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. Candidate genes for hereditary colorectal cancer: Mutational screening and systematic review. Issue 9 (28th July 2020) Authors: Belhadj, Sami; Terradas, Mariona; Munoz‐Torres, Pau M.; Aiza, Gemma; Navarro, Matilde; Capellá, Gabriel; Valle, Laura Journal: Human mutation Issue: Volume 41:Issue 9(2020) Page Start: 1563 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 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) ↗
4. Comprehensive establishment and characterization of orthoxenograft mouse models of malignant peripheral nerve sheath tumors for personalized medicine. Issue 5 (25th March 2015) Authors: Castellsagué, Joan; Gel, Bernat; Fernández‐Rodríguez, Juana; Llatjós, Roger; Blanco, Ignacio; Benavente, Yolanda; Pérez‐Sidelnikova, Diana; García‐del Muro, Javier; Viñals, Joan Maria; Vidal, August; Valdés‐Mas, Rafael; Terribas, Ernest; López‐Doriga, Adriana; Pujana, Miguel Angel; Capellá, Gabri... Journal: EMBO molecular medicine Issue: Volume 7:Issue 5(2015:May) Page Start: 608 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗
6. Contribution to colonic polyposis of recently proposed predisposing genes and assessment of the prevalence of NTHL1‐ and MSH3‐associated polyposes. Issue 11 (29th July 2019) Authors: Terradas, Mariona; Munoz‐Torres, Pau M.; Belhadj, Sami; Aiza, Gemma; Navarro, Matilde; Brunet, Joan; Capellá, Gabriel; Valle, Laura Journal: Human mutation Issue: Volume 40:Issue 11(2019) Page Start: 1910 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. 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) ↗
8. 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) ↗
9. Evidence suggests that germline RNF43 mutations are a rare cause of serrated polyposis. Issue 12 (12th January 2018) Authors: Quintana, Isabel; Mejías-Luque, Raquel; Terradas, Mariona; Navarro, Matilde; Piñol, Virginia; Mur, Pilar; Belhadj, Sami; Grau, Elia; Darder, Esther; Solanes, Ares; Brunet, Joan; Capellá, Gabriel; Gerhard, Markus; Valle, Laura Journal: Gut Issue: Volume 67:Issue 12(2018) Page Start: 2230 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Exome sequencing identifies MUTYH mutations in a family with colorectal cancer and an atypical phenotype. Issue 2 (1st April 2014) Authors: Seguí, Nuria; Navarro, Matilde; Pineda, Marta; Köger, Nicole; Bellido, Fernando; González, Sara; Campos, Olga; Iglesias, Silvia; Valdés-Mas, Rafael; López-Doriga, Adriana; Gut, Marta; Blanco, Ignacio; Lázaro, Conxi; Capellá, Gabriel; Puente, Xose S; Plotz, Guido; Valle, Laura Journal: Gut Issue: Volume 64:Issue 2(2015) Page Start: 355 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗