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. Altered regulation of BRCA1 exon 11 splicing is associated with breast cancer risk in carriers of BRCA1 pathogenic variants. Issue 11 (31st August 2021) Authors: Ruiz de Garibay, Gorka; Fernandez‐Garcia, Ignacio; Mazoyer, Sylvie; Leme de Calais, Flavia; Ameri, Pietro; Vijayakumar, Sangeetha; Martinez‐Ruiz, Haydeliz; Damiola, Francesca; Barjhoux, Laure; Thomassen, Mads; Andersen, Lars v. B.; Herranz, Carmen; Mateo, Francesca; Palomero, Luis; Espín, Roderic... Journal: Human mutation Issue: Volume 42:Issue 11(2021) Page Start: 1488 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report. Issue 7 (19th March 2019) Authors: Lopez-Perolio, Irene; Leman, Raphaël; Behar, Raquel; Lattimore, Vanessa; Pearson, John F; Castéra, Laurent; Martins, Alexandra; Vaur, Dominique; Goardon, Nicolas; Davy, Grégoire; Garre, Pilar; García-Barberán, Vanesa; Llovet, Patricia; Pérez-Segura, Pedro; Díaz-Rubio, Eduardo; Caldés, Trinidad; H... Journal: Journal of medical genetics Issue: Volume 56:Issue 7(2019) Page Start: 453 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers. Issue 1 (December 2015) Authors: Blein, Sophie; Bardel, Claire; Danjean, Vincent; McGuffog, Lesley; Healey, Sue; Barrowdale, Daniel; Lee, Andrew; Dennis, Joe; Kuchenbaecker, Karoline; Soucy, Penny; Terry, Mary; Chung, Wendy; Goldgar, David; Buys, Saundra; Janavicius, Ramunas; Tihomirova, Laima; Tung, Nadine; Dorfling, Cecilia; v... Journal: Breast cancer research Issue: Volume 17:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Back Cover, Volume 39, Issue 9. Issue 9 (31st August 2018) Authors: Montalban, Gemma; Fraile‐Bethencourt, Eugenia; López‐Perolio, Irene; Pérez‐Segura, Pedro; Infante, Mar; Durán, Mercedes; Alonso‐Cerezo, María Concepción; López‐Fernández, Adrià; Diez, Orland; de la Hoya, Miguel; Velasco, Eladio A.; Gutiérrez‐Enríquez, Sara Journal: Human mutation Issue: Volume 39:Issue 9(2018) Page Start: ii Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 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) ↗
7. Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants. Issue 14 (10th May 2022) Authors: Li, Shuai; Silvestri, Valentina; Leslie, Goska; Rebbeck, Timothy R.; Neuhausen, Susan L.; Hopper, John L.; Nielsen, Henriette Roed; Lee, Andrew; Yang, Xin; McGuffog, Lesley; Parsons, Michael T.; Andrulis, Irene L.; Arnold, Norbert; Belotti, Muriel; Borg, Åke; Buecher, Bruno; Buys, Saundra S.; Cap... Journal: Journal of clinical oncology Issue: Volume 40:Issue 14(2022) Page Start: 1529 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study. Issue 9 (13th July 2018) Authors: Montalban, Gemma; Fraile‐Bethencourt, Eugenia; López‐Perolio, Irene; Pérez‐Segura, Pedro; Infante, Mar; Durán, Mercedes; Alonso‐Cerezo, María Concepción; López‐Fernández, Adrià; Diez, Orland; de la Hoya, Miguel; Velasco, Eladio A.; Gutiérrez‐Enríquez, Sara Journal: Human mutation Issue: Volume 39:Issue 9(2018) Page Start: 1155 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points‐based ACMG/AMP approach. Issue 12 (23rd October 2022) Authors: Thomassen, Mads; Mesman, Romy L. S.; Hansen, Thomas V. O.; Menendez, Mireia; Rossing, Maria; Esteban‐Sánchez, Ada; Tudini, Emma; Törngren, Therese; Parsons, Michael T.; Pedersen, Inge S.; Teo, Soo H.; Kruse, Torben A.; Møller, Pål; Borg, Åke; Jensen, Uffe B.; Christensen, Lise L.; Singer, Christi... Journal: Human mutation Issue: Volume 43:Issue 12(2022) Page Start: 1921 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Comparison of mRNA Splicing Assay Protocols across Multiple Laboratories: Recommendations for Best Practice in Standardized Clinical Testing. (1st February 2014) Authors: Whiley, Phillip J; de la Hoya, Miguel; Thomassen, Mads; Becker, Alexandra; Brandão, Rita; Pedersen, Inge Sokilde; Montagna, Marco; Menéndez, Mireia; Quiles, Francisco; Gutiérrez-Enríquez, Sara; De Leeneer, Kim; Tenés, Anna; Montalban, Gemma; Tserpelis, Demis; Yoshimatsu, Toshio; Tirapo, Carole; R... Journal: Clinical chemistry Issue: Volume 60:Number 2(2014) Page Start: 341 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗