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Collaborations and top research areas from the last five years

Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
  • Developmental epileptic encephalopathy in DLG4-related synaptopathy

    Kassabian, B., Levy, A. M., Gardella, E., Aledo-Serrano, A., Ananth, A. L., Brea-Fernández, A. J., Caumes, R., Chatron, N., Dainelli, A., De Wachter, M., Denommé-Pichon, A-S., Dye, T. J., Fazzi, E., Felt, R., Fernández-Jaén, A., Fernández-Prieto, M., Gantz, E., Gasperowicz, P., Gil-Nagel, A., Gómez-Andrés, D., & 44 othersGreiner, H. M., Guerrini, R., Haanpää, M. K., Helin, M., Hoyer, J., Hurst, A. C. E., Kallish, S., Karkare, S. N., Khan, A., Kleinendorst, L., Koch, J., Kothare, S. V., Koudijs, S. V., Lagae, L., Lakeman, P., Leppig, K. A., Lesca, G., Lopergolo, D., Lusk, L., Mackenzie, A., Mei, D., Møller, R. S., Pereira, E. M., Platzer, K., Quelin, C., Revah-Politi, A., Rheims, S., Rodríguez-Palmero, A., Rossi, A., Santorelli, F., Seinfeld, S., Sell, E., Stephenson, D., Szczaluba, K., Trinka, E., Umair, M., Van Esch, H., van Haelst, M. M., Veenma, D. C. M., Weber, S., Weckhuysen, S., Zacher, P., Tümer, Z. & Rubboli, G., 22 Dec 2023, (E-pub ahead of print) In: Epilepsia.

    Research output: Contribution to journalArticleAcademicpeer-review

  • Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711

    Wang, J., Foroutan, A., Richardson, E., Skinner, S. A., Reilly, J., Kerkhof, J., Curry, C. J., Tarpey, P. S., Robertson, S. P., Maystadt, I., Keren, B., Dixon, J. W., Skinner, C., Stapleton, R., Ruaud, L., Gumus, E., Lakeman, P., Alders, M., Tedder, M. L., Schwartz, C. E., & 3 othersFriez, M. J., Sadikovic, B. & Stevenson, R. E., 1 Apr 2022, In: European journal of human genetics. 30, 4, p. 420-427 8 p.

    Research output: Contribution to journalArticleAcademicpeer-review

    5 Citations (Scopus)
  • Dynamics of reproductive genetic technologies: Perspectives of professional stakeholders

    van Dijke, I., van el, C. G., Lakeman, P., Goddijn, M., Rigter, T., Cornel, M. C. & Henneman, L., 1 Jun 2022, In: PLOS ONE. 17, 6 June, e0269719.

    Research output: Contribution to journalArticleAcademicpeer-review

    Open Access
  • Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

    Johannesen, K. M., Liu, Y., Koko, M., Gjerulfsen, C. E., Sonnenberg, L., Schubert, J., Fenger, C. D., Eltokhi, A., Rannap, M., Koch, N. A., Lauxmann, S., Krüger, J., Kegele, J., Canafoglia, L., Franceschetti, S., Mayer, T., Rebstock, J., Zacher, P., Ruf, S., Alber, M., & 109 othersSterbova, K., Lassuthová, P., Vlckova, M., Lemke, J. R., Platzer, K., Krey, I., Heine, C., Wieczorek, D., Kroell-Seger, J., Lund, C., Klein, K. M., Au, P. Y. B., Rho, J. M., Ho, A. W., Masnada, S., Veggiotti, P., Giordano, L., Accorsi, P., Hoei-Hansen, C. E., Striano, P., Zara, F., Verhelst, H., Verhoeven, J. S., Braakman, H. M. H., van der Zwaag, B., Harder, A. V. E., Brilstra, E., Pendziwiat, M., Lebon, S., Vaccarezza, M., le, N. M., Christensen, J., Grønborg, S., Scherer, S. W., Howe, J., Fazeli, W., Howell, K. B., Leventer, R., Stutterd, C., Walsh, S., Gerard, M., Gerard, B. N., Matricardi, S., Bonardi, C. M., Sartori, S., Berger, A., Hoffman-Zacharska, D., Mastrangelo, M., Darra, F., Vøllo, A., Motazacker, M. M., Lakeman, P., Nizon, M., Betzler, C., Altuzarra, C., Caume, R., Roubertie, A., Gélisse, P., Marini, C., Guerrini, R., Bilan, F., Tibussek, D., Koch-Hogrebe, M., Perry, M. S., Ichikawa, S., Dadali, E., Sharkov, A., Mishina, I., Abramov, M., Kanivets, I., Korostelev, S., Kutsev, S., Wain, K. E., Eisenhauer, N., Wagner, M., Savatt, J. M., Müller-Schlüter, K., Bassan, H., Borovikov, A., Nassogne, M. C., Destrée, A., Schoonjans, A. S., Meuwissen, M., Buzatu, M., Jansen, A., Scalais, E., Srivastava, S., Tan, W. H., Olson, H. E., Loddenkemper, T., Poduri, A., Helbig, K. L., Helbig, I., Fitzgerald, M. P., Goldberg, E. M., Roser, T., Borggraefe, I., Brünger, T., May, P., Lal, D., Lederer, D., Rubboli, G., Heyne, H. O., Lesca, G., Hedrich, U. B. S., Benda, J., Gardella, E., Lerche, H. & Møller, R. S., 14 Sept 2022, In: Brain. 145, 9, p. 2991-3009 19 p.

    Research output: Contribution to journalArticleAcademicpeer-review

    Open Access
    45 Citations (Scopus)
  • Patient perspectives on reproductive options for hereditary angioedema: A cross-sectional survey study

    Fijen, L. M., Petersen, R. S., Levi, M., Lakeman, P., Henneman, L. & Cohn, D. M., Sept 2022, In: Journal of Allergy and Clinical Immunology: In Practice. 10, 9, p. 2483-2486.e1

    Research output: Contribution to journalArticleAcademicpeer-review

    Open Access
    3 Citations (Scopus)