A Novel UPF1 Variant Associated With a Rare UPF1-Related Neurodevelopmental Disorder

Tümer, Z., Dalsberg, J., Rønde, G., Sørensen, J. K. & Østergaard, E., 2025, (Accepted/In press) In: Clinical Genetics.

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A deep intronic DLG4 variant resulting in DLG4-related synaptopathy

Levy, A. M., Ganapathi, M., Chung, W. K. & Tümer, Z., 2024, In: Clinical Genetics. 105, 1, p. 77-80 4 p.

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Concomitant Upd(14)mat and Trisomy 14 Mosaicism in a Newborn Detected by Whole Genome Sequencing

Olsen, T., Ek, J., Bak, M., Grønskov, K., Bache, I., Farholt, S. & Tümer, Z., 2024, (Accepted/In press) In: Clinical Genetics.

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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 others, Greiner, 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. M., 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., 2024, In: Epilepsia. 65, 4, p. 1029-1045 17 p.

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DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism

Niceta, M., Ciolfi, A., Ferilli, M., Pedace, L., Cappelletti, C., Nardini, C., Hildonen, M., Chiriatti, L., Miele, E., Dentici, M. L., Gnazzo, M., Cesario, C., Pisaneschi, E., Baban, A., Novelli, A., Maitz, S., Selicorni, A., Squeo, G. M., Merla, G. & Dallapiccola, B. & 4 others, Tumer, Z., Digilio, M. C., Priolo, M. & Tartaglia, M., 2024, In: European Journal of Human Genetics. 32, 7, p. 819-826

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Further delineation of the SCAF4-associated neurodevelopmental disorder

Schmid, C. M., Gregor, A., Ruiz, A., Manso Bazús, C., Herman, I., Ammouri, F., Kotzaeridou, U., McNiven, V., Dupuis, L., Steindl, K., Begemann, A., Rauch, A., Suter, A. A., Isidor, B., Mercier, S., Nizon, M., Cogné, B., Deb, W., Besnard, T. & Haack, T. B. & 61 others, Falb, R. J., Müller, A. J., Linden, T., Haldeman-Englert, C. R., Ockeloen, C. W., Mattioli, F., Reymond, A., Ibrahim, N., Naz, S., Lacaze, E., Bassetti, J. A., Hoefele, J., Brunet, T., Riedhammer, K. M., Elloumi, H. Z., Person, R., Zou, F., Kahle, J. J., Cremer, K., Schmidt, A., Delrue, M. A., Almeida, P. M., Ramos, F., Srivastava, S., Quinlan, A., Robertson, S., Manka, E., Kuechler, A., Spranger, S., Nowaczyk, M. J. M., Elshafie, R. M., Alsharhan, H., Hillman, P. R., Dunnington, L. A., Braakman, H. M. H., McKee, S., Moresco, A., Ignat, A. D., Newbury-Ecob, R., Banneau, G., Patat, O., Kuerbitz, J., Rzucidlo, S., Sell, S. S., Gordon, P., Schuhmann, S., Reis, A., Halleb, Y., Stoeva, R., Keren, B., Al Masseri, Z., Tümer, Z., Hammer-Hansen, S., Krüger Sølyst, S., Steigerwald, C. G., Abreu, N. J., Faust, H., Müller-Nedebock, A., Tran Mau-Them, F., Sticht, H. & Zweier, C., 2024, (Accepted/In press) In: European Journal of Human Genetics. 103.

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Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes

Rinaldi, B., Bayat, A., Zachariassen, L. G., Sun, J.-H., Ge, Y.-H., Zhao, D., Bonde, K., Madsen, L. H., Awad, I. A. A., Bagiran, D., Sbeih, A., Shah, S. M., El-Sayed, S., Lyngby, S. M., Pedersen, M. G., Stenum-Berg, C., Walker, L. C., Krey, I., Delahaye-Duriez, A. & Emrick, L. T. & 67 others, Sully, K., Murali, C. N., Burrage, L. C., Plaud Gonzalez, J. A., Parnes, M., Friedman, J., Isidor, B., Lefranc, J., Redon, S., Heron, D., Mignot, C., Keren, B., Fradin, M., Dubourg, C., Mercier, S., Besnard, T., Cogne, B., Deb, W., Rivier, C., Milani, D., Bedeschi, M. F., Di Napoli, C., Grilli, F., Marchisio, P., Koudijs, S., Veenma, D., Argilli, E., Lynch, S. A., Au, P. Y. B., Ayala Valenzuela, F. E., Brown, C., Masser-Frye, D., Jones, M., Patron Romero, L., Li, W. L., Thorpe, E., Hecher, L., Johannsen, J., Denecke, J., McNiven, V., Szuto, A., Wakeling, E., Cruz, V., Sency, V., Wang, H., Piard, J., Kortüm, F., Herget, T., Bierhals, T., Condell, A., Zeev, B. B., Kaur, S., Christodoulou, J., Piton, A., Zweier, C., Kraus, C., Micalizzi, A., Trivisano, M., Specchio, N., Lesca, G., Møller, R. S., Tümer, Z., Musgaard, M., Gerard, B., Lemke, J. R., Shi, Y. S. & Kristensen, A. S., 2024, In: Brain. 147, 5, p. 1837-1855

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Genome-wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome

Tsetsos, F., Topaloudi, A., Jain, P., Yang, Z., Yu, D., Kolovos, P., Tumer, Z., Rizzo, R., Hartmann, A., Depienne, C., Worbe, Y., Müller-Vahl, K. R., Cath, D. C., Boomsma, D. I., Wolanczyk, T., Zekanowski, C., Barta, C., Nemoda, Z., Tarnok, Z. & Padmanabhuni, S. S. & 28 others, Buxbaum, J. D., Grice, D., Glennon, J., Stefansson, H., Hengerer, B., Yannaki, E., Stamatoyannopoulos, J. A., Benaroya-Milshtein, N., Cardona, F., Hedderly, T., Heyman, I., Huyser, C., Mir, P., Morer, A., Mueller, N., Munchau, A., Plessen, K. J., Porcelli, C., Roessner, V., Walitza, S., Schrag, A., Martino, D., The PGC TS Working Group, The TSAICG, The TSGeneSEE Initiative, The EMTICS Collaborative Group, The TS-EUROTRAIN Network & The TIC Genetics Collaborative Group, 2024, In: Biological Psychiatry. 96, 2, p. 114-124

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