Craniofrontonasal syndrome caused by introduction of a novel uATG in the 5′UTR of EFNB1 by Tavares, VL, Kague, E, Musso, CM, Alegria, TGP, Freitas, RS, Bertola, D, Twigg, SRF, Passos-Bueno, MR

Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders by Calpena, E, Wurmser, M, McGowan, S, Atique, R, Bertola, D, Cunningham, M, Gustafson, J, Johnson, D, Morton, J, Passos-Bueno, MR, Timberlake, A, Lifton, R, Wall, S, Twigg, S, Maire, P, Wilkie, AOM

A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects. by Favaro, F, Alvizi, L, Zechi-Ceide, R, Bertola, D, Felix, T, de Souza, J, Raskin, S, Twigg, SR, Weiner, A, Armas, P, Margarit, E, Calcaterra, N, Andersen, G, McGowan, S, Wilkie, A, Richieri-Costa, A, de Almeida, M, Passos-Bueno, MR

Mutations in MAP3K7 that alter the activity of the TAK1 signaling complex cause frontometaphyseal dysplasia. by Wade, E, Daniel, P, Jenkins, Z, McInerney-Leo, A, Morgan, T, Addor, M, Ades, L, Bertola, D, Bohring, A, Carter, E, Cho, T, Duba, H, Fletcher, E, Kim, C, Krakow, D, Morava, E, Neuhann, T, Superti-Furga, A, Veenstra-Knol, I, Wieczorek, D, Wilson, L, Hennekam, R, Sutherland-Smith, A, Strom, T, Wilkie, A, Brown, M, Duncan, E, Markie, D, Robertson, S

Mutations in MAP3K7 that alter the activity of the TAK1 signaling complex cause frontometaphyseal dysplasia by Wade, E, Daniel, P, Jenkins, Z, McInerney-Leo, A, Leo, P, Morgan, T, Addor, M, Adès, L, Bertola, D, Bohring, A, Carter, E, Cho, T, Duba, H, Fletcher, E, Kim, C, Krakow, D, Morava, E, Neuhann, T, Superti-Furga, A, Veenstra-Knol, I, Wieczorek, D, Wilson, L, Hennekam, R, Sutherland-Smith, A, Strom, T, Wilkie, A, Brown, M, Duncan, E, Markie, D, Robertson, S