1. Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts. (February 2020) Authors: Belot, Alexandre; Rice, Gillian I; Omarjee, Sulliman Ommar; Rouchon, Quentin; Smith, Eve M D; Moreews, Marion; Tusseau, Maud; Frachette, Cécile; Bournhonesque, Raphael; Thielens, Nicole; Gaboriaud, Christine; Rouvet, Isabelle; Chopin, Emilie; Hoshino, Akihiro; Latour, Sylvain; Ranchin, Bruno; Cim... Journal: Lancet Issue: Volume 2:Number 2(2020) Page Start: e99 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Development of a new expanded next‐generation sequencing panel for genetic diseases involved in dyslipidemia. Issue 6 (4th September 2020) Authors: Marmontel, Oriane; Rollat‐Farnier, Pierre Antoine; Wozny, Anne‐Sophie; Charrière, Sybil; Vanhoye, Xavier; Simonet, Thomas; Chatron, Nicolas; Collin‐Chavagnac, Delphine; Nony, Séverine; Dumont, Sabrina; Mahl, Muriel; Jacobs, Chantal; Janin, Alexandre; Caussy, Cyrielle; Poinsot, Pierre; Tauveron, I... Journal: Clinical genetics Issue: Volume 98:Issue 6(2020) Page Start: 589 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Exome sequencing in 57 patients with self-limited focal epilepsies of childhood with typical or atypical presentations suggests novel candidate genes. (July 2020) Authors: Rudolf, Gabrielle; de Bellescize, Julitta; de Saint Martin, Anne; Arzimanoglou, Alexis; Valenti Hirsch, Maria Paola; Labalme, Audrey; Boulay, Clotilde; Simonet, Thomas; Boland, Anne; Deleuze, Jean François; Nitschké, Patrick; Ollivier, Emmanuelle; Sanlaville, Damien; Hirsch, Edouard; Chelly, Jame... Journal: European journal of paediatric neurology Issue: Volume 27(2020) Page Start: 104 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. H2A.Z is dispensable for both basal and activated transcription in post-mitotic mouse muscles. Issue 9 (8th April 2020) Authors: Belotti, Edwige; Lacoste, Nicolas; Simonet, Thomas; Papin, Christophe; Padmanabhan, Kiran; Scionti, Isabella; Gangloff, Yann-Gaël; Ramos, Lorrie; Dalkara, Defne; Hamiche, Ali; Dimitrov, Stefan; Schaeffer, Laurent Journal: Nucleic acids research Issue: Volume 48:Issue 9(2020) Page Start: 4601 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis. Issue 11 (12th July 2019) Authors: Chatron, Nicolas; Cassinari, Kevin; Quenez, Olivier; Baert‐Desurmont, Stéphanie; Bardel, Claire; Buisine, Marie‐Pierre; Calpena, Eduardo; Capri, Yline; Corominas Galbany, Jordi; Diguet, Flavie; Edery, Patrick; Isidor, Bertrand; Labalme, Audrey; Le Caignec, Cedric; Lévy, Jonathan; Lecoquierre, Fra... Journal: Human mutation Issue: Volume 40:Issue 11(2019) Page Start: 1993 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 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) ↗
7. Performances of Targeted RNA Sequencing for the Analysis of Fusion Transcripts, Gene Mutation, and Expression in Hematological Malignancies. Issue 2 (27th February 2021) Authors: Hayette, Sandrine; Grange, Béatrice; Vallee, Maxime; Bardel, Claire; Huet, Sarah; Mosnier, Isabelle; Chabane, Kaddour; Simonet, Thomas; Balsat, Marie; Heiblig, Maël; Tigaud, Isabelle; Nicolini, Franck E.; Mareschal, Sylvain; Salles, Gilles; Sujobert, Pierre Journal: HemaSphere Issue: Volume 5:Issue 2(2021) Page Start: e522 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Telomere protection and TRF2 expression are enhanced by the canonical Wnt signalling pathway. (22nd February 2013) Authors: Diala, Irmina; Wagner, Nicole; Magdinier, Frédérique; Shkreli, Marina; Sirakov, Maria; Bauwens, Serge; Schluth‐Bolard, Caroline; Simonet, Thomas; Renault, Valérie M; Ye, Jing; Djerbi, Abdelnnadir; Pineau, Pascal; Choi, Jinkuk; Artandi, Steven; Dejean, Anne; Plateroti, Michelina; Gilson, Eric Journal: EMBO reports Issue: Volume 14:Number 4(2013) Page Start: 356 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant. Issue 5 (30th April 2018) Authors: Chatron, Nicolas; Møller, Rikke S.; Champaigne, Neena L.; Schneider, Amy L.; Kuechler, Alma; Labalme, Audrey; Simonet, Thomas; Baggett, Lauren; Bardel, Claire; Kamsteeg, Erik‐Jan; Pfundt, Rolph; Romano, Corrado; Aronsson, Johan; Alberti, Antonino; Vinci, Mirella; Miranda, Maria J.; Lacroix, Amy; ... Journal: Annals of neurology Issue: Volume 83:Issue 5(2018) Page Start: 926 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗