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Author/Creator Colombo, Mara

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
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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
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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
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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
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