20012019

Research output per year

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Fingerprint Dive into the research topics where Ornella Galesi is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

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Research Output

  • Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

    Guo, H., Li, Y., Shen, L., Wang, T., Jia, X., Liu, L., Xu, T., Ou, M., Hoekzema, K., Wu, H., Gillentine, M. A., Liu, C., Ni, H., Peng, P., Zhao, R., Zhang, Y., Phornphutkul, C., Stegmann, A. P. A., Prada, C. E., Hopkin, R. J. & 30 others, Shieh, J. T., McWalter, K., Monaghan, K. G., van Hasselt, P. M., van Gassen, K., Bai, T., Long, M., Han, L., Quan, Y., Chen, M., Zhang, Y., Li, K., Zhang, Q., Tan, J., Zhu, T., Liu, Y., Pang, N., Peng, J., Scott, D. A., Lalani, S. R., Azamian, M., Mancini, G. M. S., Adams, D. J., Kvarnung, M., Lindstrand, A., Nordgren, A., Pevsner, J., Romano, C., Calabrese, G. & Galesi, O., Sep 25 2019, In : Science Advances. 5, 9, eaax2166.

    Research output: Contribution to journalArticle

  • Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

    Pizzo, L., Jensen, M., Polyak, A., Rosenfeld, J. A., Mannik, K., Krishnan, A., McCready, E., Pichon, O., Le Caignec, C., Van Dijck, A., Pope, K., Voorhoeve, E., Yoon, J., Stankiewicz, P., Cheung, S. W., Pazuchanics, D., Huber, E., Kumar, V., Kember, R. L., Mari, F. & 36 others, Curró, A., Castiglia, L., Galesi, O., Avola, E., Mattina, T., Fichera, M., Mandarà, L., Vincent, M., Nizon, M., Mercier, S., Bénéteau, C., Blesson, S., Martin-Coignard, D., Mosca-Boidron, A. L., Caberg, J. H., Bucan, M., Zeesman, S., Nowaczyk, M. J. M., Lefebvre, M., Faivre, L., Callier, P., Skinner, C., Keren, B., Perrine, C., Prontera, P., Marle, N., Renieri, A., Reymond, A., Kooy, R. F., Isidor, B., Schwartz, C., Romano, C., Sistermans, E., Amor, D. J., Andrieux, J. & Girirajan, S., Jan 1 2018, (Accepted/In press) In : Genetics in Medicine.

    Research output: Contribution to journalArticle

  • Identification of novel mutations in L1CAM gene by a DHPLC-based assay

    Vinci, M., Falco, M., Castiglia, L., Grillo, L., Spalletta, A., Sturnio, M., Galesi, O., Salemi, M., Gloria, A., Amata, S., Piccione, M., Antona, V., Vitello, G. A. & Fichera, M., Aug 9 2016, (Accepted/In press) In : Genes and Genomics. p. 1-6 6 p.

    Research output: Contribution to journalArticle