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) ↗
2. Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort. Issue 15 (10th May 2018) Authors: Leman, Raphaël; Gaildrat, Pascaline; Gac, Gérald L; Ka, Chandran; Fichou, Yann; Audrezet, Marie-Pierre; Caux-Moncoutier, Virginie; Caputo, Sandrine M; Boutry-Kryza, Nadia; Léone, Mélanie; Mazoyer, Sylvie; Bonnet-Dorion, Françoise; Sevenet, Nicolas; Guillaud-Bataille, Marine; Rouleau, Etienne; Bre... Journal: Nucleic acids research Issue: Volume 46:Issue 15(2018) Page Start: 7913 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort. Issue 15 (10th May 2018) Authors: Leman, Raphaël; Gaildrat, Pascaline; Le Gac, Gérald; Ka, Chandran; Fichou, Yann; Audrezet, Marie-Pierre; Caux-Moncoutier, Virginie; Caputo, Sandrine M; Boutry-Kryza, Nadia; Léone, Mélanie; Mazoyer, Sylvie; Bonnet-Dorion, Françoise; Sevenet, Nicolas; Guillaud-Bataille, Marine; Rouleau, Etienn... Journal: Nucleic acids research Issue: Volume 46:Issue 15(2018) Page Start: 7913 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort. Issue 21 (13th October 2018) Authors: Leman, Raphaël; Gaildrat, Pascaline; Gac, Gérald L; Ka, Chandran; Fichou, Yann; Audrezet, Marie-Pierre; Caux-Moncoutier, Virginie; Caputo, Sandrine M; Boutry-Kryza, Nadia; Léone, Mélanie; Mazoyer, Sylvie; Bonnet-Dorion, Françoise; Sevenet, Nicolas; Guillaud-Bataille, Marine; Rouleau, Etienne; Pai... Journal: Nucleic acids research Issue: Volume 46:Issue 21(2018) Page Start: 11656 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort. Issue 3 (21st December 2019) Authors: Leman, Raphaël; Gaildrat, Pascaline; Le Gac, Gérald; Ka, Chandran; Fichou, Yann; Audrezet, Marie-Pierre; Caux-Moncoutier, Virginie; Caputo, Sandrine M; Boutry-Kryza, Nadia; Léone, Mélanie; Mazoyer, Sylvie; Bonnet-Dorion, Françoise; Sevenet, Nicolas; Guillaud-Bataille, Marine; Rouleau, Etienn... Journal: Nucleic acids research Issue: Volume 48:Issue 3(2020) Page Start: 1600 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗