Filadelfia

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    Explore the research areas in which Filadelfia is active. The research areas are based on the department’s research output in the portal. Together the research areas form a unique ‘fingerprint’, which reflects the entire department’s professional profile.
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    • Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations

      Jeanne, M., Ronce, N., Remizé, S., Arpin, S., Baujat, G., Breton, S., Petit, F., Vanlerberghe, C., Coeslier-Dieux, A., Manouvrier-Hanu, S., Vincent-Delorme, C., Khau Van Kien, P., Van-Gils, J., Quélin, C., Pasquier, L., Odent, S., Demurger, F., Laffargue, F., Francannet, C. & Martin-Coignard, D. & 37 others, Afenjar, A., Whalen, S., Verloes, A., Capri, Y., Delahaye, A., Plaisancié, J., Labrune, P., Destree, A., Maystadt, I., Ciorna Monferrato, V., Isidor, B., Vincent, M., Jean Marçais, N., Nambot, S., Schaefer, E., El Chehadeh, S., Lespinasse, J., Collignon, P., Busa, T., Philip, N., Willems, M., Planes, M., Vanakker, O. M., Lambert, L., Leheup, B., Mathieu-Dramard, M., Morin, G., Dieterich, K., Ginglinger, E., Bayat, A., Balasubramanian, M., Dauriat, B., Haye, D., Amiel, J., Rio, M., Cormier-Daire, V. & Toutain, A., 20 Mar 2025, In: Journal of medical genetics. 62, 4, p. 258-267 10 p.

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

    • Amitriptyline use in individuals with KCNQ2/3 gain-of-function variants: A retrospective cohort study

      De Wachter, M., Millevert, C., Nicolai, J., Cats, E., Kluger, G., Milh, M., Cloarec, R., Syrbe, S., Arts, K., Jansen, K., Krygier, M., Smigiel, R., Auvin, S., Olofson, K., Gjerulfsen, C. E., Ceulemans, B., Møller, R. S., Bayat, A. & Weckhuysen, S., May 2025, In: Epilepsia. 66, 5, p. 1628-1640 13 p.

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

      Open Access

    • Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci

      Hildonen, M., Ciolfi, A., Ferilli, M., Cappelletti, C., Al Alam, C., Amor, D. J., Barakat, T. S., Benoit, V., Birk, O. S., Callewaert, B., Cazurro-Gutiérrez, A., De Wachter, M., Doco-Fenzy, M., Gómez-Puertas, P., Hammer, T. B., Jamra, R. A., Kaiyrzhanov, R., Kameyama, S., Keren, B. & Kresge, C. & 21 others, Krey, I., Lederer, D., Marcos-Alcalde, I., Maroofian, R., Matsumoto, N., Mizuguchi, T., Moey, L.-H., Morgan, A., Munell, F., Platzer, K., Pletcher, B. A., Ros-Pardo, D., Rumping, L., Szakszon, K., Van Schil, K., Verdura, E., Vogt, J., Wassmer, E., Zamani, M., Tümer, Z. & Tartaglia, M., 23 May 2025, In: European Journal of Human Genetics. 8 p.

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

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