1. A candidate gene study of capecitabine-related toxicity in colorectal cancer identifies new toxicity variants at DPYD and a putative role for ENOSF1 rather than TYMS. Issue 1 (19th March 2014) Authors: Rosmarin, Dan; Palles, Claire; Pagnamenta, Alistair; Kaur, Kulvinder; Pita, Guillermo; Martin, Miguel; Domingo, Enric; Jones, Angela; Howarth, Kimberley; Freeman-Mills, Luke; Johnstone, Elaine; Wang, Haitao; Love, Sharon; Scudder, Claire; Julier, Patrick; Fernández-Rozadilla, Ceres; Ruiz-Ponte, C... Journal: Gut Issue: Volume 64:Issue 1(2015) Page Start: 111 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients. (30th November 2020) Authors: Feliubadaló, Lidia; Moles-Fernández, Alejandro; Santamariña-Pena, Marta; Sánchez, Alysson T; López-Novo, Anael; Porras, Luz-Marina; Blanco, Ana; Capellá, Gabriel; de la Hoya, Miguel; Molina, Ignacio J; Osorio, Ana; Pineda, Marta; Rueda, Daniel; de la Cruz, Xavier; Diez, Orland; Ruiz-Ponte, Clara;... Journal: Clinical chemistry Issue: Volume 67:Number 3(2021) Page Start: 518 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility. Issue 10 (13th March 2020) Authors: Arnau-Collell, Coral; Soares de Lima, Yasmin; Díaz-Gay, Marcos; Muñoz, Jenifer; Carballal, Sabela; Bonjoch, Laia; Moreira, Leticia; Lozano, Juan José; Ocaña, Teresa; Cuatrecasas, Miriam; Díaz de Bustamante, Aranzazu; Castells, Antoni; Capellà, Gabriel; Bujanda, Luis; Cubiella, Joaquin; Rodríguez-... Journal: Journal of medical genetics Issue: Volume 57:Issue 10(2020) Page Start: 677 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer. Issue 6 (25th August 2011) Authors: Pérez-Carbonell, Lucía; Ruiz-Ponte, Clara; Guarinos, Carla; Alenda, Cristina; Payá, Artemio; Brea, Alejandro; Egoavil, Cecilia M; Castillejo, Adela; Barberá, Victor M; Bessa, Xavier; Xicola, Rosa M; Rodríguez-Soler, María; Sánchez-Fortún, Cristina; Acame, Nuria; Castellví-Bel, Sergi; Piñol, Virgí... Journal: Gut Issue: Volume 61:Issue 6(2012) Page Start: 865 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Cumulative impact of common genetic variants and other risk factors on colorectal cancer risk in 42 103 individuals. Issue 6 (5th April 2012) Authors: Dunlop, Malcolm G; Tenesa, Albert; Farrington, Susan M; Ballereau, Stephane; Brewster, David H; Koessler, Thibaud; Pharoah, Paul; Schafmayer, Clemens; Hampe, Jochen; Völzke, Henry; Chang-Claude, Jenny; Hoffmeister, Michael; Brenner, Hermann; von Holst, Susanna; Picelli, Simone; Lindblom, Annika; ... Journal: Gut Issue: Volume 62:Issue 6(2013) Page Start: 871 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'Care for CMMRD' (C4CMMRD). Issue 6 (15th April 2014) Authors: Wimmer, Katharina; Kratz, Christian P; Vasen, Hans F A; Caron, Olivier; Colas, Chrystelle; Entz-Werle, Natacha; Gerdes, Anne-Marie; Goldberg, Yael; Ilencikova, Denisa; Muleris, Martine; Duval, Alex; Lavoine, Noémie; Ruiz-Ponte, Clara; Slavc, Irene; Burkhardt, Brigit; Brugieres, Laurence Journal: Journal of medical genetics Issue: Volume 51:Issue 6(2014) Page Start: 355 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Prevalence of MLH1 constitutional epimutations as a cause of Lynch syndrome in unselected versus selected consecutive series of patients with colorectal cancer. Issue 7 (23rd April 2015) Authors: Castillejo, Adela; Hernández-Illán, Eva; Rodriguez-Soler, María; Pérez-Carbonell, Lucía; Egoavil, Cecilia; Barberá, Victor M; Castillejo, María-Isabel; Guarinos, Carla; Martínez-de-Dueñas, Eduardo; Juan, María-Jose; Sánchez-Heras, Ana-Beatriz; García-Casado, Zaida; Ruiz-Ponte, Clara; Brea-Fernánd... Journal: Journal of medical genetics Issue: Volume 52:Issue 7(2015) Page Start: 498 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Rare germline copy number variants in colorectal cancer predisposition characterized by exome sequencing analysis. (20th January 2018) Authors: Franch-Expósito, Sebastià; Esteban-Jurado, Clara; Garre, Pilar; Quintanilla, Isabel; Duran-Sanchon, Saray; Díaz-Gay, Marcos; Bonjoch, Laia; Cuatrecasas, Miriam; Samper, Esther; Muñoz, Jenifer; Ocaña, Teresa; Carballal, Sabela; López-Cerón, María; Castells, Antoni; Vila-Casadesús, Maria; Derdak, S... Journal: Journal of genetics and genomics Issue: Volume 45:Number 1(2018) Page Start: 41 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Systematic meta-analyses, field synopsis and global assessment of the evidence of genetic association studies in colorectal cancer. Issue 8 (9th December 2019) Authors: Montazeri, Zahra; Li, Xue; Nyiraneza, Christine; Ma, Xiangyu; Timofeeva, Maria; Svinti, Victoria; Meng, Xiangrui; He, Yazhou; Bo, Yacong; Morgan, Samuel; Castellví-Bel, Sergi; Ruiz-Ponte, Clara; Fernández-Rozadilla, Ceres; Carracedo, Ángel; Castells, Antoni; Bishop, Timothy; Buchanan, Daniel; Jen... Journal: Gut Issue: Volume 69:Issue 8(2020) Page Start: 1460 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. The Asp1822Val variant of the APC gene is a common polymorphism without clinical implications. Issue 10 (1st October 2001) Authors: Ruiz-Ponte, Clara; Vega, Ana; Conde, Roberto; Barros, Francisco; Carracedo, Angel Journal: Journal of medical genetics Issue: Volume 38:Issue 10(2001) Page Start: e33 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗