A novel mutatioin in the <it>PSTPIP1</it> gene is associated with an autoinflammatory disease distinct from classical PAPA syndrome by Sampson B, Bernstein J, Tokio S, Isidor B, Fessatou S, Rodríguez-Gallego C, Gattorno M, Holland S, Aksentijevich I, Lohse P, Holzinger D, Austermann J, Sunderkoetter C, Roth J

Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis by Chatron, N, Cassinari, K, Quenez, O, Baert-Desurmont, S, Bardel, C, Buisine, M, Calpena, E, Capri, Y, Galbany, J, Diguet, F, Edery, P, Isidor, B, Labalme, A, Le Caignec, C, Lévy, J, Lecoquierre, F, Lindenbaum, P, Pichon, O, Rollat-Farnier, P, Simonet, T, Saugier-Veber, P, Tabet, A, Toutain, A, Wilkie, A, Lesca, G, Sanlaville, D, Nicolas, G, Schluth-Bolard, C

Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia. by Broix, L, Jagline, H, L Ivanova, E, Schmucker, S, Drouot, N, Clayton-Smith, J, Pagnamenta, A, Metcalfe, K, Isidor, B, Louvier, U, Poduri, A, Taylor, J, Tilly, P, Poirier, K, Saillour, Y, Lebrun, N, Stemmelen, T, Rudolf, G, Muraca, G, Saintpierre, B, Elmorjani, A, Deciphering Developmental Disorders study, Moïse, M, Weirauch, N, Guerrini, R, Boland, A, Olaso, R, Masson, C, Tripathy, R, Keays, D, Beldjord, C, Nguyen, L, Godin, J, Kini, U, Nischké, P, Deleuze, J, Bahi-Buisson, N, Sumara, I, Hinckelmann, M, Chelly, J