학술논문

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling
Document Type
Article
Author
Morleo, M.Venditti, R.Tammaro, R.Nigro, V.Torella, A.Ferrante, L.Cetrangolo, V.Franco, B.Tirozzi, A.Theodorou, E.Briere, L.C.Sweetser, D.A.Rosello, M.Al-Badri, N.Putti, E.Del Bene, F.High, F.A.Shi, J.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.Acosta, M.T.Adam, M.Adams, D.R.Alvarez, R.L.Alvey, J.Amendola, L.Andrews, A.Ashley, E.A.Bacino, C.A.Bademci, G.Balasubramanyam, A.Baldridge, D.Bale, J.Bamshad, M.Barbouth, D.Bayrak-Toydemir, P.Beck, A.Beggs, A.H.Behrens, E.Bejerano, G.Bellen, H.J.Bennett, J.Berg-Rood, B.Bernstein, J.A.Berry, G.T.Bican, A.Bivona, S.Blue, E.Bohnsack, J.Bonner, D.Botto, L.Boyd, B.Brown, G.Burke, E.A.Burrage, L.C.Butte, M.J.Byers, P.Byrd, W.E.Carey, J.Carrasquillo, O.Cassini, T.Chang, T.C.P.Chanprasert, S.Chao, H.-T.Clark, G.D.Coakley, T.R.Cobban, L.A.Cogan, J.D.Coggins, M.Cole, F.S.Colley, H.A.Cooper, C.M.Cope, H.Corona, R.Craigen, W.J.Crouse, A.B.Cunningham, M.D'Souza, P.Dai, H.Dasari, S.Davis, J.Dayal, J.G.Dell'Angelica, E.C.Dipple, K.Doherty, D.Dorrani, N.Doss, A.L.Douine, E.D.Earl, D.Eckstein, D.J.Emrick, L.T.Eng, C.M.Falk, M.Fieg, E.L.Fisher, P.G.Fogel, B.L.Forghani, I.Gahl, W.A.Glass, I.Gochuico, B.Goddard, P.C.Godfrey, R.A.Golden-Grant, K.Grajewski, A.Hadley, D.Hahn, S.Halley, M.C.Hamid, R.Hassey, K.Hayes, N.High, F.Hing, A.Hisama, F.M.Holm, I.A.Hom, J.Horike-Pyne, M.Huang, A.Hutchison, S.Introne, W.Isasi, R.Izumi, K.Jamal, F.Jarvik, G.P.Jarvik, J.Jayadev, S.Jean-Marie, O.Jobanputra, V.Karaviti, L.Ketkar, S.Kiley, D.Kilich, G.Kobren, S.N.Kohane, I.S.Kohler, J.N.Korrick, S.Kozuira, M.Krakow, D.Krasnewich, D.M.Kravets, E.Lalani, S.R.Lam, B.Lam, C.Lanpher, B.C.Lanza, I.R.LeBlanc, K.Lee, B.H.Levitt, R.Lewis, R.A.Liu, P.Liu, X.Z.Longo, N.Loo, S.K.Loscalzo, J.Maas, R.L.Macnamara, E.F.MacRae, C.A.Maduro, V.V.Maghiro, A.Mahoney, R.Malicdan, M.C.V.Mamounas, L.A.Manolio, T.A.Mao, R.Maravilla, K.Marom, R.Marth, G.Martin, B.A.Martin, M.G.Martínez-Agosto, J.A.Marwaha, S.McCauley, J.McConkie-Rosell, A.McCray, A.T.McGee, E.Mefford, H.Merritt, J.L.Might, M.Mirzaa, G.Morava, E.Moretti, P.Mulvihill, J.Nakano-Okuno, M.Nelson, S.F.Newman, J.H.Nicholas, S.K.Nickerson, D.Nieves-Rodriguez, S.Novacic, D.Oglesbee, D.Orengo, J.P.Pace, L.Pak, S.Pallais, J.C.Palmer, C.G.S.Papp, J.C.Parker, N.H.Phillips III, J.A.Posey, J.E.Potocki, L.Pusey Swerdzewski, B.N.Quinlan, A.Rao, D.A.Raper, A.Raskind, W.Renteria, G.Reuter, C.M.Rives, L.Robertson, A.K.Rodan, L.H.Rosenfeld, J.A.Rosenwasser, N.Rossignol, F.Ruzhnikov, M.Sacco, R.Sampson, J.B.Saporta, M.Schaechter, J.Schedl, T.Schoch, K.Scott, D.A.Scott, C.R.Shashi, V.Shin, J.Silverman, E.K.Sinsheimer, J.S.Sisco, K.Smith, E.C.Smith, K.S.Solnica-Krezel, L.Solomon, B.Spillmann, R.C.Stoler, J.M.Sullivan, K.Sullivan, J.A.Sun, A.Sutton, S.Sybert, V.Tabor, H.K.Tan, Q.K.-G.Tan, A.L.M.Tekin, M.Telischi, F.Thorson, W.Tifft, C.J.Toro, C.Tran, A.A.Ungar, R.A.Urv, T.K.Vanderver, A.Velinder, M.Viskochil, D.Vogel, T.P.Wahl, C.E.Walker, M.Wallace, S.Walley, N.M.Wambach, J.Wan, J.Wang, L.-K.Wangler, M.F.Ward, P.A.Wegner, D.Weisz Hubshman, M.Wener, M.Wenger, T.Westerfield, M.Wheeler, M.T.Whitlock, J.Wolfe, L.A.Worley, K.Xiao, C.Yamamoto, S.Yang, J.Zhang, Z.Zuchner, S.Spampanato, C.Pinelli, M.Banfi, S.Varavallo, A.Selicorni, A.Mariani, M.Massimello, M.Daolio, C.Capra, V.Accogli, A.Scala, M.Leuzzi, V.Nardecchia, F.Galosi, S.Mastrangelo, M.Milani, D.Vitiello, G.Piluso, G.Romano, C.Failla, P.Greco, D.Pantaleoni, C.Ciaccio, C.D'Arrigo, S.Brunetti Pierri, N.Parenti, G.Coppola, A.Mattina, T.Amenta, S.Tummolo, A.Santoro, C.Grandone, A.De Brasi, D.Varone, A.Garavelli, L.Marini, C.Bigoni, S.Piscopo, C.Trabacca, A.De Rinaldis, M.Peron, A.
Source
In: American Journal of Human Genetics. (American Journal of Human Genetics, 3 August 2023, 110(8):1377-1393)
Subject
Language
English
ISSN
15376605
00029297