1. A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia. Issue 8 (7th June 2013) Authors: Di Gregorio, Eleonora; Bianchi, Federico T; Schiavi, Alfonso; Chiotto, Alessandra M A; Rolando, Marco; Verdun di Cantogno, Ludovica; Grosso, Enrico; Cavalieri, Simona; Calcia, Alessandro; Lacerenza, Daniela; Zuffardi, Orsetta; Retta, Saverio Francesco; Stevanin, Giovanni; Marelli, Cecilia; Durr, ... Journal: Journal of medical genetics Issue: Volume 50:Issue 8(2013) Page Start: 543 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel recurrent LIS1 splice site mutation in classic lissencephaly. Issue 2 (27th November 2016) Authors: Philbert, Marion; Maillard, Camille; Cavallin, Mara; Goldenberg, Alice; Masson, Cecile; Boddaert, Nathalie; El Morjani, Adrienne; Steffann, Julie; Chelly, Jamel; Gerard, Xavier; Bahi‐Buisson, Nadia Journal: American journal of medical genetics Issue: Volume 173:Issue 2(2017) Page Start: 561 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A step toward essential tremor gene discovery: identification of extreme phenotype and screening of HTRA2 and ANO3. Issue 1 (December 2016) Authors: Renaud, Mathilde; Marcel, Christophe; Rudolf, Gabrielle; Schaeffer, Mickaël; Lagha-Boukbiza, Ouhaïd; Chanson, Jean-Baptiste; Chelly, Jamel; Anheim, Mathieu; Tranchant, Christine Journal: BMC neurology Issue: Volume 16:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study. Issue 12 (December 2015) Authors: Mirzaa, Ghayda M; Conti, Valerio; Timms, Andrew E; Smyser, Christopher D; Ahmed, Sarah; Carter, Melissa; Barnett, Sarah; Hufnagel, Robert B; Goldstein, Amy; Narumi-Kishimoto, Yoko; Olds, Carissa; Collins, Sarah; Johnston, Kathreen; Deleuze, Jean-François; Nitschké, Patrick; Friend, Kathryn; Harri... Journal: Lancet neurology Issue: Volume 14:Issue 12(2015:Dec.) Page Start: 1182 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Ciliogenesis and cell cycle alterations contribute to KIF2A-related malformations of cortical development. (25th October 2017) Authors: Broix, Loïc; Asselin, Laure; Silva, Carla G; Ivanova, Ekaterina L; Tilly, Peggy; Gilet, Johan G; Lebrun, Nicolas; Jagline, Hélène; Muraca, Giuseppe; Saillour, Yoann; Drouot, Nathalie; Reilly, Madeline Louise; Francis, Fiona; Benmerah, Alexandre; Bahi-Buisson, Nadia; Belvindrah, Richard; Nguyen, L... Journal: Human molecular genetics Issue: Volume 27:Number 2(2018:Jan. 15) Page Start: 224 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Conditional switching of KIF2A mutation provides new insights into cortical malformation pathogeny. (10th January 2020) Authors: Gilet, Johan G; Ivanova, Ekaterina L; Trofimova, Daria; Rudolf, Gabrielle; Meziane, Hamid; Broix, Loic; Drouot, Nathalie; Courraud, Jeremie; Skory, Valerie; Voulleminot, Paul; Osipenko, Maria; Bahi-Buisson, Nadia; Yalcin, Binnaz; Birling, Marie-Christine; Hinckelmann, Maria-Victoria; Kwok, Benjam... Journal: Human molecular genetics Issue: Volume 29:Number 5(2020) Page Start: 766 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. De Novo Mutation in TMEM151A and Paroxysmal Kinesigenic Dyskinesia. Issue 5 (19th May 2022) Authors: Wirth, Thomas; Méneret, Aurélie; Drouot, Nathalie; Rudolf, Gabrielle; Lagha Boukbiza, Ouhaid; Chelly, Jamel; Tranchant, Christine; Piton, Amélie; Roze, Emmanuel; Anheim, Mathieu Journal: Movement disorders Issue: Volume 37:Issue 5(2022) Page Start: 1115 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. 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) ↗
9. Defining the phenotypic spectrum of SLC6A1 mutations. (8th January 2018) Authors: Johannesen, Katrine M.; Gardella, Elena; Linnankivi, Tarja; Courage, Carolina; de Saint Martin, Anne; Lehesjoki, Anna‐Elina; Mignot, Cyril; Afenjar, Alexandra; Lesca, Gaetan; Abi‐Warde, Marie‐Thérèse; Chelly, Jamel; Piton, Amélie; Merritt, J. Lawrence; Rodan, Lance H.; Tan, Wen‐Hann; Bird, Lynne ... Journal: Epilepsia Issue: Volume 59:issue 2(2018) Page Start: 389 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome. (21st September 2020) Authors: Bar, Claire; Kuchenbuch, Mathieu; Barcia, Giulia; Schneider, Amy; Jennesson, Mélanie; Le Guyader, Gwenaël; Lesca, Gaetan; Mignot, Cyril; Montomoli, Martino; Parrini, Elena; Isnard, Hervé; Rolland, Anne; Keren, Boris; Afenjar, Alexandra; Dorison, Nathalie; Sadleir, Lynette G.; Breuillard, Delphine... Journal: Epilepsia Issue: Volume 61:issue 11(2020) Page Start: 2461 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗