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 decade of RAD51C and RAD51D germline variants in cancer. Issue 3 (30th December 2021) Authors: Boni, Jacopo; Idani, Aida; Roca, Carla; Feliubadaló, Lidia; Tomiak, Eva; Weber, Evan; Foulkes, William D.; Orthwein, Alexandre; El Haffaf, Zaki; Lazaro, Conxi; Rivera, Barbara Journal: Human mutation Issue: Volume 43:Issue 3(2022) Page Start: 285 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Assessment of ovarian reserve and reproductive outcomes in BRCA1 or BRCA2 mutation carriers. Issue 1 (27th November 2019) Authors: Ponce, Jordi; Fernandez-Gonzalez, Sergi; Calvo, Iris; Climent, Maite; Peñafiel, Judith; Feliubadaló, Lidia; Teulé, Alex; Lázaro, Conxi; Brunet, Joan Maria; Candás-Estébanez, Beatriz; Durán Retamal, Montserrat Journal: International journal of gynecological cancer Issue: Volume 30:Issue 1(2020) Page Start: 83 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores. (28th July 2021) Authors: Barnes, Daniel R; Silvestri, Valentina; Leslie, Goska; McGuffog, Lesley; Dennis, Joe; Yang, Xin; Adlard, Julian; Agnarsson, Bjarni A; Ahmed, Munaza; Aittomäki, Kristiina; Andrulis, Irene L; Arason, Adalgeir; Arnold, Norbert; Auber, Bernd; Azzollini, Jacopo; Balmaña, Judith; Barkardottir, Rosa B; ... Journal: Journal of the National Cancer Institute Issue: Volume 114:Number 1(2022) Page Start: 109 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. ERCC3, a new ovarian cancer susceptibility gene?. (December 2020) Authors: Stradella, Agostina; del Valle, Jesús; Rofes, Paula; Vargas-Parra, Gardenia; Salinas, Mónica; González, Sara; Montes, Eva; López-Doriga, Adriana; Gómez, Carolina; de Cid, Rafael; Darder, Esther; Teulé, Alex; Solanes, Ares; Munté, Elisabet; Capellà, Gabriel; Pineda, Marta; Feliubadaló, Lidia; Brun... Journal: European journal of cancer Issue: Volume 141(2020) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study. (12th October 2018) Authors: Qian, Frank; Wang, Shengfeng; Mitchell, Jonathan; McGuffog, Lesley; Barrowdale, Daniel; Leslie, Goska; Oosterwijk, Jan C; Chung, Wendy K; Evans, D Gareth; Engel, Christoph; Kast, Karin; Aalfs, Cora M; Adank, Muriel A; Adlard, Julian; Agnarsson, Bjarni A; Aittomäki, Kristiina; Alducci, Elisa; Andr... Journal: Journal of the National Cancer Institute Issue: Volume 111:Number 4(2019) Page Start: 350 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. 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) ↗
8. Mutational spectrum in a worldwide study of 29, 700 families with BRCA1 or BRCA2 mutations. Issue 5 (12th March 2018) Authors: Rebbeck, Timothy R.; Friebel, Tara M.; Friedman, Eitan; Hamann, Ute; Huo, Dezheng; Kwong, Ava; Olah, Edith; Olopade, Olufunmilayo I.; Solano, Angela R.; Teo, Soo‐Hwang; Thomassen, Mads; Weitzel, Jeffrey N.; Chan, TL; Couch, Fergus J.; Goldgar, David E.; Kruse, Torben A.; Palmero, Edenir Inêz; Par... Journal: Human mutation Issue: Volume 39:Issue 5(2018) Page Start: 593 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Screening of CNVs using NGS data improves mutation detection yield and decreases costs in genetic testing for hereditary cancer. Issue 1 (20th November 2020) Authors: Moreno-Cabrera, José Marcos; del Valle, Jesús; Feliubadaló, Lidia; Pineda, Marta; González, Sara; Campos, Olga; Cuesta, Raquel; Brunet, Joan; Serra, Eduard; Capellà, Gabriel; Gel, Bernat; Lázaro, Conxi Journal: Journal of medical genetics Issue: Volume 59:Issue 1(2022) Page Start: 75 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗