1. Homozygous mutation in ELMO2 may cause Ramon syndrome. Issue 3 (25th January 2018) Authors: Mehawej, C.; Hoischen, A.; Farah, R.A.; Marey, I.; David, M.; Stora, S.; Lachlan, K.; Brunner, H.G.; Mégarbané, A. Journal: Clinical genetics Issue: Volume 93:Issue 3(2018) Page Start: 703 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Mosaic intragenic deletion of FBN2 and severe congenital contractural arachnodactyly. Issue 5 (1st August 2017) Authors: Lavillaureix, A.; Heide, S.; Chantot‐Bastaraud, S.; Marey, I.; Keren, B.; Grigorescu, R.; Jouannic, J.M.; Gelot, A.; Whalen, S.; Héron, D.; Siffroi, J.P. Journal: Clinical genetics Issue: Volume 92:Issue 5(2017) Page Start: 556 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients. Issue 3 (4th October 2017) Authors: Chérot, E.; Keren, B.; Dubourg, C.; Carré, W.; Fradin, M.; Lavillaureix, A.; Afenjar, A.; Burglen, L.; Whalen, S.; Charles, P.; Marey, I.; Heide, S.; Jacquette, A.; Heron, D.; Doummar, D.; Rodriguez, D.; Billette de Villemeur, T.; Moutard, M.‐L.; Guët, A.; Xavier, J. Journal: Clinical genetics Issue: Volume 93:Issue 3(2018) Page Start: 567 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗