1. About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants. Issue 9 (7th November 2013) Authors: Gutiérrez‐Enríquez, Sara; Bonache, Sandra; Ruíz de Garibay, Gorka; Osorio, Ana; Santamariña, Marta; Ramón y Cajal, Teresa; Esteban‐Cardeñosa, Eva; Tenés, Anna; Yanowsky, Kira; Barroso, Alicia; Montalban, Gemma; Blanco, Ana; Cornet, Mònica; Gadea, Neus; Infante, Mar; Caldés, Trinidad; Díaz‐Rubio, ... Journal: International journal of cancer Issue: Volume 134:Issue 9(2014:May 01) Page Start: 2088 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. 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) ↗