Zeynep Tümer

Zeynep Tümer

Clinical Professor

Member of:

  • Clinical Genetics


Publication year:
All
1 - 10 out of 200Page size: 10
  1. 2024
  2. Published

    A deep intronic DLG4 variant resulting in DLG4-related synaptopathy

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

    Research output: Contribution to journal › Journal article › Research › peer-review

  3. Published

    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, Tümer, Asuman Zeynep, Digilio, M. C., Priolo, M. & Tartaglia, M., 2024, In: European Journal of Human Genetics. 32, 7, p. 819-826

    Research output: Contribution to journal › Journal article › Research › peer-review

  4. Published

    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, Asuman Zeynep & Rubboli, Guido, 2024, In: Epilepsia. 65, 4, p. 1029-1045 17 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  5. Published

    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, Asuman Zeynep, Musgaard, M., Gerard, B., Lemke, J. R., Shi, Y. S. & Kristensen, Anders Skov, 2024, In: Brain. 147, 5, p. 1837-1855

    Research output: Contribution to journal › Journal article › Research › peer-review

  6. Published

    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, T. P. T. W. G., The TSAICG, T. T., The TSGeneSEE Initiative, T. T. I., The EMTICS Collaborative Group, T. E. C. G., The TS-EUROTRAIN Network, T. T. N. & The TIC Genetics Collaborative Group, T. T. G. C. G., 2024, In: Biological Psychiatry. 96, 2, p. 114-124

    Research output: Contribution to journal › Journal article › Research › peer-review

  7. Accepted/In press

    Microphthalmia and congenital cataract in two patients with Stickler syndrome type II: a case report

    Boysen, K. B., Tümer, Asuman Zeynep, Bach-Holm, Daniella, Bisgaard, A. M. & Kessel, Line, 2024, (Accepted/In press) In: Ophthalmic Genetics. 6 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  8. Published

    Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

    Li, D., Wang, Q., Bayat, A., Battig, M. R., Zhou, Y., Bosch, D. G. M., van Haaften, G., Granger, L., Petersen, A. K., Pérez-Jurado, L. A., Aznar-Laín, G., Aneja, A., Hancarova, M., Bendova, S., Schwarz, M., Pourova, R. K., Sedlacek, Z., Keena, B. A., March, M. E., Hou, C. & 133 others, O’Connor, N., Bhoj, E. J., Harr, M. H., Lemire, G., Boycott, K. M., Towne, M., Li, M., Tarnopolsky, M., Brady, L., Parker, M. J., Faghfoury, H., Parsley, L. K., Agolini, E., Dentici, M. L., Novelli, A., Wright, M., Palmquist, R., Lai, K., Scala, M., Striano, P., Iacomino, M., Zara, F., Cooper, A., Maarup, T. J., Byler, M., Lebel, R. R., Balci, T. B., Louie, R., Lyons, M., Douglas, J., Nowak, C., Afenjar, A., Hoyer, J., Keren, B., Maas, S. M., Motazacker, M. M., Martinez-Agosto, J. A., Rabani, A. M., McCormick, E. M., Falk, M. J., Ruggiero, S. M., Helbig, I., Møller, R. S., Tessarollo, L., Ardori, F. T., Palko, M. E., Hsieh, T. C., Krawitz, P. M., Ganapathi, M., Gelb, B. D., Jobanputra, V., Wilson, A., Greally, J., Jacquemont, S., Jizi, K., Bruel, A. L., Quelin, C., Misra, V. K., Chick, E., Romano, C., Greco, D., Arena, A., Morleo, M., Nigro, V., Seyama, R., Uchiyama, Y., Matsumoto, N., Taira, R., Tashiro, K., Sakai, Y., Yigit, G., Wollnik, B., Wagner, M., Kutsche, B., Hurst, A. C. E., Thompson, M. L., Schmidt, R., Randolph, L., Spillmann, R. C., Shashi, V., Higginbotham, E. J., Cordeiro, D., Carnevale, A., Costain, G., Khan, T., Funalot, B., Mau-Them, F. T., Garcia Moya, L. F., García-Miñaúr, S., Osmond, M., Chad, L., Quercia, N., Carrasco, D., Li, C., Sanchez-Valle, A., Kelley, M., Nizon, M., Jensson, B. O., Sulem, P., Stefansson, K., Gorokhova, S., Busa, T., Rio, M., Habdallah, H. H., Lesieur-Sebellin, M., Amiel, J., Pingault, V., Mercier, S., Vincent, M., Philippe, C., Fatus-Fauconnier, C., Friend, K., Halligan, R. K., Biswas, S., Rosser, J., Shoubridge, C., Corbett, M., Barnett, C., Gecz, J., Leppig, K., Slavotinek, A., Marcelis, C., Pfundt, R., de Vries, B. B. A., van Slegtenhorst, M. A., Brooks, A. S., Cogne, B., Rambaud, T., Tümer, Asuman Zeynep, Zackai, E. H., Akizu, N., Song, Y. & Hakonarson, H., 2024, In: Journal of Clinical Investigation. 134, 1, 17 p., e171235.

    Research output: Contribution to journal › Journal article › Research › peer-review

  9. Accepted/In press

    The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants

    Furia, F., Levy, A. M., Theunis, M., Bamshad, M. J., Bartos, M. N., Bijlsma, E. K., Brancati, F., Cejudo, L., Chong, J. X., De Luca, C., Dean, S. J., Egense, A., Goel, H., Guenzel, A. J., Hüffmeier, U., Legius, E., Mancini, G. M. S., Marcos-Alcalde, I., Niclass, T., Planes, M. & 16 others, Redon, S., Ros-Pardo, D., Rouault, K., Schot, R., Schuhmann, S., Shen, J. J., Tao, A. M., Thiffault, I., Van Esch, H., Wentzensen, I. M., Barakat, T. S., Møller, R. S., Gomez-Puertas, P., Chung, W. K., Gardella, E. & Tümer, Asuman Zeynep, 2024, (Accepted/In press) In: Clinical Genetics. 11 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  10. Accepted/In press

    Unraveling GRIA1 neurodevelopmental disorders: Lessons learned from the p.(Ala636Thr) variant

    Tvergaard, N. K., Tkemaladze, T., Stödberg, T., Kvarnung, M., Tatton-Brown, K., Baralle, D., Tümer, Asuman Zeynep & Bayat, Allan, 2024, (Accepted/In press) In: Clinical Genetics.

    Research output: Contribution to journal › Journal article › Research › peer-review

  11. 2023
  12. Published

    CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology

    Oppermann, H., Marcos-Grañeda, E., Weiss, L. A., Gurnett, C. A., Jelsig, A. M., Vineke, S. H., Isidor, B., Mercier, S., Magnussen, K., Zacher, P., Hashim, M., Pagnamenta, A. T., Race, S., Srivastava, S., Frazier, Z., Maiwald, R., Pergande, M., Milani, D., Rinelli, M., Levy, J. & 35 others, Krey, I., Fontana, P., Lonardo, F., Riley, S., Kretzer, J., Rankin, J., Reis, L. M., Semina, E. V., Reuter, M. S., Scherer, S. W., Iascone, M., Weis, D., Fagerberg, C. R., Brasch-Andersen, C., Hansen, L. K., Kuechler, A., Noble, N., Gardham, A., Tenney, J., Rathore, G., Beck-Woedl, S., Haack, T. B., Pavlidou, D. C., Atallah, I., Vodopiutz, J., Janecke, A. R., Hsieh, T., Lesmann, H., Klinkhammer, H., Krawitz, P. M., Lemke, J. R., Jamra, R. A., Nieto, M., Tümer, Asuman Zeynep & Platzer, K., 2023, In: European journal of human genetics : EJHG. 31, 11, p. 1251-1260 10 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

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ID: 7071