1. A recurrent clonally distinct Burkitt lymphoma case highlights genetic key events contributing to oncogenesis. Issue 8 (27th March 2019) Authors: Penther, Dominique; Viailly, Pierre‐Julien; Latour, Sylvain; Etancelin, Pascaline; Bohers, Elodie; Vellemans, Hélène; Camus, Vincent; Menard, Anne Lise; Coutant, Sophie; Lanic, Hélène; Lemasle, Emilie; Drieux, Fanny; Veresezan, Liana; Ruminy, Philippe; Raimbault, Anna; Soulier, Jean; Frebourg, Th... Journal: Genes, chromosomes & cancer Issue: Volume 58:Issue 8(2019) Page Start: 595 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Blood functional assay for rapid clinical interpretation of germline TP53 variants. Issue 12 (13th October 2020) Authors: Raad, Sabine; Rolain, Marion; Coutant, Sophie; Derambure, Céline; Lanos, Raphael; Charbonnier, Françoise; Bou, Jacqueline; Bouvignies, Emilie; Lienard, Gwendoline; Vasseur, Stéphanie; Farrell, Michael; Ingster, Olivier; Baert Desurmont, Stéphanie; Kasper, Edwige; Bougeard, Gaëlle; Frébourg, Thier... Journal: Journal of medical genetics Issue: Volume 58:Issue 12(2021) Page Start: 796 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Confirmation and further delineation of the SMG9‐deficiency syndrome, a rare and severe developmental disorder. Issue 11 (7th August 2019) Authors: Lecoquierre, François; Bonnevalle, Antoine; Chadie, Alexandra; Gayet, Claire; Dumant‐Forest, Clémentine; Renaux‐Petel, Mariette; Leca, Jean‐Baptiste; Hazelzet, Tristan; Brasseur‐Daudruy, Marie; Louillet, Ferielle; Muraine, Marc; Coutant, Sophie; Quenez, Olivier; Boland, Anne; Deleuze, Jean‐Franço... Journal: American journal of medical genetics Issue: Volume 179:Issue 11(2019) Page Start: 2257 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome. Issue 3 (25th October 2017) Authors: Renaux-Petel, Mariette; Charbonnier, Françoise; Théry, Jean-Christophe; Fermey, Pierre; Lienard, Gwendoline; Bou, Jacqueline; Coutant, Sophie; Vezain, Myriam; Kasper, Edwige; Fourneaux, Steeve; Manase, Sandrine; Blanluet, Maud; Leheup, Bruno; Mansuy, Ludovic; Champigneulle, Jacqueline; Chappé, Cé... Journal: Journal of medical genetics Issue: Volume 55:Issue 3(2018) Page Start: 173 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients. Issue 12 (23rd July 2022) Authors: Coursimault, Juliette; Cassinari, Kévin; Lecoquierre, François; Quenez, Olivier; Coutant, Sophie; Derambure, Céline; Vezain, Myriam; Drouot, Nathalie; Vera, Gabriella; Schaefer, Elise; Philippe, Anaïs; Doray, Bérénice; Lambert, Laëtitia; Ghoumid, Jamal; Smol, Thomas; Rama, Mélanie; Legendre, Mari... Journal: Human mutation Issue: Volume 43:Issue 12(2022) Page Start: 1882 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency. Issue 4 (18th March 2021) Authors: Tebani, Abdellah; Sudrié-Arnaud, Bénédicte; Dabaj, Ivana; Torre, Stéphanie; Domitille, Laur; Snanoudj, Sarah; Heron, Benedicte; Levade, Thierry; Caillaud, Catherine; Vergnaud, Sabrina; Saugier-Veber, Pascale; Coutant, Sophie; Dranguet, Hélène; Froissart, Roseline; Al Khouri, Majed; Alembik, Yves;... Journal: Journal of medical genetics Issue: Volume 59:Issue 4(2022) Page Start: 377 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Exome sequencing identifies the first genetic determinants of sirenomelia in humans. Issue 5 (1st March 2020) Authors: Lecoquierre, François; Brehin, Anne‐Claire; Coutant, Sophie; Coursimault, Juliette; Bazin, Anne; Finck, Wilfrid; Benoist, Guillaume; Begorre, Marianne; Beneteau, Claire; Cailliez, Daniel; Chenal, Pierre; De Jong, Mirjam; Degré, Sophie; Devisme, Louise; Francannet, Christine; Gérard, Bénédicte; Je... Journal: Human mutation Issue: Volume 41:Issue 5(2020) Page Start: 926 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Familial solitary chondrosarcoma resulting from germline EXT2 mutation. Issue 2 (25th October 2016) Authors: Heddar, Abdelkader; Fermey, Pierre; Coutant, Sophie; Angot, Emilie; Sabourin, Jean‐Christophe; Michelin, Paul; Parodi, Nathalie; Charbonnier, Françoise; Vezain, Myriam; Bougeard, Gaëlle; Baert‐Desurmont, Stéphanie; Frébourg, Thierry; Tournier, Isabelle Journal: Genes, chromosomes & cancer Issue: Volume 56:Issue 2(2017:Feb.) Page Start: 128 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Germline Mutations of Inhibins in Early‐Onset Ovarian Epithelial Tumors. Issue 3 (27th December 2013) Authors: Tournier, Isabelle; Marlin, Régine; Walton, Kelly; Charbonnier, Françoise; Coutant, Sophie; Théry, Jean‐Christophe; Charbonnier, Camille; Spurrell, Cailyn; Vezain, Myriam; Ippolito, Lorena; Bougeard, Gaëlle; Roman, Horace; Tinat, Julie; Sabourin, Jean‐Christophe; Stoppa‐Lyonnet, Dominique; Caron,... Journal: Human mutation Issue: Volume 35:Issue 3(2014:Mar.) Page Start: 294 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes. (November 2018) Authors: Baert-Desurmont, Stéphanie; Coutant, Sophie; Charbonnier, Françoise; Macquere, Pierre; Lecoquierre, François; Schwartz, Mathias; Blanluet, Maud; Vezain, Myriam; Lanos, Raphaël; Quenez, Olivier; Bou, Jacqueline; Bouvignies, Emilie; Fourneaux, Steeve; Manase, Sandrine; Vasseur, Stéphanie; Mauillon,... Journal: European journal of human genetics Issue: Volume 26:Number 11(2018) Page Start: 1597 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗