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. Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants. Issue 9 (23rd August 2019) Authors: Cline, Melissa S.; Babbi, Giulia; Bonache, Sandra; Cao, Yue; Casadio, Rita; de la Cruz, Xavier; Díez, Orland; Gutiérrez‐Enríquez, Sara; Katsonis, Panagiotis; Lai, Carmen; Lichtarge, Olivier; Martelli, Pier L.; Mishne, Gilad; Moles‐Fernández, Alejandro; Montalban, Gemma; Mooney, Sean D.; O'Conner,... 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: 1546 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. BRCA1‐ and BRCA2‐specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challenge. Issue 9 (3rd July 2019) Authors: Padilla, Natàlia; Moles‐Fernández, Alejandro; Riera, Casandra; Montalban, Gemma; Özkan, Selen; Ootes, Lars; Bonache, Sandra; Díez, Orland; Gutiérrez‐Enríquez, Sara; de la Cruz, Xavier 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: 1593 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. 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) ↗
5. EZH2 regulates neuroepithelium structure and neuroblast proliferation by repressing p21. Issue 4 (April 2016) Authors: Akizu, Naiara; García, María Alejandra; Estarás, Conchi; Fueyo, Raquel; Badosa, Carmen; de la Cruz, Xavier; Martínez-Balbás, Marian A. Journal: Open biology Issue: Volume 6:Issue 4(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Front Cover, Volume 40, Issue 9. Issue 9 (13th September 2019) Authors: Padilla, Natàlia; Moles‐Fernández, Alejandro; Riera, Casandra; Montalban, Gemma; Özkan, Selen; Ootes, Lars; Bonache, Sandra; Díez, Orland; Gutiérrez‐Enríquez, Sara; de la Cruz, Xavier 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: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Functional consequences of transferrin receptor‐2 mutations causing hereditary hemochromatosis type 3. Issue 3 (6th March 2015) Authors: Joshi, Ricky; Shvartsman, Maya; Morán, Erica; Lois, Sergi; Aranda, Jessica; Barqué, Anna; de la Cruz, Xavier; Bruguera, Miquel; Vagace, José Manuel; Gervasini, Guillermo; Sanz, Cristina; Sánchez, Mayka Journal: Molecular genetics & genomic medicine Issue: Volume 3:Issue 3(2015:May) Page Start: 221 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Increased dNTP pools rescue mtDNA depletion in human POLG‐deficient fibroblasts. Issue 6 (8th March 2019) Authors: Blázquez-Bermejo, Cora; Carreño-Gago, Lidia; Molina-Granada, David; Aguirre, Josu; Ramón, Javier; Torres-Torronteras, Javier; Cabrera-Pérez, Raquel; Martin, Miguel Ángel; Domínguez-González, Cristina; de la Cruz, Xavier; Lombès, Anne; García-Arumí, Elena; Martí, Ramon; Cámara, Yolanda Journal: FASEB journal Issue: Volume 33:Issue 6(2019) Page Start: 7168 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Molecular damage in Fabry disease: Characterization and prediction of alpha‐galactosidase A pathological mutations. Issue 1 (18th November 2014) Authors: Riera, Casandra; Lois, Sergio; Domínguez, Carmen; Fernandez‐Cadenas, Israel; Montaner, Joan; Rodríguez‐Sureda, Victor; de la Cruz, Xavier Journal: Proteins Issue: Volume 83:Issue 1(2015) Page Start: 91 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Prediction of pathological mutations in proteins: the challenge of integrating sequence conservation and structure stability principles. (27th August 2013) Authors: Riera, Casandra; Lois, Sergio; de la Cruz, Xavier Journal: Wiley interdisciplinary reviews Issue: Volume 4:Number 3(2014:May/Jun.) Page Start: 249 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗