How genetically heterogeneous is Kabuki syndrome: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum by Banka, S, Veeramachaneni, R, Reardon, W, Howard, E, Bunstone, S, Ragge, N, Parker, M, Crow, Y, Kerr, B, Kingston, H, Metcalfe, K, Chandler, K, Magee, A, Stewart, F, McConnell, V, Donnelly, D, Berland, S, Houge, G, Morton, J, Oley, C, Revencu, N, Park, S, Davies, S, Fry, A, Lynch, SA

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