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Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders (Nature Communications, (2020), 11, 1, (4932), 10.1038/s41467-020-18723-y)

Autor: Wang, T., Hoekzema, K., Vecchio, Davide., Wu, H., Sulovari, A., Coe, B. P., Gillentine, M. A., Wilfert, A. B., Perez-Jurado, L. A., Kvarnung, M., Sleyp, Y., Earl, R. K., Rosenfeld, J. A., Geisheker, M. R., Han, L., Du, B., Barnett, C., Thompson, E., Shaw, M., Carroll, R., Friend, K., Catford, R., Palmer, E. E., Zou, X., Ou, J., Li, H., Guo, H., Gerdts, J., Avola, E., Calabrese, Giuseppe, Elia, Maurizio., Greco, Donatella, Lindstrand, A., Nordgren, A., Anderlid, B. -M., Vandeweyer, G., Van Dijck, A., Van der Aa, N., Mckenna, B., Hancarova, M., Bendova, S., Havlovicova, M., Malerba, G., Bernardina, B. D., Muglia, P., van Haeringen, A., Hoffer, M. J. V., Franke, B., Cappuccio, G., Delatycki, M., Lockhart, P. J., Manning, M. A., Liu, P., Scheffer, I. E., Brunetti-Pierri, N., Rommelse, N., Amaral, D. G., Santen, G. W. E., Trabetti, E., Sedlacek, Z., Michaelson, J. J., Pierce, K., Courchesne, E., Kooy, R. F., Acampado, J., Ace, A. J., Amatya, A., Astrovskaya, I., Bashar, A., Brooks, E., Butler, M. E., Cartner, L. A., Chin, W., Chung, W. K., Daniels, A. M., Feliciano, P., Fleisch, C., Ganesan, S., Jensen, W., Lash, A. E., Marini, R., Myers, V. J., O'Connor, E., Rigby, C., Robertson, B. E., Shah, N., Shah, S., Singer, E., Snyder, L. A. G., Stephens, A. N., Tjernagel, J., Vernoia, B. M., Volfovsky, N., White, L. C., Hsieh, A., Shen, Y., Zhou, X., Turner, T. N., Bahl, E., Thomas, T. R., Brueggeman, L., Koomar, T., O'Roak, B. J., Barnard, R. A., Gibbs, R. A., Muzny, D., Sabo, A., Ahmed, K. L. B., Eichler, E. E., Siegel, M., Abbeduto, L., Hilscher, B. A., Li, D., Smith, K., Thompson, S., Albright, C., Butter, E. M., Eldred, S., Hanna, N., Jones, M., Coury, D. L., Scherr, J., Pifher, T., Roby, E., Dennis, B., Higgins, L., Brown, M., Alessandri, M., Gutierrez, A., Hale, M. N., Herbert, L. M., Schneider, H. L., David, G., Annett, R. D., Sarver, D. E., Arriaga, I., Camba, A., Gulsrud, A. C., Haley, M., Mccracken, J. T., Sandhu, S., Tafolla, M., Yang, W. S., Carpenter, L. A., Bradley, C. C., Gwynette, F., Manning, P., Shaffer, R., Thomas, C., Bernier, R. A., Fox, E. A., Gerdts, J. A., Pepper, M., Ho, T., Cho, D., Piven, J., Lechniak, H., Soorya, L. V., Gordon, R., Wainer, A., Yeh, L., Ochoa-Lubinoff, C., Russo, N., Berry-Kravis, E., Booker, S., Erickson, C. A., Prock, L. M., Pawlowski, K. G., Matthews, E. T., Brewster, S. J., Hojlo, M. A., Abada, E., Lamarche, E., Murali, S. C., Harvey, W. T., Kaplan, H. E., Pierce, K. L., Demarco, L., Horner, S., Pandey, J., Plate, S., Sahin, M., Riley, K. D., Carmody, E., Constantini, J., Esler, A., Fatemi, A., Hutter, H., Landa, R. J., Mckenzie, A. P., Neely, J., Singh, V., Van Metre, B., Wodka, E. L., Fombonne, E. J., Huang-Storms, L. Y., Pacheco, L. D., Mastel, S. A., Coppola, L. A., Francis, S., Jarrett, A., Jacob, S., Lillie, N., Gunderson, J., Istephanous, D., Simon, L., Wasserberg, O., Rachubinski, A. L., Rosenberg, C. R., Kanne, S. M., Shocklee, A. D., Takahashi, N., Bridwell, S. L., Klimczac, R. L., Mahurin, M. A., Cotrell, H. E., Grant, C. A., Hunter, S. G., Martin, C. L., Taylor, C. M., Walsh, L. K., Dent, K. A., Mason, A., Sziklay, A., Smith, C. J., Nordenskjold, M., Romano, Corrado, Peeters, H., Gecz, J., Xia, K.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______4731::c5d650581cfcc65ae6de60d85932d940
http://hdl.handle.net/20.500.11769/525332

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

Autor: Dijck, A. van, Vulto-van Silfhout, A.T., Cappuyns, E., Werf, I.M. van der, Mancini, G.M., Tzschach, A., Bernier, R., Gozes, I., Eichler, E.E., Romano, C., Lindstrand, A., Nordgren, A., Kvarnung, M., Kleefstra, T., Vries, B.B.A. de, Kury, S., Rosenfeld, J.A., Meuwissen, M.E., Vandeweyer, G., Kooy, R.F., Bakshi, M., Wilson, M., Berman, Y., Dickson, R., Fransen, E., Helsmoortel, C., Ende, J. van den, Aa, N. van der, Wijdeven, M.J. van de, Rosenblum, J., Monteiro, F., Kok, F., Quercia, N., Bowdin, S., Dyment, D., Chitayat, D., Alkhunaizi, E., Boonen, S.E., Keren, B., Jacquette, A., Faivre, L., Bezieau, S., Isidor, B., Riess, A., Moog, U., Lynch, S.A., McVeigh, T., Elpeleg, O., Smeland, M.F., Fannemel, M., Haeringen, A. van, Maas, S.M., Veenstra-Knol, H.E., Schouten, M., Willemsen, M.H., Marcelis, C.L., Ockeloen, C., Burgt, I. van der, Feenstra, I., Smagt, J. van der, Jezela-Stanek, A., Krajewska-Walasek, M., Gonzalez-Lamuno, D., Anderlid, B.M., Malmgren, H., Nordenskjold, M., Clement, E., Hurst, J., Metcalfe, K., Mansour, S., Lachlan, K., Clayton-Smith, J., Hendon, L.G., Abdulrahman, O.A., Morrow, E., McMillan, C., Gerdts, J., Peeden, J., Vergano, S.A.S., Valentino, C., Chung, W.K., Ozmore, J.R., Bedrosian-Sermone, S., Dennis, A., Treat, K., Hughes, S.S., Safina, N., Pichon, J.B. le, McGuire, M., Infante, E., Madan-Khetarpal, S., Desai, S., Benke, P., Krokosky, A., Cristian, I., Baker, L., Gripp, K., Stessman, H.A., Eichenberger, J., Jayakar, P., Pizzino, A., Manning, M.A., Slattery, L., ADNP Consortium

Publikováno v: Biological Psychiatry, 85(4), 287-297. ELSEVIER SCIENCE INC
Biological Psychiatry Volume 85, Issue 4, 15 February 2019, Pages 287-297
UCrea Repositorio Abierto de la Universidad de Cantabria
Universidad de Cantabria (UC)
Biological Psychiatry, 85, 4, pp. 287-297
Biological Psychiatry, 85(4), 287. Elsevier USA
Biological psychiatry
Biological Psychiatry, 85, 287-297
Biological psychiatry, 85(4), 287-297. Elsevier USA
Biological Psychiatry, 85(4), 287-297. Elsevier Inc.

Background In genome-wide screening studies for de novo mutations underlying autism and intellectual disability, mutations in the ADNP gene are consistently reported among the most frequent. ADNP mutations have been identified in children with autism

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::517869385daa59216cda03fc628eb520
http://hdl.handle.net/1887/122773

Diagnostic implications of genetic copy number variation in epilepsy plus

Autor: Coppola, A1, 2, 3, Cellini, E4, Stamberger, H5, 6, 7, Saarentaus, E8, 9, 10, Cetica, V4, Lal, D10, 11, 12, Djémié, T5, 6, Bartnik-Glaska, M13, Ceulemans, B14, Cross, JH15, 16, 17, Deconinck, T5, De Masi S7, Dorn, T18, Guerrini, R, Hoffman-Zacharska, D14, Kooy, F19, Lagae, L20, Lench, N21, Lemke, JR22, Lucenteforte, E23, Madia, F25, Mefford, HC26, Morrogh, D21, Nuernberg, P27, Palotie, A11, Schoonjans, AS15, Striano, P28, Szczepanik, E29, Tostevin, A1, 2, Vermeesch, JR30, Van Esch H30, Van Paesschen W31, Waters, JJ21, Weckhuysen, S5, 6, 12, Zara, F25, De Jonghe P5, Sisodiya, SM1, Marini, C, EuroEPINOMICS-RES, Consortium, Lehesjioki AE, EpiCNV Consortium., Craiu, D, Talvik, T, Caglayan, H, Serratosa, J, Sterbova, K, Møller, Rs, Hjalgrim, H, Lerche, H, Weber, Y, Helbig, I, von Spiczak, S, Barba, C, Bogaerts, A, Boni, A, Galizia, Ec, Chiari, S, Di Gacomo, G, Ferrari, A, Garducci, S, Giglio, S, Holmgren, P, Leu, C, Melani, F, Novara, F, Pantaleo, M, Peeters, E, Pisano, T, Rosati, A, Sander, J, Schoeler, N, Stankiewicz, P, Striano, S, Suls, A, Traverso, M, Vandeweyer, G, Van Dijck, A, Zuffardi, O.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______310::f19bf33fc433d1bda7a5b68d46c573bb
http://hdl.handle.net/2158/1151042