Marchegiani, S., Davis, T., Tessadori, F., van Haaften, G., Brancati, F., Hoischen, A., Huang, H., Valkanas, E., Pusey, B., Schanze, D., Venselaar, H., Vulto-van Silfhout, A.T., Wolfe, L.A., Tifft, C.J., Zerfas, P.M., Zambruno, G., Kariminejad, A., Sabbagh-Kermani, F., Lee, J., Tsokos, M.G., Lee, C.R., Ferraz, V., da Silva, E.M., Stevens, C.A., Roche, N., Bartsch, O., Farndon, P., Bermejo-Sanchez, E., Brooks, B.P., Maduro, V., Dallapiccola, B., Ramos, F.J., Chung, H.B., Le Caignec, C., Martins, F., Jacyk, W.K., Mazzanti, L., Brunner, H.G., Bakkers, J., Lin, S., Malicdan, M.C., Boerkoel, C.F., Gahl, W.A., de Vries, B.B., van Haelst, M.M., Zenker, M., Markello, T.C. (2015) Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes. American journal of human genetics. 97(1):99-110

Marchegiani, S., Davis, T., Tessadori, F., van Haaften, G., Brancati, F., Hoischen, A., Huang, H., Valkanas, E., Pusey, B., Schanze, D., Venselaar, H., Vulto-van Silfhout, A.T., Wolfe, L.A., Tifft, C.J., Zerfas, P.M., Zambruno, G., Kariminejad, A., Sabbagh-Kermani, F., Lee, J., Tsokos, M.G., Lee, C.R., Ferraz, V., da Silva, E.M., Stevens, C.A., Roche, N., Bartsch, O., Farndon, P., Bermejo-Sanchez, E., Brooks, B.P., Maduro, V., Dallapiccola, B., Ramos, F.J., Chung, H.B., Le Caignec, C., Martins, F., Jacyk, W.K., Mazzanti, L., Brunner, H.G., Bakkers, J., Lin, S., Malicdan, M.C., Boerkoel, C.F., Gahl, W.A., de Vries, B.B., van Haelst, M.M., Zenker, M., Markello, T.C. (2015) Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes. American journal of human genetics. 97(1):99-110