1. 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) ↗
2. Evaluation of a 5‐Tier Scheme Proposed for Classification of Sequence Variants Using Bioinformatic and Splicing Assay Data: Inter‐Reviewer Variability and Promotion of Minimum Reporting Guidelines. Issue 10 (13th August 2013) Authors: Walker, Logan C.; Whiley, Phillip J.; Houdayer, Claude; Hansen, Thomas V. O.; Vega, Ana; Santamarina, Marta; Blanco, Ana; Fachal, Laura; Southey, Melissa C.; Lafferty, Alan; Colombo, Mara; De Vecchi, Giovanna; Radice, Paolo; Spurdle, Amanda B. Journal: Human mutation Issue: Volume 34:Issue 10(2013:Oct.) Page Start: 1424 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples. Issue 8 (8th April 2016) Authors: Fackenthal, James D; Yoshimatsu, Toshio; Zhang, Bifeng; de Garibay, Gorka R; Colombo, Mara; De Vecchi, Giovanna; Ayoub, Samantha C; Lal, Kumar; Olopade, Olufunmilayo I; Vega, Ana; Santamariña, Marta; Blanco, Ana; Wappenschmidt, Barbara; Becker, Alexandra; Houdayer, Claude; Walker, Logan C; López-... Journal: Journal of medical genetics Issue: Volume 53:Issue 8(2016) Page Start: 548 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. The BRCA2 c.68‐7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity. Issue 5 (6th April 2018) Authors: Colombo, Mara; Lòpez‐Perolio, Irene; Meeks, Huong D.; Caleca, Laura; Parsons, Michael T.; Li, Hongyan; De Vecchi, Giovanna; Tudini, Emma; Foglia, Claudia; Mondini, Patrizia; Manoukian, Siranoush; Behar, Raquel; Garcia, Encarna B. Gómez; Meindl, Alfons; Montagna, Marco; Niederacher, Dieter; Schmid... Journal: Human mutation Issue: Volume 39:Issue 5(2018) Page Start: 729 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗