1. Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations. Issue 3 (12th January 2013) Authors: Schluth-Bolard, Caroline; Labalme, Audrey; Cordier, Marie-Pierre; Till, Marianne; Nadeau, Gwenaël; Tevissen, Hélène; Lesca, Gaétan; Boutry-Kryza, Nadia; Rossignol, Sylvie; Rocas, Delphine; Dubruc, Estelle; Edery, Patrick; Sanlaville, Damien Journal: Journal of medical genetics Issue: Volume 50:Issue 3(2013) Page Start: 144 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) ↗