1. Whole‐exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome. Issue 2 (30th July 2015) Authors: Dimassi, S.; Labalme, A.; Ville, D.; Calender, A.; Mignot, C.; Boutry‐Kryza, N.; de Bellescize, J.; Rivier‐Ringenbach, C.; Bourel‐Ponchel, E.; Cheillan, D.; Simonet, T.; Maincent, K.; Rossi, M.; Till, M.; Mougou‐Zerelli, S.; Edery, P.; Saad, A.; Heron, D.; des Portes, V.; Sanlaville, D. Journal: Clinical genetics Issue: Volume 89:Issue 2(2016) Page Start: 198 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Incidental findings on array comparative genomic hybridization: detection of carrier females of dystrophinopathy without any family history. (21st July 2014) Authors: Nguyen, K.; Putoux, A.; Busa, T.; Cordier, M.P.; Sigaudy, S.; Till, M.; Chabrol, B.; Michel‐Calemard, L.; Bernard, R.; Julia, S.; Malzac, P.; Labalme, A.; Missirian, C.; Edery, P.; Popovici, C.; Philip, N.; Sanlaville, D. Journal: Clinical genetics Issue: Volume 87:Number 5(2015:May) Page Start: 488 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Next-generation sequencing (NGS) is a powerful tool to improve diagnostic yield in intellectual disability. (June 2017) Authors: Labalme, A.; Chatron, N.; Till, M.; Cordier, M.P.; Rossi, M.; Putoux, A.; Pons, L.; des Portes, V.; Edery, P.; Sanlaville, D.; Lesca, G. Journal: European journal of paediatric neurology Issue: Volume 21(2017)Supplement 1 Page Start: e52 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. 6q22.1 deletion is associated with epilepsy and abnormal movements. (June 2017) Authors: Schluth-Bolard, C.; Flamand-Roze, E.; Masurel, A.; Olivier-Faivre, L.; Callier, P.; Charles, P.; Keren, B.; Guillot, N.; Labalme, A.; Sanlaville, D.; Mochel, F.; Des Portes, V.; Lesca, G. Journal: European journal of paediatric neurology Issue: Volume 21(2017)Supplement 1 Page Start: e52 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. West syndrome due to compound heterozygous QARS mutations. (June 2017) Authors: Poulat, A.L.; Lesca, G.; Chatron, N.; Labalme, A.; Des Portes, V.; Sanlaville, D.; De Bellescize, J.; Ville, D. Journal: European journal of paediatric neurology Issue: Volume 21(2017)Supplement 1 Page Start: e99 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Severe cognitive impairment and early-onset epilepsy in six patients with the de novo p.Glu590Lys variant of CUX2. (June 2017) Authors: Chatron, N.; Møller, R.S.; Champaigne, N.L.; Kuechler, A.; Labalme, A.; Baggett, L.; Wieczorek, D.; Portes, V. des; Edery, P.; Gardella, E.; Scheffer, I.E.; Mefford, H.; Sanlaville, D.; Carvill, G.L.; Lesca, G. Journal: European journal of paediatric neurology Issue: Volume 21(2017)Supplement 1 Page Start: e194 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. A novel homozygous truncating mutation of the SFRP4 gene in Pyle's disease. Issue 1 (16th January 2017) Authors: Chatron, N.; Lesca, G.; Labalme, A.; Rollat‐Farnier, P.A.; Monin, P.; Pichot, E.; Edery, P.; Sanlaville, D.; Rossi, M. Journal: Clinical genetics Issue: Volume 92:Issue 1(2017) Page Start: 112 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗