1. 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) ↗
2. A Simple Cervicovaginal Epigenetic Test for Screening and Rapid Triage of Women With Suspected Endometrial Cancer: Validation in Several Cohort and Case/Control Sets. Issue 33 (20th November 2022) Authors: Herzog, Chiara; Marín, Fátima; Jones, Allison; Evans, Iona; Reisel, Daniel; Redl, Elisa; Schreiberhuber, Lena; Paytubi, Sonia; Pelegrina, Beatriz; Carmona, Álvaro; Peremiquel-Trillas, Paula; Frias-Gomez, Jon; Pineda, Marta; Brunet, Joan; Ponce, Jordi; Matias-Guiu, Xavier; de Sanjosé, Silvia; Alem... Journal: Journal of clinical oncology Issue: Volume 40:Issue 33(2022) Page Start: 3828 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Approaches to functionally validate candidate genetic variants involved in colorectal cancer predisposition. (October 2019) Authors: Bonjoch, Laia; Mur, Pilar; Arnau-Collell, Coral; Vargas-Parra, Gardenia; Shamloo, Bahar; Franch-Expósito, Sebastià; Pineda, Marta; Capellà, Gabriel; Erman, Batu; Castellví-Bel, Sergi Journal: Molecular aspects of medicine Issue: Volume 69(2019) Page Start: 27 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database. Issue 3 (9th December 2015) Authors: Møller, Pål; Seppälä, Toni; Bernstein, Inge; Holinski-Feder, Elke; Sala, Paola; Evans, D Gareth; Lindblom, Annika; Macrae, Finlay; Blanco, Ignacio; Sijmons, Rolf; Jeffries, Jacqueline; Vasen, Hans; Burn, John; Nakken, Sigve; Hovig, Eivind; Rødland, Einar Andreas; Tharmaratnam, Kukatharmini; de Vo... Journal: Gut Issue: Volume 66:Issue 3(2017) Page Start: 464 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database. Issue 7 (28th July 2017) Authors: Møller, Pål; Seppälä, Toni T; Bernstein, Inge; Holinski-Feder, Elke; Sala, Paulo; Gareth Evans, D; Lindblom, Annika; Macrae, Finlay; Blanco, Ignacio; Sijmons, Rolf H; Jeffries, Jacqueline; Vasen, Hans F A; Burn, John; Nakken, Sigve; Hovig, Eivind; Rødland, Einar Andreas; Tharmaratnam, Kukatharmin... Journal: Gut Issue: Volume 67:Issue 7(2018) Page Start: 1306 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Comprehensive analysis and ACMG‐based classification of CHEK2 variants in hereditary cancer patients. Issue 12 (14th October 2020) Authors: Vargas‐Parra, Gardenia; del Valle, Jesús; Rofes, Paula; Gausachs, Mireia; Stradella, Agostina; Moreno‐Cabrera, José M.; Velasco, Angela; Tornero, Eva; Menéndez, Mireia; Muñoz, Xavier; Iglesias, Silvia; López‐Doriga, Adriana; Azuara, Daniel; Campos, Olga; Cuesta, Raquel; Darder, Esther; de Cid, Ra... Journal: Human mutation Issue: Volume 41:Issue 12(2020) Page Start: 2128 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Comprehensive Functional Assessment of MLH1 Variants of Unknown Significance. Issue 1 (27th November 2012) Authors: Borràs, Ester; Pineda, Marta; Brieger, Angela; Hinrichsen, Inga; Gómez, Carolina; Navarro, Matilde; Balmaña, Judit; Ramón y Cajal, Teresa; Torres, Asunción; Brunet, Joan; Blanco, Ignacio; Plotz, Guido; Lázaro, Conxi; Capellá, Gabriel Journal: Human mutation Issue: Volume 34:Issue 1(2013:Jan.) Page Start: 274 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Defining a mutational signature for endometrial cancer screening and early detection. (August 2019) Authors: Costas, Laura; Palomero, Luis; Benavente, Yolanda; Guardiola, Magdalena; Frias-Gomez, Jon; Pavón, Miquel Ángel; Climent, Maite; Martinez, José Manuel; Barahona, Marc; Salinas, Mónica; Pineda, Marta; Bianchi, Ilaria; Reventós, Jaume; Capellà, Gabriel; Diaz, Mireia; Vidal, August; Piulats, Josep Ma... Journal: Cancer epidemiology Issue: Volume 61(2019:Aug.) Page Start: 129 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?. Issue 8 (22nd December 2018) Authors: Stradella, Agostina; del Valle, Jesús; Rofes, Paula; Feliubadaló, Lídia; Grau Garces, Èlia; Velasco, Àngela; González, Sara; Vargas, Gardenia; Izquierdo, Ángel; Campos, Olga; Tornero, Eva; Navarro, Matilde; Balmaña-Gelpi, Judith; Capellá, Gabriel; Pineda, Marta; Brunet, Joan; Lázaro, Conxi Journal: Journal of medical genetics Issue: Volume 56:Issue 8(2019) Page Start: 521 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Elucidating the molecular basis of MSH2‐deficient tumors by combined germline and somatic analysis. Issue 7 (3rd July 2017) Authors: Vargas‐Parra, Gardenia M.; González‐Acosta, Maribel; Thompson, Bryony A.; Gómez, Carolina; Fernández, Anna; Dámaso, Estela; Pons, Tirso; Morak, Monika; del Valle, Jesús; Iglesias, Silvia; Velasco, Àngela; Solanes, Ares; Sanjuan, Xavier; Padilla, Natàlia; de la Cruz, Xavier; Valencia, Alfonso; Hol... Journal: International journal of cancer Issue: Volume 141:Issue 7(2017:Oct. 01) Page Start: 1365 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗