1. A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet‐Biedl syndrome. Issue 2 (14th November 2020) Authors: Delvallée, Clarisse; Nicaise, Samuel; Antin, Manuela; Leuvrey, Anne‐Sophie; Nourisson, Elsa; Leitch, Carmen C.; Kellaris, Georgios; Stoetzel, Corinne; Geoffroy, Véronique; Scheidecker, Sophie; Keren, Boris; Depienne, Christel; Klar, Joakim; Dahl, Niklas; Deleuze, Jean‐François; Génin, Emmanuelle;... Journal: Clinical genetics Issue: Volume 99:Issue 2(2021) Page Start: 318 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis. Issue Volume 49:Issue W1(2021) (22nd May 2021) Authors: Geoffroy, Véronique; Guignard, Thomas; Kress, Arnaud; Gaillard, Jean-Baptiste; Solli-Nowlan, Tor; Schalk, Audrey; Gatinois, Vincent; Dollfus, Hélène; Scheidecker, Sophie; Muller, Jean Journal: Nucleic acids research Issue: Volume 49:Issue W1(2021) Page Start: W21 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome. Issue 1 (5th October 2022) Authors: Jouret, Guillaume; Egloff, Matthieu; Landais, Emilie; Tassy, Olivier; Giuliano, Fabienne; Karmous‐Benailly, Houda; Coutton, Charles; Satre, Véronique; Devillard, Françoise; Dieterich, Klaus; Vieville, Gaëlle; Kuentz, Paul; le Caignec, Cédric; Beneteau, Claire; Isidor, Bertrand; Nizon, Mathilde; C... Journal: American journal of medical genetics Issue: Volume 191:Issue 1(2023) Page Start: 52 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Exome sequencing of Bardet–Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18). Issue 2 (11th September 2013) Authors: Scheidecker, Sophie; Etard, Christelle; Pierce, Nathan W; Geoffroy, Véronique; Schaefer, Elise; Muller, Jean; Chennen, Kirsley; Flori, Elisabeth; Pelletier, Valérie; Poch, Olivier; Marion, Vincent; Stoetzel, Corinne; Strähle, Uwe; Nachury, Maxence V; Dollfus, Hélène Journal: Journal of medical genetics Issue: Volume 51:Issue 2(2014) Page Start: 132 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features. Issue 6 (4th April 2018) Authors: Miguet, Marguerite; Faivre, Laurence; Amiel, Jeanne; Nizon, Mathilde; Touraine, Renaud; Prieur, Fabienne; Pasquier, Laurent; Lefebvre, Mathilde; Thevenon, Julien; Dubourg, Christèle; Julia, Sophie; Sarret, Catherine; Remerand, Ganaëlle; Francannet, Christine; Laffargue, Fanny; Boespflug-Tanguy, O... Journal: Journal of medical genetics Issue: Volume 55:Issue 6(2018) Page Start: 359 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy. Issue 10 (18th June 2019) Authors: Scheidecker, Sophie; Bär, Séverine; Stoetzel, Corinne; Geoffroy, Véronique; Lannes, Béatrice; Rinaldi, Bruno; Fischer, Frédéric; Becker, Hubert D.; Pelletier, Valérie; Pagan, Cécile; Acquaviva‐Bourdain, Cécile; Kremer, Stéphane; Mirande, Marc; Tranchant, Christine; Muller, Jean; Friant, Sylvie; D... Journal: Human mutation Issue: Volume 40:Issue 10(2019) Page Start: 1826 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Next‐generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy. Issue 12 (10th November 2020) Authors: Liu, Hui; Giguet‐Valard, Anna‐Gaëlle; Simonet, Thomas; Szenker‐Ravi, Emmanuelle; Lambert, Laetitia; Vincent‐Delorme, Catherine; Scheidecker, Sophie; Fradin, Mélanie; Morice‐Picard, Fanny; Naudion, Sophie; Ciorna‐Monferrato, Viorica; Colin, Estelle; Fellmann, Florence; Blesson, Sophie; Jouk, Pierr... Journal: Human mutation Issue: Volume 41:Issue 12(2020) Page Start: 2167 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish. Issue 1 (17th October 2019) Authors: Estrada‐Cuzcano, Alejandro; Etard, Christelle; Delvallée, Clarisse; Stoetzel, Corinne; Schaefer, Elise; Scheidecker, Sophie; Geoffroy, Véronique; Schneider, Aline; Studer, Fouzia; Mattioli, Francesca; Chennen, Kirsley; Sigaudy, Sabine; Plassard, Damien; Poch, Olivier; Piton, Amélie; Strahle, Uwe;... Journal: Human mutation Issue: Volume 41:Issue 1(2020) Page Start: 240 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature. Issue 2 (13th September 2016) Authors: Mary, Laura; Scheidecker, Sophie; Kohler, Monique; Lombardi, Maria‐Paola; Delezoide, Anne‐Lise; Auberger, Elisabeth; Triau, Stéphane; Colin, Estelle; Gerard, Marion; Grzeschik, Karl‐Heinz; Dollfus, Hélène; Antal, Maria Cristina Journal: American journal of medical genetics Issue: Volume 173:Issue 2(2017) Page Start: 479 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress. Issue 7 (5th June 2020) Authors: Kröll‐Hermi, Ariane; Ebstein, Frédéric; Stoetzel, Corinne; Geoffroy, Véronique; Schaefer, Elise; Scheidecker, Sophie; Bär, Séverine; Takamiya, Masanari; Kawakami, Koichi; Zieba, Barbara A; Studer, Fouzia; Pelletier, Valerie; Eyermann, Carine; Speeg‐Schatz, Claude; Laugel, Vincent; Lipsker, Dan; S... Journal: EMBO molecular medicine Issue: Volume 12:Issue 7(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗