Search

Author/Creator Behar, Raquel

1. Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report. Issue 7 (19th March 2019)

Authors:
Lopez-Perolio, Irene; Leman, Raphaël; Behar, Raquel; Lattimore, Vanessa; Pearson, John F; Castéra, Laurent; Martins, Alexandra; Vaur, Dominique; Goardon, Nicolas; Davy, Grégoire; Garre, Pilar; García-Barberán, Vanesa; Llovet, Patricia; Pérez-Segura, Pedro; Díaz-Rubio, Eduardo; Caldés, Trinidad; H...
Journal:
Journal of medical genetics
Issue:
Volume 56:Issue 7(2019)
Page Start:
453
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. 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) ↗