1. Assessment of Multiplex Digital Droplet RT-PCR as a Diagnostic Tool for SARS-CoV-2 Detection in Nasopharyngeal Swabs and Saliva Samples. (2nd January 2021) Authors: Cassinari, Kévin; Alessandri-Gradt, Elodie; Chambon, Pascal; Charbonnier, Françoise; Gracias, Ségolène; Beaussire, Ludivine; Alexandre, Kevin; Sarafan-Vasseur, Nasrin; Houdayer, Claude; Etienne, Manuel; Caron, François; Plantier, Jean Christophe; Frebourg, Thierry Journal: Clinical chemistry Issue: Volume 67:Number 5(2021) Page Start: 736 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. Clinical and pathologic features of Aicardi–Goutières syndrome due to an IFIH1 mutation: A pediatric case report. Issue 5 (1st February 2016) Authors: Marguet, Florent; Laquerrière, Annie; Goldenberg, Alice; Guerrot, Anne‐Marie; Quenez, Olivier; Flahaut, Philippe; Vanhulle, Catherine; Dumant‐Forest, Clémentine; Charbonnier, Françoise; Vezain, Myriam; Bekri, Soumeya; Tournier, Isabelle; Frébourg, Thierry; Nicolas, Gaël Journal: American journal of medical genetics Issue: Volume 170:Issue 5(2016) Page Start: 1317 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. Efficiency of physiotherapy with Caycedian Sophrology on children with asthma: A randomized controlled trial. Issue 5 (1st March 2018) Authors: Romieu, Huguette; Charbonnier, Françoise; Janka, Dora; Douillard, Aymeric; Macioce, Valérie; Lavastre, Kathleen; Abassi, Hamouda; Renoux, Marie‐Catherine; Mura, Thibault; Amedro, Pascal Journal: Pediatric pulmonology Issue: Volume 53:Issue 5(2018) Page Start: 559 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 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) ↗
7. 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) ↗
8. Impact of Sophrology on cardiopulmonary fitness in teenagers and young adults with a congenital heart disease: The SOPHROCARE study rationale, design and methods. (April 2020) Authors: Moreau, Johan; Lavastre, Kathleen; Romieu, Huguette; Charbonnier, Françoise; Guillaumont, Sophie; Bredy, Charlene; Abassi, Hamouda; Werner, Oscar; De La Villeon, Gregoire; Requirand, Anne; Auer, Annie; Matecki, Stefan; Karsenty, Clement; Guitarte, Aitor; Hadeed, Khaled; Dulac, Yves; Souletie, Nat... Journal: IJC heart & vasculature Issue: Volume 27(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. 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) ↗