Intrafamiliar clinical variability of circumferential skin creases Kunze type caused by a novel heterozygous mutation of N‐terminal TUBB gene von Dentici, M.L., Terracciano, A., Bellacchio, E., Capolino, R., Novelli, A., Digilio, M.C., Dallapiccola, B.

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Biallelic mutations in DYNC2LI1 are a rare cause of Ellis‐van Creveld syndrome von Niceta, M., Margiotti, K., Digilio, M.C., Guida, V., Bruselles, A., Pizzi, S., Ferraris, A., Memo, L., Laforgia, N., Dentici, M.L., Consoli, F., Torrente, I., Ruiz‐Perez, V.L., Dallapiccola, B., Marino, B., De Luca, A., Tartaglia, M.

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RASopathies: Clinical Diagnosis in the First Year of Life von Digilio, M.C., Lepri, F., Baban, A., Dentici, M.L., Versacci, P., Capolino, R., Ferese, R., De Luca, A., Tartaglia, M., Marino, B., Dallapiccola, B.

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Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog von Digilio, M.C., Pugnaloni, F., De Luca, A., Calcagni, G., Baban, A., Dentici, M.L., Versacci, P., Dallapiccola, B., Tartaglia, M., Marino, B.

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Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review von Agolini, E., Dentici, M.L., Bellacchio, E., Alesi, V., Radio, F.C., Torella, A., Musacchia, F., Tartaglia, M., Dallapiccola, B., Nigro, V., Digilio, M.C., Novelli, A.

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Congenital heart defects in the recurrent 2q13 deletion syndrome von Digilio, M.C., Dentici, M.L., Loddo, S., Laino, L., Calcagni, G., Genovese, S., Capolino, R., Bottillo, I., Calvieri, G., Dallapiccola, B., Marino, B., Novelli, A., Versacci, P.

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Supplementary Material for: Clinical variability of Shashi-Pena syndrome: A novel ASXL2 variant associated with overgrowth and minor neurodevelopmental features von C., Minotti, L., Graziani, A., Micalizzi, M.L., Dentici, R., Capolino, L., Sinibaldi, V., Lanari, B., Dallapiccola, G., Novelli, A., Novelli, M.C., Digilio

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SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling von Lin, Y.C., Niceta, M., Muto, V., Vona, B., Pagnamenta, A.T., Maroofian, R., Beetz, C., Duyvenvoorde, H. van, Dentici, M.L., Lauffer, P., Vallian, S., Ciolfi, A., Pizzi, S., Bauer, P., Gruning, N.M., Bellacchio, E., Fattore, A. del, Petrini, S., Shaheen, R., Tiosano, D., Halloun, R., Albayrak, H.M., Isik, E., Wit, J.M., Dittrich, M., Freire, B.L., Bertola, D.R., Jorge, A.A.L., Barel, O., Sabir, A.H., Tenaiji, A.M.J. al, Taji, S.M., Al-Sannaa, N., Al-Abdulwahed, H., Digilio, M.C., Irving, M., Anikster, Y., Bhavani, G.S.L., Girisha, K.M., Haaf, T., Taylor, J.C., Dallapiccola, B., Alkuraya, F.S., Yang, R.B., Tartaglia, M.

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Mutation update for the SATB2 gene von Zarate, Y.A, Bosanko, K.A, Caffrey, A.R, Bernstein, J.A, Martin, D.M, Williams, M.S, Berry-Kravis, E.M, Mark, P.R, Manning, M.A, Bhambhani, V, Vargas, M, Seeley, A.H, Estrada-Veras, J.I, van Dooren, M.F, Schwab, M, Vanderver, A, Melis, D, Alsadah, A, Sadler, L, Van Esch, H, Callewaert, B, Oostra, A, Maclean, J, Dentici, M.L, Orlando, V, Lipson, M, Sparagana, S.P, Maarup, T.J, Alsters, S.I, Brautbar, A, Thropp, E.K, Naidu, S, Lees, M, Smith, D.M, Turner, L, Raggio, V, Spangenberg, L, Garcia-Miñaúr, S, Roeder, E.R, Littlejohn, R.O, Grange, D, Pfotenhauer, J, Jones, M.C, Balasubramanian, M, Martinez-Monseny, A, Blok, L.S, Gavrilova, R, Fish, J.L

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