20002018

Research output per year

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Research Output

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

  • Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains

    Geisheker, M. R., Heymann, G., Wang, T., Coe, B. P., Turner, T. N., Stessman, H. A. F., Hoekzema, K., Kvarnung, M., Shaw, M., Friend, K., Liebelt, J., Barnett, C., Thompson, E. M., Haan, E., Guo, H., Anderlid, B-M., Nordgren, A., Lindstrand, A., Vandeweyer, G., Alberti, A. & 20 others, Avola, E., Vinci, M., Giusto, S., Pramparo, T., Pierce, K., Nalabolu, S., Michaelson, J. J., Sedlacek, Z., Santen, G. W. E., Peeters, H., Hakonarson, H., Courchesne, E., Romano, C., Kooy, R. F., Bernier, R. A., Nordenskjöld, M., Gecz, J., Xia, K., Zweifel, L. S. & Eichler, E. E., 2017, In : Nature Neuroscience. 20, 8, p. 1043-1051 9 p.

    Research output: Contribution to journalArticle

    Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

    Stessman, H. A. F., Xiong, B., Coe, B. P., Wang, T., Hoekzema, K., Fenckova, M., Kvarnung, M., Gerdts, J., Trinh, S., Cosemans, N., Vives, L., Lin, J., Turner, T. N., Santen, G., Ruivenkamp, C., Kriek, M., Van Haeringen, A., Aten, E., Friend, K., Liebelt, J. & 33 others, Barnett, C., Haan, E., Shaw, M., Gecz, J., Anderlid, B-M., Nordgren, A., Lindstrand, A., Schwartz, C., Kooy, R. F., Vandeweyer, G., Helsmoortel, C., Romano, C., Alberti, A., Vinci, M., Avola, E., Giusto, S., Courchesne, E., Pramparo, T., Pierce, K., Nalabolu, S., Amaral, D. G., Scheffer, I. E., Delatycki, M. B., Lockhart, P. J., Hormozdiari, F., Harich, B., Castells-Nobau, A., Xia, K., Peeters, H., Nordenskjöld, M., Schenck, A., Bernier, R. A. & Eichler, E. E., 2017, In : Nature Genetics. 49, 4, p. 515-526 12 p.

    Research output: Contribution to journalArticle

    The Koolen-de Vries syndrome: A phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

    Koolen, D. A., Pfundt, R., Linda, K., Beunders, G., Veenstra-Knol, H. E., Conta, E. H., Fortuna, A. M., Gillessen-Kaesbach, G., Dugan, S., Halbach, S., Abdul-Rahman, O. A., Winesett, H. M., Chung, W. K., Dalton, M., Dimova, P. S., Mattina, T., Prescott, K., Zhang, H. Z., Saal, H. M., Hehir-Kwa, J. Y. & 29 others, Willemsen, M. H., Ockeloen, C. W., Jongmans, M. C., Van Der Aa, N., Failla, P., Barone, C., Avola, E., Brooks, A. S., Kant, S. G., Gerkes, E. H., Firth, H. V., Unap, K., Bird, L. M., Masser-Frye, D., Friedman, J. R., Sokunbi, M. A., Dixit, A., Splitt, M., Kukolich, M. K., McGaughran, J., Coe, B. P., Flórez, J., Nadif Kasr, N., Brunner, H. G., Thompson, E. M., Gecz, J., Romano, C., Eichler, E. E. & De Vries, B. B. A., May 1 2016, In : European Journal of Human Genetics. 24, 5, p. 652-659 8 p.

    Research output: Contribution to journalArticle

  • Recurrent duplications of 17q12 associated with variable phenotypes

    Mitchell, E., Douglas, A., Kjaegaard, S., Callewaert, B., Vanlander, A., Janssens, S., Yuen, A. L., Skinner, C., Failla, P., Alberti, A., Avola, E., Fichera, M., Kibaek, M., Digilio, M. C., Hannibal, M. C., den Hollander, N. S., Bizzarri, V., Renieri, A., Mencarelli, M. A., Fitzgerald, T. & 12 others, Piazzolla, S., van Oudenhove, E., Romano, C., Schwartz, C., Eichler, E. E., Slavotinek, A., Escobar, L., Rajan, D., Crolla, J., Carter, N., Hodge, J. C. & Mefford, H. C., Dec 1 2015, In : American Journal of Medical Genetics, Part A. 167, 12, p. 3038-3045 8 p.

    Research output: Contribution to journalArticle