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Trine Bjørg Hammer

    20192026

    Research activity per year

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    Explore the research areas in which Trine Bjørg Hammer 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

    • Further characterization of the BRSK2-associated neurodevelopmental disorder

      Singhal, P., Hsieh, T.-C., Ehmke, N., Bacchelli, E., Viggiano, M., Maestrini, E., Visconti, P., Posar, A., Scaduto, M. C., Vaisfeld, A., Ronspies, C., Burke, S., Salgado, J. R., Sá, J., Ribeiro, S., Shillington, A., Aggarwal, A., Dailey, C., Saunders, C. & Del Viso, F. & 49 others, Murali, C. N., MacPherson, M., Caluseriu, O., Verloes, A., Levy, J., Capri, Y., Kemmer, H. S., Holtgrewe, M., Boone, P. M., Rodan, L., Vasileiou, G., Pauly, M., Reis, A., Herman, I., Johnson, I., Goel, H., Rodriguez Barreto, A. M., Faletra, F., Mio, C., Essawi, M. L., Hassan, H. A., Sharaf-Eldin, W. E., Kishk, N., Mangano, G. D., Mangano, R., Shields, A. K., Ranells, J. D., Hammer, T. B., Velmans, C., Netzer, C., Rauch, A., Beneteau, C., Legendre, M., Rooryck, C., Haack, T. B., Khan, A., Braun, D., Botto, L. D., Butler, K. M., Ranza, E., Desportes, V., Keren, B., Mignot, C., Ockeloen, C. W., Popp, B., Krawitz, P., Sticht, H., Gregor, A. & Zweier, C., 27 Jul 2026, (Published, E-pub ahead of print) In: European Journal of Human Genetics.

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

    • GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy

      Lemke, J. R., Eoli, A., Krey, I., Popp, B., Strehlow, V., Wittekind, D. A., Vuorinen, A.-L., Aldhalaan, H. M., Baer, S., de Saint Martin, A., Hammer, T. B., Herman, I., Hornemann, F., Ingebrigtsen, T., Lederer, D., Lesca, G., Marafie, D., Mathot, M., Rosenfeld, J. A. & Møller, R. S. & 12 others, Schelhaas, H. J., Stillman, C., Orsini, A., Patel, A. D., Piard, J., Veggiotti, P., Vlaskamp, D. R. M., Weckhuysen, S., Traynelis, S. F., Benke, T. A., Heyne, H. O. & Syrbe, S., Jan 2026, In: Molecular Psychiatry. 31, 1, p. 374-382 9 p.

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

      Open Access
    View all 36 research outputs