المؤلفون: Bishop, Michelle, Vedi, Aditi, Bowdin, Sarah, Armstrong, Ruth, Bartram, Jack, Bentley, David, Ross, Mark, Hook, C Elizabeth, Yin Chung, Brian Hon, Moss, Parker, Rowitch, David H, Tarpey, Patrick, Behjati, Sam, Murray, Matthew J

مصطلحات موضوعية: Accessibility, Barrier, Cancer, Paediatrics, Turnaround time, WGS, Whole genome sequencing, Humans, Child, Medical Oncology, Pediatrics, United Kingdom, Hematology, Neoplasms, England, State Medicine, Ireland

وصف الملف: application/pdf

Relation: https://www.repository.cam.ac.uk/handle/1810/375097; https://doi.org/10.17863/CAM.112902

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/375097
https://doi.org/10.17863/CAM.112902

المؤلفون: Mahmood, Shathar, Leiter, Sarah M, Phyu, Poe, Craven, Claudia, Horan, Gail, Gains, Jennifer, Briggs, Mayen, Blanco, Esther, Behjati, Sam, Watkins, James, Tadross, John A, Roberts, Thomas, Trotman, Jamie, Tarpey, Patrick, Armstrong, Ruth, Murray, Matthew J

مصطلحات موضوعية: 3215 Reproductive Medicine, 32 Biomedical and Clinical Sciences, Pediatric, Rare Diseases, Human Genome, Biotechnology, Congenital Structural Anomalies, Intellectual and Developmental Disabilities (IDD), Genetics, Brain Disorders

وصف الملف: application/pdf

Relation: https://www.repository.cam.ac.uk/handle/1810/374063; https://doi.org/10.17863/CAM.112269

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/374063
https://doi.org/10.17863/CAM.112269

المؤلفون: Hodder, Angus, Leiter, Sarah M, Kennedy, Jonathan, Addy, Dilys, Ahmed, Munaza, Ajithkumar, Thankamma, Allinson, Kieren, Ancliff, Phil, Bailey, Shivani, Barnard, Gemma, Burke, GA Amos, Burns, Charlotte, Cano-Flanagan, Julian, Chalker, Jane, Coleman, Nicholas, Cheng, Danny, Clinch, Yasmin, Dryden, Caryl, Ghorashian, Sara, Griffin, Blanche, Horan, Gail, Hubank, Michael, May, Phillippa, McDerra, Joanna, Nagrecha, Rajvi, Nicholson, James, O'Connor, David, Pavasovic, Vesna, Quaegebeur, Annelies, Rao, Anupama, Roberts, Thomas, Samarasinghe, Sujith, Stasevich, Iryna, Tadross, John A, Trayers, Claire, Trotman, Jamie, Vora, Ajay, Watkins, James, Chitty, Lyn S, Bowdin, Sarah, Armstrong, Ruth, Murray, Matthew J, Hook, Catherine E, Tarpey, Patrick, Vedi, Aditi, Bartram, Jack, Behjati, Sam

مصطلحات موضوعية: Humans, Neoplasms, Whole Genome Sequencing, Child, Male, Preschool, Female, Adolescent, Infant, Genetic Testing, Genome, Human, Genomics, Newborn

وصف الملف: application/zip; application/pdf; text/xml

Relation: https://www.repository.cam.ac.uk/handle/1810/371498

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/371498

المؤلفون: Hmeljak, Julija, Sanchez-Vega, Francisco, Hoadley, Katherine A, Shih, Juliann, Stewart, Chip, Heiman, David, Tarpey, Patrick, Danilova, Ludmila, Drill, Esther, Gibb, Ewan A, Bowlby, Reanne, Kanchi, Rupa, Osmanbeyoglu, Hatice U, Sekido, Yoshitaka, Takeshita, Jumpei, Newton, Yulia, Graim, Kiley, Gupta, Manaswi, Gay, Carl M, Diao, Lixia, Gibbs, David L, Thorsson, Vesteinn, Iype, Lisa, Kantheti, Havish, Severson, David T, Ravegnini, Gloria, Desmeules, Patrice, Jungbluth, Achim A, Travis, William D, Dacic, Sanja, Chirieac, Lucian R, Galateau-Sallé, Françoise, Fujimoto, Junya, Husain, Aliya N, Silveira, Henrique C, Rusch, Valerie W, Rintoul, Robert C, Pass, Harvey, Kindler, Hedy, Zauderer, Marjorie G, Kwiatkowski, David J, Bueno, Raphael, Tsao, Anne S, Creaney, Jenette, Lichtenberg, Tara, Leraas, Kristen, Bowen, Jay, Felau, Ina, Zenklusen, Jean Claude, Akbani, Rehan, Cherniack, Andrew D, Byers, Lauren A, Noble, Michael S, Fletcher, Jonathan A, Robertson, A Gordon, Shen, Ronglai, Aburatani, Hiroyuki, Robinson, Bruce W, Campbell, Peter, Ladanyi, Marc, Ally, Adrian, Anur, Pavana, Armenia, Joshua, Auman, J Todd, Balasundaram, Miruna, Balu, Saianand, Baylin, Stephen B, Becich, Michael, Behrens, Carmen, Beroukhim, Rameen, Bielski, Craig, Bodenheimer, Tom, Bootwalla, Moiz S, Brooks, Denise, Byers, Lauren Averett, Cárcano, Flávio M, Carlsen, Rebecca, Carvalho, Andre L, Cheung, Dorothy, Chirieac, Lucian, Cho, Juok, Chuah, Eric, Chudamani, Sudha, Cibulskis, Carrie, Cope, Leslie, Crain, Daniel, Curley, Erin, Rienzo, Assunta De, DeFreitas, Timothy, Demchok, John A, Dhalla, Noreen

المصدر: Cancer Discovery. 8(12)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Immunology, Cancer, Human Genome, Lung Cancer, Lung, Rare Diseases, Genetics, Cancer Genomics, Biotechnology, 2.1 Biological and endogenous factors, Good Health and Well Being, Aged, Biomarkers, Tumor, Female, Histone-Lysine N-Methyltransferase, Humans, Kaplan-Meier Estimate, Lung Neoplasms, Male, Mesothelioma, Middle Aged, Mutation, Pleural Neoplasms, Prognosis, Protein Methyltransferases, Tumor Suppressor Proteins, Ubiquitin Thiolesterase, TCGA Research Network, Biochemistry and cell biology, Oncology and carcinogenesis

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0515m295
https://escholarship.org/content/qt0515m295/qt0515m295.pdf

المؤلفون: Wang, Jiyong, Foroutan, Aidin, Richardson, Ellen, Skinner, Steven A., Reilly, Jack, Kerkhof, Jennifer, Curry, Cynthia J., Tarpey, Patrick S., Robertson, Stephen P., Maystadt, Isabelle, Keren, Boris, Dixon, Joanne W., Skinner, Cindy, Stapleton, Rachel, Ruaud, Lyse, Gumus, Evren, Lakeman, Phillis, Alders, Mariëlle, Tedder, Matthew L., Schwartz, Charles E., Friez, Michael J., Sadikovic, Bekim, Stevenson, Roger E.

المصدر: Wang , J , Foroutan , A , Richardson , E , Skinner , S A , Reilly , J , Kerkhof , J , Curry , C J , Tarpey , P S , Robertson , S P , Maystadt , I , Keren , B , Dixon , J W , Skinner , C , Stapleton , R , Ruaud , L , Gumus , E , Lakeman , P , Alders , M , Tedder , M L , Schwartz , C E , Friez , M J , Sadikovic , B & Stevenson , R ....

الاتاحة: https://research.vumc.nl/en/publications/997b99b3-f07d-4718-b2bd-8befa9f38299
https://doi.org/10.1038/s41431-023-01499-2
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85178482395&origin=inward
https://www.ncbi.nlm.nih.gov/pubmed/38040915

المؤلفون: Chadda, Karan R, Solano-Páez, Palma, Khan, Sara, Llempén-López, Mercedes, Phyu, Poe, Horan, Gail, Trotman, Jamie, Tarpey, Patrick, Erker, Craig, Lindsay, Holly, Addy, Dilys, Jacques, Thomas S, Allinson, Kieren, Pizer, Barry, Huang, Annie, Murray, Matthew J

مصطلحات موضوعية: C19MC, DICER1, ETMR, Embryonal tumor with multilayered rosettes, LIN28A, chemotherapy, fluorescence in situ hybridization, immunohistochemistry, radiotherapy, whole-genome sequencing

وصف الملف: text/xml; application/zip; application/pdf

Relation: https://www.repository.cam.ac.uk/handle/1810/362675

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/362675

المؤلفون: De Noon, Solange, Piggott, Robert, Trotman, Jamie, Tadross, John A, Fittall, Matthew, Hughes, Debbie, Ye, Hongtao, Munasinghe, Emani, Murray, Matthew, Tirabosco, Roberto, Amary, Fernanda, Coleman, Nicholas, Watkins, James, Hubank, Michael, Tarpey, Patrick, Behjati, Sam, Flanagan, Adrienne M

المصدر: The Journal of Pathology , 259 (2) pp. 119-124. (2023)

مصطلحات موضوعية: FOSL1, FOS, desmoplastic fibroblastoma, targeted sequencing, gene rearrangement

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10161168/1/Flanagan_The%20Journal%20of%20Pathology%20-%202022%20-%20De%20Noon%20-%20Recurrent%20FOSL1%20rearrangements%20in%20desmoplastic%20fibroblastoma.pdf; https://discovery.ucl.ac.uk/id/eprint/10161168/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10161168/1/Flanagan_The%20Journal%20of%20Pathology%20-%202022%20-%20De%20Noon%20-%20Recurrent%20FOSL1%20rearrangements%20in%20desmoplastic%20fibroblastoma.pdf
https://discovery.ucl.ac.uk/id/eprint/10161168/

المؤلفون: Hare, Lucy, Trotman, Jamie, Tarpey, Patrick, Hook, Elizabeth, Burke, G. A. Amos

المصدر: Pediatric Blood & Cancer ; volume 71, issue 3 ; ISSN 1545-5009 1545-5017

الاتاحة: http://dx.doi.org/10.1002/pbc.30810
https://onlinelibrary.wiley.com/doi/pdf/10.1002/pbc.30810

المؤلفون: Green, Rebecca, Ahmed, Adeeb, Fleming, Ben, Long, Anna-May, Behjati, Sam, Trotman, Jamie, Tarpey, Patrick, Nicholson, James C., Coleman, Nicholas, Elizabeth Hook, C., Murray, Matthew J.

المصدر: Pediatric and Developmental Pathology ; volume 27, issue 3, page 260-265 ; ISSN 1093-5266 1615-5742

الاتاحة: http://dx.doi.org/10.1177/10935266231213467
https://journals.sagepub.com/doi/pdf/10.1177/10935266231213467
https://journals.sagepub.com/doi/full-xml/10.1177/10935266231213467

المؤلفون: Tarpey, Patrick S, Behjati, Sam, Young, Matthew D, Martincorena, Inigo, Alexandrov, Ludmil B, Farndon, Sarah J, Guzzo, Charlotte, Hardy, Claire, Latimer, Calli, Butler, Adam P, Teague, Jon W, Shlien, Adam, Futreal, P Andrew, Shah, Sohrab, Bashashati, Ali, Jamshidi, Farzad, Nielsen, Torsten O, Huntsman, David, Baumhoer, Daniel, Brandner, Sebastian, Wunder, Jay, Dickson, Brendan, Cogswell, Patricia, Sommer, Josh, Phillips, Joanna J, Amary, M Fernanda, Tirabosco, Roberto, Pillay, Nischalan, Yip, Stephen, Stratton, Michael R, Flanagan, Adrienne M, Campbell, Peter J

المصدر: Nature communications. 8(1)

مصطلحات موضوعية: Cell Line, Tumor, Humans, Chordoma, Bone Neoplasms, T-Box Domain Proteins, Fetal Proteins, Vesicular Transport Proteins, Case-Control Studies, Gene Duplication, Mutation, Polymorphism, Single Nucleotide, Phosphatidylinositol 3-Kinases, Class I Phosphatidylinositol 3-Kinases, Cell Line, Tumor, Polymorphism, Single Nucleotide

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9fq592kc

المؤلفون: Watkins, James A., Trotman, Jamie, Tadross, John A., Harrington, Jennifer, Hatcher, Helen, Horan, Gail, Prewett, Sarah, Wong, Han H., McDonald, Sarah, Tarpey, Patrick, Roberts, Thomas, Su, Jing, Tischkowitz, Marc, Armstrong, Ruth, Amary, Fernanda, Sosinsky, Alona

المصدر: British Journal of Cancer; Sep2024, Vol. 131 Issue 5, p860-869, 10p

المؤلفون: Watkins, James, Jackson, Edward, Tarpey, Patrick, Tadross, John A., Trotman, Jamie, O'Dea, Emily

المصدر: Journal of Cutaneous Pathology; Sep2024, Vol. 51 Issue 9, p662-665, 4p

المؤلفون: Coorens, Tim H. H., Treger, Taryn D., Al-Saadi, Reem, Moore, Luiza, Tran, Maxine G. B., Mitchell, Thomas J., Tugnait, Suzanne, Thevanesan, Christine, Young, Matthew D., Oliver, Thomas R. W., Oostveen, Minou, Collord, Grace, Tarpey, Patrick S., Cagan, Alex, Hooks, Yvette, Brougham, Mark, Reynolds, Ben C., Barone, Giuseppe, Anderson, John, Jorgensen, Mette, Burke, G. A. Amos, Visser, Johannes, Nicholson, James C., Smeulders, Naima, Mushtaq, Imran, Stewart, Grant D., Campbell, Peter J., Wedge, David C., Martincorena, Iñigo, Rampling, Dyanne, Hook, Liz, Warren, Anne Y., Coleman, Nicholas, Chowdhury, Tanzina, Sebire, Neil, Drost, Jarno, Saeb-Parsy, Kourosh, Stratton, Michael R., Straathof, Karin, Pritchard-Jones, Kathy, Behjati, Sam

المصدر: Science, 2019 Dec 01. 366(6470), 1247-1251.

URL الوصول: https://www.jstor.org/stable/26861155

المؤلفون: Trotman, Jamie, Armstrong, Ruth, Firth, Helen, Trayers, Claire, Watkins, James, Allinson, Kieren, Jacques, Thomas S, Nicholson, James C, Burke, GA Amos, Genomics England Research Consortium, Behjati, Sam, Murray, Matthew J, Hook, Catherine E, Tarpey, Patrick

مصطلحات موضوعية: Child, Feasibility Studies, Germ-Line Mutation, Humans, Neoplasms, State Medicine, Whole Genome Sequencing

وصف الملف: application/pdf; application/zip; text/xml

Relation: https://www.repository.cam.ac.uk/handle/1810/339081

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/339081
https://doi.org/10.17863/CAM.86492

المؤلفون: Briggs, Mayen, Das, Anirban, Firth, Helen, Levine, Adrian, Sánchez‐Ramírez, Santiago, Negm, Logine, Ercan, Ayse B., Chung, Jill, Bianchi, Vanessa, Jalloh, Ibrahim, Phyu, Poe, Thorp, Nicky, Grundy, Richard G., Hawkins, Cynthia, Trotman, Jamie, Tarpey, Patrick, Tabori, Uri, Allinson, Kieren, Murray, Matthew J.

المساهمون: NIHR Cambridge Biomedical Research Centre, National Institute for Health and Care Research, Heart of England NHS Foundation Trust, Wellcome Trust, Cancer Research UK, Medical Research Council Canada

المصدر: Neuropathology and Applied Neurobiology ; volume 49, issue 1 ; ISSN 0305-1846 1365-2990

الاتاحة: http://dx.doi.org/10.1111/nan.12862
https://onlinelibrary.wiley.com/doi/pdf/10.1111/nan.12862
https://onlinelibrary.wiley.com/doi/full-xml/10.1111/nan.12862

المؤلفون: Urquhart, Calum, Fleming, Ben, Harper, Ines, Aloj, Luigi, Armstrong, Ruth, Hook, Liz, Long, Anna-May, Jackson, Claire, Gallagher, Ferdia A., McLean, Mary A., Tarpey, Patrick, Kosmoliaptsis, Vasilis, Nicholson, James, Hendriks, A. Emile J., Casey, Ruth T.

المصدر: Frontiers in Endocrinology ; volume 13 ; ISSN 1664-2392

الاتاحة: http://dx.doi.org/10.3389/fendo.2022.1066208
https://www.frontiersin.org/articles/10.3389/fendo.2022.1066208/full

المؤلفون: Alioto, Tyler S, Buchhalter, Ivo, Derdak, Sophia, Hutter, Barbara, Eldridge, Matthew D, Hovig, Eivind, Heisler, Lawrence E, Beck, Timothy A, Simpson, Jared T, Tonon, Laurie, Sertier, Anne-Sophie, Patch, Ann-Marie, Jäger, Natalie, Ginsbach, Philip, Drews, Ruben, Paramasivam, Nagarajan, Kabbe, Rolf, Chotewutmontri, Sasithorn, Diessl, Nicolle, Previti, Christopher, Schmidt, Sabine, Brors, Benedikt, Feuerbach, Lars, Heinold, Michael, Gröbner, Susanne, Korshunov, Andrey, Tarpey, Patrick S, Butler, Adam P, Hinton, Jonathan, Jones, David, Menzies, Andrew, Raine, Keiran, Shepherd, Rebecca, Stebbings, Lucy, Teague, Jon W, Ribeca, Paolo, Giner, Francesc Castro, Beltran, Sergi, Raineri, Emanuele, Dabad, Marc, Heath, Simon C, Gut, Marta, Denroche, Robert E, Harding, Nicholas J, Yamaguchi, Takafumi N, Fujimoto, Akihiro, Nakagawa, Hidewaki, Quesada, Víctor, Valdés-Mas, Rafael, Nakken, Sigve, Vodák, Daniel, Bower, Lawrence, Lynch, Andrew G, Anderson, Charlotte L, Waddell, Nicola, Pearson, John V, Grimmond, Sean M, Peto, Myron, Spellman, Paul, He, Minghui, Kandoth, Cyriac, Lee, Semin, Zhang, John, Létourneau, Louis, Ma, Singer, Seth, Sahil, Torrents, David, Xi, Liu, Wheeler, David A, López-Otín, Carlos, Campo, Elías, Campbell, Peter J, Boutros, Paul C, Puente, Xose S, Gerhard, Daniela S, Pfister, Stefan M, McPherson, John D, Hudson, Thomas J, Schlesner, Matthias, Lichter, Peter, Eils, Roland, Jones, David TW, Gut, Ivo G

المصدر: Nature communications. 6(1)

مصطلحات موضوعية: Humans, Medulloblastoma, Mutation, Genome, Human, Leukemia, Lymphoid, High-Throughput Nucleotide Sequencing, Genome, Human, Leukemia, Lymphoid

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8jq643sj

المؤلفون: Ju, Young Seok, Tubio, Jose MC, Mifsud, William, Fu, Beiyuan, Davies, Helen R, Ramakrishna, Manasa, Li, Yilong, Yates, Lucy, Gundem, Gunes, Tarpey, Patrick S, Behjati, Sam, Papaemmanuil, Elli, Martin, Sancha, Fullam, Anthony, Gerstung, Moritz, Group, ICGC Prostate Cancer Working, Group, ICGC Bone Cancer Working, Group, ICGC Breast Cancer Working, Nangalia, Jyoti, Green, Anthony R, Caldas, Carlos, Borg, Åke, Tutt, Andrew, Lee, Ming Ta Michael, Veer, Laura J van't, Tan, Benita KT, Aparicio, Samuel, Span, Paul N, Martens, John WM, Knappskog, Stian, Vincent-Salomon, Anne, Børresen-Dale, Anne-Lise, Eyfjörd, Jórunn Erla, Flanagan, Adrienne M, Foster, Christopher, Neal, David E, Cooper, Colin, Eeles, Rosalind, Lakhani, Sunil R, Desmedt, Christine, Thomas, Gilles, Richardson, Andrea L, Purdie, Colin A, Thompson, Alastair M, McDermott, Ultan, Yang, Fengtang, Nik-Zainal, Serena, Campbell, Peter J, Stratton, Michael R

المصدر: Genome Research. 25(6)

مصطلحات موضوعية: Biochemistry and Cell Biology, Genetics, Biological Sciences, Stem Cell Research - Nonembryonic - Human, Human Genome, Stem Cell Research, Cancer, 1.1 Normal biological development and functioning, Underpinning research, Aetiology, 2.1 Biological and endogenous factors, Generic health relevance, Amino Acid Sequence, Cell Line, Tumor, Cell Nucleus, Chromosomes, DNA Copy Number Variations, DNA End-Joining Repair, DNA Replication, DNA, Mitochondrial, Genome, Human, Genome, Mitochondrial, HeLa Cells, Humans, In Situ Hybridization, Fluorescence, Mitochondria, Molecular Sequence Data, Neoplasms, Reproducibility of Results, Sequence Analysis, DNA, ICGC Prostate Cancer Working Group, ICGC Bone Cancer Working Group, ICGC Breast Cancer Working Group, Hela Cells, Medical and Health Sciences, Bioinformatics

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0t71011t
https://escholarship.org/content/qt0t71011t/qt0t71011t.pdf

المؤلفون: Shlien, Adam, Raine, Keiran, Fuligni, Fabio, Arnold, Roland, Nik-Zainal, Serena, Dronov, Serge, Mamanova, Lira, Rosic, Andrej, Ju, Young Seok, Cooke, Susanna L., Ramakrishna, Manasa, Papaemmanuil, Elli, Davies, Helen R., Tarpey, Patrick S., Van Loo, Peter, Wedge, David C., Jones, David R., Martin, Sancha, Marshall, John, Anderson, Elizabeth, Hardy, Claire, Barbashina, Violetta, Aparicio, Samuel A J R, Sauer, Torill, Garred, Øystein, Vincent-Salomon, Anne, Mariani, Odette, Boyault, Sandrine, Fatima, Aquila, Langerød, Anita, Borg, Åke, Thomas, Gilles, Richardson, Andrea L., Børresen-Dale, Anne Lise, Polyak, Kornelia, Stratton, Michael R., Campbell, Peter J.

المصدر: Cell Reports BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation. 16(7):2032-2046

مصطلحات موضوعية: Medicin och hälsovetenskap, Klinisk medicin, Cancer och onkologi, Medical and Health Sciences, Clinical Medicine, Cancer and Oncology

URL الوصول: https://lup.lub.lu.se/record/79f2cada-6cc2-4680-85c7-d0f995e56dc1
http://dx.doi.org/10.1016/j.celrep.2016.07.028

المؤلفون: Watkins, James A, Trotman, Jamie, Tadross, John A, Harrington, Jennifer, Hatcher, Helen, Horan, Gail, Prewett, Sarah, Wong, Han H, McDonald, Sarah, Tarpey, Patrick, Roberts, Thomas, Su, Jing, Tischkowitz, Marc, Armstrong, Ruth, Amary, Fernanda, Sosinsky, Alona

مصطلحات موضوعية: Humans, Sarcoma, Whole Genome Sequencing, Male, Female, Middle Aged, Adult, Aged, Young Adult, Adolescent, Germ-Line Mutation, 80 and over, DNA Copy Number Variations, Mutation

وصف الملف: text/xml; application/zip; application/pdf

Relation: https://www.repository.cam.ac.uk/handle/1810/373230

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/373230