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Morleo, M., Venditti, R., Theodorou, E., Briere, L.C., Rosello, M., Tirozzi, A., Tammaro, R., Al-Badri, N., High, F.A., Shi, J., Undiagnosed Diseases Network, Telethon Undiagnosed Diseases Program, Putti, E., Ferrante, L., Cetrangolo, V., Torella, A., Walker, M.A., Tenconi, R., Iascone, M., Mei, D., Guerrini, R., van der Smagt, J., Kroes, H.Y., van Gassen, K.L.I., Bilal, M., Umair, M., Pingault, V., Attie-Bitach, T., Amiel, J., Ejaz, R., Rodan, L., Zollino, M., Agrawal, P.B., Del Bene, F., Nigro, V., Sweetser, D.A., Franco, B. (2023) De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling. American journal of human genetics. 110(8):1377-1393