1. Severe sex differentiation disorder in a boy with a 3.8 Mb 10q25.3–q26.12 microdeletion encompassing EMX2. Issue 10 (26th June 2014) Authors: Piard, Juliette; Mignot, Brigitte; Arbez‐Gindre, Francine; Aubert, Didier; Morel, Yves; Roze, Virginie; McElreavey, Kenneth; Jonveaux, Philippe; Valduga, Mylène; Van Maldergem, Lionel Journal: American journal of medical genetics Issue: Volume 164:Issue 10(2014.) Page Start: 2618 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus. Issue 7 (5th May 2020) Authors: Piard, Juliette; Béreau, Matthieu; XiangWei, Wenshu; Wirth, Thomas; Amsallem, Daniel; Buisson, Lauren; Richard, Philippe; Liu, Nana; Xu, Yuchen; Myers, Scott J.; Traynelis, Stephen F.; Chelly, Jameleddine; Anheim, Mathieu; Raynaud, Martine; Maldergem, Lionel Van; Yuan, Hongjie Journal: Movement disorders Issue: Volume 35:Issue 7(2020) Page Start: 1224 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical features of SMARCA2 duplication overlap with Coffin–Siris syndrome. Issue 10 (5th June 2016) Authors: Miyake, Noriko; Abdel‐Salam, Ghada; Yamagata, Takanori; Eid, Maha M.; Osaka, Hitoshi; Okamoto, Nobuhiko; Mohamed, Amal M.; Ikeda, Takahiro; Afifi, Hanan H.; Piard, Juliette; van Maldergem, Lionel; Mizuguchi, Takeshi; Miyatake, Satoko; Tsurusaki, Yoshinori; Matsumoto, Naomichi Other Names: Hennekam Raoul C.M. guestEditor.; Biesecker Leslie G. guestEditor. Journal: American journal of medical genetics Issue: Volume 170:Issue 10(2016) Page Start: 2662 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Whole MYBPC3 NGS sequencing as a molecular strategy to improve the efficiency of molecular diagnosis of patients with hypertrophic cardiomyopathy. Issue 2 (15th November 2019) Authors: Janin, Alexandre; Chanavat, Valérie; Rollat‐Farnier, Pierre‐Antoine; Bardel, Claire; Nguyen, Karine; Chevalier, Philippe; Eicher, Jean‐Christophe; Faivre, Laurence; Piard, Juliette; Albert, Emma; Nony, Severine; Millat, Gilles Journal: Human mutation Issue: Volume 41:Issue 2(2020) Page Start: 465 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy. Issue 12 (29th June 2016) Authors: de Lange, Iris M; Helbig, Katherine L; Weckhuysen, Sarah; Møller, Rikke S; Velinov, Milen; Dolzhanskaya, Natalia; Marsh, Eric; Helbig, Ingo; Devinsky, Orrin; Tang, Sha; Mefford, Heather C; Myers, Candace T; van Paesschen, Wim; Striano, Pasquale; van Gassen, Koen; van Kempen, Marjan; de Kovel, Car... Journal: Journal of medical genetics Issue: Volume 53:Issue 12(2016) Page Start: 850 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Increasing knowledge in IGF1R defects: lessons from 35 new patients. Issue 3 (5th October 2019) Authors: Giabicani, Eloïse; Willems, Marjolaine; Steunou, Virginie; Chantot-Bastaraud, Sandra; Thibaud, Nathalie; Abi Habib, Walid; Azzi, Salah; Lam, Bich; Bérard, Laurence; Bony-Trifunovic, Hélène; Brachet, Cécile; Brischoux-Boucher, Elise; Caldagues, Emmanuelle; Coutant, Regis; Cuvelier, Marie-Laure; Ge... Journal: Journal of medical genetics Issue: Volume 57:Issue 3(2020) Page Start: 160 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Cerebellum Dysfunction in Patients With PRRT2-Related Paroxysmal Dyskinesia. (8th March 2022) Authors: Ekmen, Asya; Meneret, Aurelie; Valabregue, Romain; Beranger, Benoit; Worbe, Yulia; Lamy, Jean-Charles; Mehdi, Sofien; Herve, Anais; Adanyeguh, Isaac; Temiz, Gizem; Damier, Philippe; Gras, Domitille; Roubertie, Agathe; Piard, Juliette; Navarro, Vincent; Mutez, Eugenie; Riant, Florence; Welniarz, Q... Journal: Neurology Issue: Volume 98:Number 10(2022) Page Start: e1077 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Neuropsychological study in 19 French patients with White‐Sutton syndrome and POGZ mutations. Issue 3 (15th December 2020) Authors: Garde, Aurore; Cornaton, Jenny; Sorlin, Arthur; Moutton, Sébastien; Nicolas, Claire; Juif, Christine; Geneviève, David; Perrin, Laurence; Khau‐Van‐Kien, Philippe; Smol, Thomas; Vincent‐Delorme, Catherine; Isidor, Bertrand; Cogné, Benjamin; Afenjar, Alexandra; Keren, Boris; Coubes, Christine; Prie... Journal: Clinical genetics Issue: Volume 99:Issue 3(2021) Page Start: 407 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita. Issue 6 (5th April 2021) Authors: Laquerriere, Annie; Jaber, Dana; Abiusi, Emanuela; Maluenda, Jérome; Mejlachowicz, Dan; Vivanti, Alexandre; Dieterich, Klaus; Stoeva, Radka; Quevarec, Loic; Nolent, Flora; Biancalana, Valerie; Latour, Philippe; Sternberg, Damien; Capri, Yline; Verloes, Alain; Bessieres, Bettina; Loeuillet, Lauren... Journal: Journal of medical genetics Issue: Volume 59:Issue 6(2022) Page Start: 559 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. 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) ↗