Prevalence and architecture of de novo mutations in developmental disorders by 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 by 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 by 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

The contribution of X-linked coding variation to severe developmental disorders by Hilary C. Martin, Eugene J. Gardner, Kaitlin E. Samocha, Joanna Kaplanis, Nadia Akawi, Alejandro Sifrim, Ruth Y. Eberhardt, Ana Lisa Taylor Tavares, Matthew D. C. Neville, Mari E. K. Niemi, Giuseppe Gallone, Jeremy McRae, Deciphering Developmental Disorders Study, Caroline F. Wright, David R. FitzPatrick, Helen V. Firth, Matthew E. Hurles

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De novo missense substitutions in the gene encoding CDK8, a regulator of the Mediator complex, cause a syndromic developmental disorder by 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 by 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. 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

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome by 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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