1. Mapping of chromosomal balanced rearrangements by whole-genome sequencing identifies genes involved in epilepsy. (June 2017) Authors: Masson, J.; Diguet, F.; Rollat-Farnier, P.A.; Mazoyer, S.; Lesca, G.; Kremer, V.; Flori, E.; Portnoï, M.F.; Siffroi, J.P.; Valence, S.; Till, M.; Edery, P.; Sanlaville, D.; Schluth-Bolard, C. 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) ↗
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) ↗