1. Functional Analysis of a Large set of BRCA2 exon 7 Variants Highlights the Predictive Value of Hexamer Scores in Detecting Alterations of Exonic Splicing Regulatory Elements. Issue 11 (18th September 2013) Authors: Di Giacomo, Daniela; Gaildrat, Pascaline; Abuli, Anna; Abdat, Julie; Frébourg, Thierry; Tosi, Mario; Martins, Alexandra Journal: Human mutation Issue: Volume 34:Issue 11(2013:Nov.) Page Start: 1547 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Functional Analysis of a Large set of BRCA2 exon 7 Variants Highlights the Predictive Value of Hexamer Scores in Detecting Alterations of Exonic Splicing Regulatory Elements. Issue 11 (18th September 2013) Authors: Di Giacomo, Daniela; Gaildrat, Pascaline; Abuli, Anna; Abdat, Julie; Frébourg, Thierry; Tosi, Mario; Martins, Alexandra Journal: Human mutation Issue: Volume 34:Issue 11(2013:Nov.) Page Start: 1547 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Multiple sequence variants of BRCA2 exon 7 alter splicing regulation. Issue 10 (7th September 2012) Authors: Gaildrat, Pascaline; Krieger, Sophie; Di Giacomo, Daniela; Abdat, Julie; Révillion, Françoise; Caputo, Sandrine; Vaur, Dominique; Jamard, Estelle; Bohers, Elodie; Ledemeney, Danielle; Peyrat, Jean-Philippe; Houdayer, Claude; Rouleau, Etienne; Lidereau, Rosette; Frébourg, Thierry; Hardouin, Agnès;... Journal: Journal of medical genetics Issue: Volume 49:Issue 10(2012) Page Start: 609 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗