11. Further delineation of the NTHL1 associated syndrome: A report from the French Oncogenetic Consortium. Issue 5 (12th February 2021) Authors: Boulouard, Flavie; Kasper, Edwige; Buisine, Marie‐Pierre; Lienard, Gwendoline; Vasseur, Stéphanie; Manase, Sandrine; Bahuau, Michel; Barouk Simonet, Emmanuelle; Bubien, Virginie; Coulet, Florence; Cusin, Véronica; Dhooge, Marion; Golmard, Lisa; Goussot, Vincent; Hamzaoui, Nadim; Lacaze, Elodie; L... Journal: Clinical genetics Issue: Volume 99:Issue 5(2021) Page Start: 662 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
12. Genomic hallmarks of homologous recombination deficiency in invasive breast carcinomas. Issue 4 (24th September 2015) Authors: Manié, Elodie; Popova, Tatiana; Battistella, Aude; Tarabeux, Julien; Caux‐Moncoutier, Virginie; Golmard, Lisa; Smith, Nicholas K.; Mueller, Christopher R.; Mariani, Odette; Sigal‐Zafrani, Brigitte; Dubois, Thierry; Vincent‐Salomon, Anne; Houdayer, Claude; Stoppa‐Lyonnet, Dominique; Stern, Marc‐Henri Journal: International journal of cancer Issue: Volume 138:Issue 4(2016:Feb. 15) Page Start: 891 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
13. Histo‐genomic stratification reveals the frequent amplification/overexpression of CCNE1 and BRD4 genes in non‐BRCAness high grade ovarian carcinoma. Issue 8 (29th April 2015) Authors: Goundiam, Oumou; Gestraud, Pierre; Popova, Tatiana; De la Motte Rouge, Thibault; Fourchotte, Virginie; Gentien, David; Hupé, Philippe; Becette, Véronique; Houdayer, Claude; Roman‐Roman, Sergio; Stern, Marc‐Henri; Sastre‐Garau, Xavier Journal: International journal of cancer Issue: Volume 137:Issue 8(2015:Oct. 15) Page Start: 1890 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
14. Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. Issue 9 (13th September 2019) Authors: Parsons, Michael T.; Tudini, Emma; Li, Hongyan; Hahnen, Eric; Wappenschmidt, Barbara; Feliubadaló, Lidia; Aalfs, Cora M.; Agata, Simona; Aittomäki, Kristiina; Alducci, Elisa; Alonso‐Cerezo, María Concepción; Arnold, Norbert; Auber, Bernd; Austin, Rachel; Azzollini, Jacopo; Balmaña, Judith; Barbie... Editors: Moult, John; Brenner, Steven E. Other Names: Karchin Rachel guestEditor.; Pal Lipika R. specialEditor. Journal: Human mutation Issue: Volume 40:Issue 9(2019) Page Start: 1557 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
15. Molecular diagnosis of retinoblastoma by circulating tumor DNA analysis. (September 2021) Authors: Jiménez, Irene; Frouin, Éléonore; Chicard, Mathieu; Dehainault, Catherine; Le Gall, Jessica; Benoist, Camille; Gauthier, Arnaud; Lapouble, Eve; Houdayer, Claude; Radvanyi, François; Bernard, Virginie; Brisse, Hervé J.; Gauthier-Villars, Marion; Stoppa-Lyonnet, Dominique; Baulande, Sylvain; Cassou... Journal: European journal of cancer Issue: Volume 154(2021) Page Start: 277 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
16. Multiple sequence variants of BRCA2 exon 7 alter splicing regulation. Issue 10 (7th September 2012) Authors: Gaildrat, Pascaline; Krieger, Sophie; Di Giacomo, Daniela; Abdat, Julie; Révillion, Françoise; Caputo, Sandrine; Vaur, Dominique; Jamard, Estelle; Bohers, Elodie; Ledemeney, Danielle; Peyrat, Jean-Philippe; Houdayer, Claude; Rouleau, Etienne; Lidereau, Rosette; Frébourg, Thierry; Hardouin, Agnès;... Journal: Journal of medical genetics Issue: Volume 49:Issue 10(2012) Page Start: 609 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
17. 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 View Content: Available online (eLD content is only available in our Reading Rooms) ↗
18. 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) ↗
19. 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) ↗
20. 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) ↗