1. A novel 2q14.1q14.3 deletion involving GLI2 and RNU4ATAC genes associated with partial corpus callosum agenesis and severe intrauterine growth retardation. Issue 9 (27th June 2016) Authors: Goumy, Carole; Gay‐Bellile, Mathilde; Salaun, Gaelle; Kemeny, Stephan; Eymard‐Pierre, Eleonore; Biard, Marie; Pebrel‐Richard, Celine; Vanlieferinghen, Philippe; Francannet, Christine; Tchirkov, Andrei; Laurichesse, Helene; Rouzade, Charles; Gouas, Laetitia; Vago, Philippe Journal: Birth defects research Issue: Volume 106:Issue 9(2016) Page Start: 793 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Refinement of the critical region in a new 7p22.1 microduplication syndrome including craniofacial dysmorphism and speech delay. Issue 11 (14th August 2014) Authors: Pebrel‐Richard, Celine; Rouzade, Charles; Kemeny, Stephan; Eymard‐Pierre, Eleonore; Gay‐Bellile, Mathilde; Gouas, Laetitia; Tchirkov, Andreï; Goumy, Carole; Vago, Philippe Journal: American journal of medical genetics Issue: Volume 164:Issue 11(2014.) Page Start: 2964 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗