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Miguel E Fiol

1975 …2024

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  • The role of copy number variants in the genetic architecture of common familial epilepsies

    Epi4K Consortium, Mar 2024, In: Epilepsia. 65, 3, p. 792-804 13 p.

    Research output: Contribution to journal › Article › peer-review

  • Association of ultra-rare coding variants with genetic generalized epilepsy: A case–control whole exome sequencing study

    Canadian Epilepsy Network, Epi4K Consortium, Epilepsy Phenome/Genome Project, EpiPGX Consortium & EuroEPINOMICS-CoGIE Consortium, Mar 2022, In: Epilepsia. 63, 3, p. 723-735 13 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    10 Scopus citations

  • Diverse genetic causes of polymicrogyria with epilepsy

    Epilepsy Phenome/Genome Project, Epi4K Consortium, Apr 2021, In: Epilepsia. 62, 4, p. 973-983 11 p.

    Research output: Contribution to journal › Article › peer-review

    17 Scopus citations

  • Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data

    Allen, A. S., Berkovic, S. F., Bridgers, J., Cossette, P., Dlugos, D., Epstein, M. P., Glauser, T., Goldstein, D. B., Heinzen, E. L., Jiang, Y., Johnson, M. R., Kuzniecky, R., Lowenstein, D. H., Marson, A. G., Mefford, H. C., O'Brien, T. J., Ottman, R., Petrou, S., Petrovski, S., Poduri, A., & 33 othersRen, Z., Scheffer, I. E., Sherr, E., Wang, Q., Balling, R., Barisic, N., Baulac, S., Caglayan, H., Craiu, D., De Jonghe, P., Depienne, C., Guerrini, R., Helbig, I., Hjalgrim, H., Hoffman-Zacharska, D., Jähn, J., Klein, K. M., Koeleman, B., Komarek, V., Krause, R., Leguern, E., Lehesjoki, A. E., Lemke, J. R., Lerche, H., Linnankivi, T., Marini, C., May, P., Møller, R. S., Muhle, H., Fiol, M. E., Epi4K Consortium, Epilepsy Phenome Genome Project & EuroEPINOMICS-RES Consortium, Jun 1 2017, In: European Journal of Human Genetics. 25, 7, p. 894-899 6 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    7 Scopus citations

  • Erratum: De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies (American Journal of Human Genetics (2014) 95(4) (360–370)(S0002929714003838)(10.1016/j.ajhg.2014.08.013))

    Appenzeller, S., Balling, R., Barisic, N., Baulac, S., Caglayan, H., Craiu, D., De Jonghe, P., Depienne, C., Dimova, P., Djémié, T., Gormley, P., Guerrini, R., Helbig, I., Hjalgrim, H., Hoffman-Zacharska, D., Jähn, J., Klein, K. M., Koeleman, B., Komarek, V., Krause, R., & 111 othersKuhlenbäumer, G., Leguern, E., Lehesjoki, A. E., Lemke, J. R., Lerche, H., Linnankivi, T., Marini, C., May, P., Møller, R. S., Muhle, H., Pal, D., Palotie, A., Pendziwiat, M., Robbiano, A., Roelens, F., Rosenow, F., Selmer, K., Serratosa, J. M., Sisodiya, S., Stephani, U., Sterbova, K., Striano, P., Suls, A., Talvik, T., von Spiczak, S., Weber, Y., Weckhuysen, S., Zara, F., Abou-Khalil, B., Alldredge, B. K., Andermann, E., Andermann, F., Amrom, D., Bautista, J. F., Berkovic, S. F., Bluvstein, J., Boro, A., Cascino, G., Consalvo, D., Crumrine, P., Devinsky, O., Dlugos, D., Epstein, M. P., Fiol, M., Fountain, N. B., French, J., Friedman, D., Geller, E. B., Glauser, T., Glynn, S., Haas, K., Haut, S. R., Hayward, J., Helmers, S. L., Joshi, S., Kanner, A., Kirsch, H. E., Knowlton, R. C., Kossoff, E. H., Kuperman, R., Kuzniecky, R., Lowenstein, D. H., McGuire, S. M., Motika, P. V., Novotny, E. J., Ottman, R., Paolicchi, J. M., Parent, J., Park, K., Poduri, A., Sadleir, L., Scheffer, I. E., Shellhaas, R. A., Sherr, E., Shih, J. J., Singh, R., Sirven, J., Smith, M. C., Sullivan, J., Thio, L. L., Venkat, A., Vining, E. P. G., Von Allmen, G. K., Weisenberg, J. L., Widdess-Walsh, P., Winawer, M. R., Allen, A. S., Berkovic, S. F., Cossette, P., Delanty, N., Dlugos, D., Eichler, E. E., Epstein, M. P., Glauser, T., Goldstein, D. B., Han, Y., Heinzen, E. L., Johnson, M. R., Kuzniecky, R., Lowenstein, D. H., Marson, A. G., Mefford, H. C., Nieh, S. E., O'Brien, T. J., Ottman, R., Petrou, S., Petrovski, S., Poduri, A., Ruzzo, E. K., Scheffer, I. E. & Sherr, E., Jan 5 2017, In: American Journal of Human Genetics. 100, 1, p. 179 1 p.

    Research output: Contribution to journal › Comment/debate › peer-review

    Open Access
    2 Scopus citations
View all 23 Research outputs