Prevalence and architecture of de novo mutations in developmental disorders حسب Parker, M, The Deciphering Developmental Disorders Study

Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature حسب Cleaver, RJ, Berg, J, Craft, E, Foster, A, Gibbons, RJ, Hobson, E, Lachlan, K, Naik, S, Sampson, JR, Sharif, S, Smithson, S, Deciphering Developmental Disorders Study, Parker, MJ, Tatton-Brown, K

De novo mutations in EBF3 cause a neurodevelopmental syndrome حسب Sleven, H, Welsh, S, Yu, J, Churchill, M, Wright, C, Henderson, A, Horvath, R, Rankin, J, Vogt, J, Magee, A, McConnell, V, Green, A, King, M, Cox, H, Armstrong, L, Lehman, A, Nelson, T, Deciphering Developmental Disorders study, CAUSES study, Williams, J, Clouston, P, Hagman, J, Németh, A

De novo missense substitutions in the gene encoding CDK8, a regulator of the Mediator complex, cause a syndromic developmental disorder حسب Calpena, E, Hervieu, A, Kaserer, T, Swagemakers, SMA, Goos, JAC, Popoola, O, Ruiz, MJ, Dieber, T, Bownass, L, Brilstra, EH, Brimble, E, Foulds, N, Grebe, TA, Harder, AVE, Lees, MM, Monaghan, KG, Newbury-Ecob, RA, Ong, K-R, Osio, D, Santos, FJ, Ruzhnikov, MRZ, Telegrafi, A, van Binsbergen, E, van Dooren, MF, Deciphering Developmental Disorders Study, van der Spek, PJ, Twigg, SRF, Mathijssen, IMJ, Clarke, PA, Wilkie, A

Bi-allelic loss-of-function CACNA1B mutations in progressive epilepsy-dyskinesia حسب Gorman, KM, Meyer, E, Grozeva, D, Spinelli, E, McTague, A, Sanchis-Juan, A, Carss, KJ, Bryant, E, Reich, A, Schneider, AL, Pressler, RM, Simpson, MA, Debelle, GD, Wassmer, E, Morton, J, Sieciechowicz, D, Jan-Kamsteeg, E, Paciorkowski, AR, King, MD, Cross, JH, Poduri, A, Mefford, HC, Scheffer, IE, Haack, TB, McCullagh, G, Deciphering Developmental Disorders Study, UK10K Consortium, NIHR BioResource, Rue-Albrecht, K, Millichap, JJ, Carvill, GL, Clayton-Smith, J, Maher, ER, Raymond, FL, Kurian, MA

Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia. حسب 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

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome حسب Tessadori, F, Duran, K, Knapp, K, Fellner, M, Smithson, S, Beleza Meireles, A, Elting, MW, Waisfisz, Q, O'Donnell-Luria, A, Nowak, C, Douglas, J, Ronan, A, Brunet, T, Kotzaeridou, U, Svihovec, S, Saenz, MS, Thiffault, I, Del Viso, F, Devine, P, Rego, S, Tenney, J, van Haeringen, A, Ruivenkamp, CAL, Koene, S, Robertson, SP, Deshpande, C, Pfundt, R, Verbeek, N, van de Kamp, JM, Weiss, JMM, Ruiz, A, Gabau, E, Banne, E, Pepler, A, Bottani, A, Laurent, S, Guipponi, M, Bijlsma, E, Bruel, A-L, Sorlin, A, Willis, M, Powis, Z, Smol, T, Vincent-Delorme, C, Baralle, D, Colin, E, Revencu, N, Calpena, E, Wilkie, AOM

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