1. Genetic profiles of cervical tumors by high‐throughput sequencing for personalized medical care. (8th July 2015) Authors: Muller, Etienne; Brault, Baptiste; Holmes, Allyson; Legros, Angelina; Jeannot, Emmanuelle; Campitelli, Maura; Rousselin, Antoine; Goardon, Nicolas; Frébourg, Thierry; Krieger, Sophie; Crouet, Hubert; Nicolas, Alain; Sastre, Xavier; Vaur, Dominique; Castéra, Laurent Journal: Cancer medicine Issue: Volume 4:Number 10(2015:Oct.) Page Start: 1484 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Landscape of pathogenic variations in a panel of 34 genes and cancer risk estimation from 5131 HBOC families. (December 2018) Authors: Castéra, Laurent; Harter, Valentin; Muller, Etienne; Krieger, Sophie; Goardon, Nicolas; Ricou, Agathe; Rousselin, Antoine; Paimparay, Germain; Legros, Angelina; Bruet, Olivia; Quesnelle, Céline; Domin, Florian; San, Chankannira; Brault, Baptiste; Fouillet, Robin; Abadie, Caroline; Béra, Odile; Be... Journal: Genetics in medicine Issue: Volume 20:Number 12(2018) Page Start: 1677 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; 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) ↗
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 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) ↗
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 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) ↗
6. 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) ↗
7. The BRCA1 c.5434C→G (p.Pro1812Ala) variant induces a deleterious exon 23 skipping by affecting exonic splicing regulatory elements. Issue 6 (3rd June 2010) Authors: Gaildrat, Pascaline; Krieger, Sophie; Théry, Jean-Christophe; Killian, Audrey; Rousselin, Antoine; Berthet, Pascaline; Frébourg, Thierry; Hardouin, Agnès; Martins, Alexandra; Tosi, Mario Journal: Journal of medical genetics Issue: Volume 47:Issue 6(2010) Page Start: 398 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗