1. Chromosome fragility in the buccal epithelium in patients with Fanconi anemia. (1st March 2020) Authors: Ramírez, María José; Minguillón, Jordi; Loveless, Sara; Lake, Kelly; Carrasco, Estela; Stjepanovic, Neda; Balmaña, Judith; Català, Albert; Mehta, Parinda A.; Surrallés, Jordi Journal: Cancer letters Issue: Volume 472(2020) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Development of a mouse model for spontaneous oral squamous cell carcinoma in Fanconi anemia. (November 2022) Authors: Errazquin, Ricardo; Page, Angustias; Suñol, Anna; Segrelles, Carmen; Carrasco, Estela; Peral, Jorge; Garrido-Aranda, Alicia; Del Marro, Sonia; Ortiz, Jessica; Lorz, Corina; Minguillon, Jordi; Surralles, Jordi; Belendez, Cristina; Alvarez, Martina; Balmaña, Judith; Bravo, Ana; Ramirez, Angel; Garc... Journal: Oral oncology Issue: Volume 134(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. Issue 9 (13th September 2019) Authors: Parsons, Michael T.; Tudini, Emma; Li, Hongyan; Hahnen, Eric; Wappenschmidt, Barbara; Feliubadaló, Lidia; Aalfs, Cora M.; Agata, Simona; Aittomäki, Kristiina; Alducci, Elisa; Alonso‐Cerezo, María Concepción; Arnold, Norbert; Auber, Bernd; Austin, Rachel; Azzollini, Jacopo; Balmaña, Judith; Barbie... Editors: Moult, John; Brenner, Steven E. Other Names: Karchin Rachel guestEditor.; Pal Lipika R. specialEditor. Journal: Human mutation Issue: Volume 40:Issue 9(2019) Page Start: 1557 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Natural gene therapy by reverse mosaicism leads to improved hematology in Fanconi anemia patients. Issue 8 (25th May 2021) Authors: Ramírez, María José; Pujol, Roser; Trujillo‐Quintero, Juan Pablo; Minguillón, Jordi; Bogliolo, Massimo; Río, Paula; Navarro, Susana; Casado, José A.; Badell, Isabel; Carrasco, Estela; Balmaña, Judith; Català, Albert; Sevilla, Julián; Beléndez, Cristina; Argilés, Bienvenida; López, Mónica; Díaz de... Journal: American journal of hematology Issue: Volume 96:Issue 8(2021) Page Start: 989 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies. Issue 4 (5th October 2019) Authors: Bogliolo, Massimo; Pujol, Roser; Aza-Carmona, Miriam; Muñoz-Subirana, Núria; Rodriguez-Santiago, Benjamin; Casado, José Antonio; Rio, Paula; Bauser, Christopher; Reina-Castillón, Judith; Lopez-Sanchez, Marcos; Gonzalez-Quereda, Lidia; Gallano, Pia; Catalá, Albert; Ruiz-Llobet, Ana; Badell, Isabel... Journal: Journal of medical genetics Issue: Volume 57:Issue 4(2020) Page Start: 258 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Screening of BRCA1/2 deep intronic regions by targeted gene sequencing identifies the first germline BRCA1 variant causing pseudoexon activation in a patient with breast/ovarian cancer. Issue 2 (24th November 2018) Authors: Montalban, Gemma; Bonache, Sandra; Moles-Fernández, Alejandro; Gisbert-Beamud, Alexandra; Tenés, Anna; Bach, Vanessa; Carrasco, Estela; López-Fernández, Adrià; Stjepanovic, Neda; Balmaña, Judith; Diez, Orland; Gutiérrez-Enríquez, Sara Journal: Journal of medical genetics Issue: Volume 56:Issue 2(2019) Page Start: 63 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗