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Christina Dühring Fenger

    20192026

    Research activity per year

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    Explore the research areas in which Christina Dühring Fenger is active. The research areas are based on the researcher's research output in the portal. Combined, the research areas form a unique ‘fingerprint’, which reflects the researcher's professional profile.
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    • Biallelic variants in CELSR1 cause brain malformations, neurodevelopmental disorders and epilepsy in humans

      Bonardi, C. M., Møller, R. S., Ruiz-Reig, N., Chai, G., Madsen, C. G., Bayat, A., Hammer, T. B., Fenger, C. D., Gardella, E., Gawlinski, P., Dawidziuk, M., Wiszniewski, W., Bekiesinska-Figatowska, M., Cabet, S., Rossi, M., Lesca, G., Gouy, E., Jepsen, B., Mieszczanek, T. S. & Sanchez Russo, R. & 8 others, Barr, E. E., Õunap, K., Ilves, P., Wojcik, M. H., Aittaleb, M., Brusgaard, K., Tissir, F. & Rubboli, G., 13 Jan 2026, In: Nature communications. 17, 1, 862.

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

      Open Access

    • Delineation of a Novel Mirror Syndrome: NFIC Variants Cause Syndromic Intellectual Disability With Macrocephaly

      Vanden Eynde, N., Hérissant, L., Landais, E., Egloff, M., Rio, M., Baujat, G., Giuliano, F., Karmous-Benailly, H., Coutton, C., Satre, V., Vieville, G., Kuentz, P., Nizon, M., Beneteau, C., Isidor, B., Callier, P., Marquet, V., Bieth, E., Lévy, J. & Tabet, A.-C. & 20 others, Cartault, F., Scheidecker, S., Gouronc, A., Schalk, A., Angélini, C., Pennamen, P., Rooryck, C., Trajkova, S., Gagachovska, B., Shrom-Model, B., Braddock, S. R., Hillman, P., Liu, L., Fenger, C. D., Hammer, T. B., Schanze, I., Zenker, M., Doco-Fenzy, M., Poirsier, C. & Jouret, G., Oct 2026, In: Clinical Genetics. 110, 4, p. 449-459 11 p.

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

    • De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders

      Uguen, K., Bergot, T., Scott-Boyer, M.-P., Chapalain, S., Desdouets, C., Commet, S., Zhu, C., Xu, Y., Wang, Y., Roscioli, T., Tran-Mau-Them, F., Faivre, L., Maraval, J., Delanne, J., Denommé-Pichon, A.-S., Vitobello, A., Jost, C., Planes, M., Hiatt, S. & Wheeler, P. & 47 others, Gonzaga-Jauregui, C., Wang, H., Xin, B., Sency, V., Kruer, M. C., Bakhtiari, S., Sulem, P., Curry, C., Prescott, T., Strobl-Wildemann, G., Brunet, T., Doco Fenzy, M., Courtin, T., Poirsier, C., Bjørg Hammer, T., Fenger, C. D., MacPherson, M., Izumi, K., Leonard, J., Li, D., Zackai, E. H., Glass, I. A., Ward, S., Campeau, P. M., Borroto, M. C. H., Le Moigno, L., Van Esch, H., De Waele, L., Calame, D. G., Lupski, J. R., Barcia, G., Peduto, C., Planté-Bordeneuve, P., Dupuis, L., Mendoza-Londono, R., Stavropoulos, D. J., Gillibert-Duplantier, J., Besnard, T., Do Souto Ferreira, L., Cogné, B., Bézieau, S., Droit, A., Corcos, L., Lippert, E., Férec, C., Küry, S. & Bernard, D. G., 23 Jan 2026, In: Nature communications. 17, 1, 1569.

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

      Open Access

    • Cyclical Vomiting Syndrome in Individuals With BPTF Haploinsufficiency

      Ferretti, A., Furlan, M., Glinton, K. E., Fenger, C. D., Boschann, F., Zeidler, S., Stoltenburg, C., Barakat, T. S., Martinez-Agosto, J. A., Devinsky, O., Furia, F., Rubboli, G., Di Napoli, A., Bellone, G., Furio, S., Piccirillo, M., Mennini, M., Di Nardo, G., Parisi, P. & Møller, R. S. & 3 others, Yang, Y., Stankiewicz, P. & Gardella, E., Sept 2025, In: Pediatric Neurology. 170, p. 58-65 8 p.

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

    • MBOAT7 encephalopathy: Characterizing the neurology and epileptology

      De la Rosa, S. O., Rizzo, V., Jauss, R.-T., Bartolomaeus, T., Escolar, M., Bernard, G., Gavrilova, R., Ahrens-Nicklas, R., Lemire, G., Boycott, K. M., Mercimek-Andrews, S., Prontera, P., Costa, C., Rakic, B., Boerkoel, C. F., Huynh, S., Huh, L., Sherr, E., Argilli, E. & Ortigoza-Escobar, J. D. & 9 others, Casas-Alba, D., Nunes, T., Koolen, D. A., Platzer, K., Khinchi, M. S., Gardella, E., Fenger, C. D., Møller, R. S. & Bayat, A., Jul 2025, In: Epilepsia. 66, 7, p. 2379-2390 12 p.

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

      Open Access
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