey, Patrick S

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VAGrENT: Variation Annotation Generator per Menzies, Andy, Teague, Jon W., Butler, Adam P., Davies, Helen, Tarpey, Patrick, Nik-Zainal, Serena, Campbell, Peter J.

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cgpCaVEManWrapper: Simple Execution of CaVEMan in Order to Detect Somatic Single Nucleotide Variants in NGS Data per Jones, David, Raine, Keiran M., Davies, Helen, Tarpey, Patrick S., Butler, Adam P., Teague, Jon W., Nik-Zainal, Serena, Campbell, Peter J.

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cgpPindel: Identifying Somatically Acquired Insertion and Deletion Events from Paired End Sequencing per Raine, Keiran M., Hinton, Jonathan, Butler, Adam P., Teague, Jon W., Davies, Helen, Tarpey, Patrick, Nik-Zainal, Serena, Campbell, Peter J.

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Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer per Snape, Katie, Ruark, Elise, Tarpey, Patrick, Renwick, Anthony, Turnbull, Clare, Seal, Sheila, Murray, Anne, Hanks, Sandra, Douglas, Jenny, Stratton, Michael R., Rahman, Nazneen

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Exclusion of biglycan mutations in a cohort of patients with neuromuscular disorders per 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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ascatNgs: Identifying Somatically Acquired Copy-Number Alterations from Whole-Genome Sequencing Data per Raine, Keiran M., Van Loo, Peter, Wedge, David C., Jones, David, Menzies, Andrew, Butler, Adam P., Teague, Jon W., Tarpey, Patrick, Nik-Zainal, Serena, Campbell, Peter J.

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An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity per Takano, Kyoko, Liu, Dan, Tarpey, Patrick, Gallant, Esther, Lam, Alex, Witham, Shawn, Alexov, Emil, Chaubey, Alka, Stevenson, Roger E., Schwartz, Charles E., Board, Philip G., Dulhunty, Angela F.

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A Pathogenic Mosaic TP53 Mutation in Two Germ Layers Detected by Next Generation Sequencing per Behjati, Sam, Maschietto, Mariana, Williams, Richard D., Side, Lucy, Hubank, Mike, West, Rebecca, Pearson, Katie, Sebire, Neil, Tarpey, Patrick, Futreal, Andrew, Brooks, Tony, Stratton, Michael R., Anderson, John

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Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation per 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 per 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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Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation per 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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The NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer per Trotman, Jamie, Armstrong, Ruth, Firth, Helen, Trayers, Claire, Watkins, James, Allinson, Kieren, Jacques, Thomas S., Nicholson, James C., Burke, G. A. Amos, Behjati, Sam, Murray, Matthew J., Hook, Catherine E., Tarpey, Patrick

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Natural History of Christianson Syndrome per Schroer, Richard J., Holden, Kenton R., Tarpey, Patrick S., Matheus, Maria Giselle, Griesemer, David A., Friez, Michael J., Fan, Jane Zheng, Simensen, Richard J., Strømme, Petter, Stevenson, Roger E., Stratton, Michael R., Schwartz, Charles E.

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Fibroblastic growth factor receptor 1 amplification in osteosarcoma is associated with poor response to neo-adjuvant chemotherapy per Fernanda Amary, M, Ye, Hongtao, Berisha, Fitim, Khatri, Bhavisha, Forbes, Georgina, Lehovsky, Katie, Frezza, Anna M, Behjati, Sam, Tarpey, Patrick, Pillay, Nischalan, Campbell, Peter J, Tirabosco, Roberto, Presneau, Nadège, Strauss, Sandra J, Flanagan, Adrienne M

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Dysregulations of sonic hedgehog signaling in MED12‐related X‐linked intellectual disability disorders per Srivastava, Siddharth, Niranjan, Tejasvi, May, Melanie M., Tarpey, Patrick, Allen, William, Hackett, Anna, Jouk, Pierre‐Simon, Raymond, Lucy, Briault, Slyvain, Skinner, Cindy, Toutain, Annick, Gecz, Jozef, Heath, William, Stevenson, Roger E., Schwartz, Charles E., Wang, Tao

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Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes per 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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Diagnostic value of H3F3A mutations in giant cell tumour of bone compared to osteoclast‐rich mimics per Presneau, Nadège, Baumhoer, Daniel, Behjati, Sam, Pillay, Nischalan, Tarpey, Patrick, Campbell, Peter J, Jundt, Gernot, Hamoudi, Rifat, Wedge, David C, Loo, Peter Van, Hassan, A Bassim, Khatri, Bhavisha, Ye, Hongtao, Tirabosco, Roberto, Amary, M Fernanda, Flanagan, Adrienne M

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The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus per Thomas, Mervyn G., Crosier, Moira, Lindsay, Susan, Kumar, Anil, Thomas, Shery, Araki, Masasuke, Talbot, Chris J., McLean, Rebecca J., Surendran, Mylvaganam, Taylor, Katie, Leroy, Bart P., Moore, Anthony T., Hunter, David G., Hertle, Richard W., Tarpey, Patrick, Langmann, Andrea, Lindner, Susanne, Brandner, Martina, Gottlob, Irene

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Circulating tumor DNA in patients with colorectal adenomas: assessment of detectability and genetic heterogeneity per Myint, Ni Ni Moe, Verma, Ajay M., Fernandez-Garcia, Daniel, Sarmah, Panchali, Tarpey, Patrick S., Al-Aqbi, Saif Sattar, Cai, Hong, Trigg, Ricky, West, Kevin, Howells, Lynne M., Thomas, Anne, Brown, Karen, Guttery, David S., Singh, Baljit, Pringle, Howard J., McDermott, Ultan, Shaw, Jacqui A., Rufini, Alessandro

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