1. Fetal phenotypes in otopalatodigital spectrum disorders. Issue 3 (29th October 2015) Authors: Naudion, S.; Moutton, S.; Coupry, I.; Sole, G.; Deforges, J.; Guerineau, E.; Hubert, C.; Deves, S.; Pilliod, J.; Rooryck, C.; Abel, C.; Le Breton, F.; Collardeau‐Frachon, S.; Cordier, M.P.; Delezoide, A.L.; Goldenberg, A.; Loget, P.; Melki, J.; Odent, S.; Patrier, S. Journal: Clinical genetics Issue: Volume 89:Issue 3(2016) Page Start: 371 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. Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study. (5th April 2013) Authors: Marle, N.; Martinet, D.; Aboura, A.; Joly‐Helas, G.; Andrieux, J.; Flori, E.; Puechberty, J.; Vialard, F.; Sanlaville, D.; Fert Ferrer, S.; Bourrouillou, G.; Tabet, A.C.; Quilichini, B.; Simon‐Bouy, B.; Bazin, A.; Becker, M.; Stora, H.; Amblard, S.; Doco‐Fenzy, M.; Molina Gomes, D. Journal: Clinical genetics Issue: Volume 85:Number 3(2014:Mar.) Page Start: 233 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. 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) ↗