Zeynep Tümer

Zeynep Tümer

Clinical Professor

Member of:

  • Clinical Genetics


Publication year:
All
11 - 20 out of 198Page size: 10
  1. 2023
  2. Published

    Generation of eight hiPSCs lines from two pathogenic variants in CACNA1A using the CRISPR-Cas9 gene editing technology

    Rivera-Sánchez, P., Søndergaard, L., Wathikthinnakon, Methi, B. D. Magnusson, H., Frederiksen, Henriette Reventlow S, Aabæk Hammer, F., Taleb, R., Christian Cassidy, C., Tranholm Bruun, M., Tümer, Asuman Zeynep, Holst, B., Brasch-Andersen, C., Møller, R., Freude, Kristine & Chandrasekaran, Abinaya, 2023, In: Stem Cell Research. 71, 103193.

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

  3. Published

    Germline (epi)genetics reveals high predisposition in females: a 5-year, nationwide, prospective Wilms tumour cohort

    Stoltze, U. K., Hildonen, M., Hansen, Thomas van Overeem, Foss-Skiftesvik, J., Byrjalsen, A., Lundsgaard, M., Pignata, L., Grønskov, K., Tümer, Asuman Zeynep, Schmiegelow, Kjeld, Brok, J. S. & Wadt, Karin Anna Wallentin, 2023, In: Journal of Medical Genetics. 60, 9, p. 842-849

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

  4. Published

    Imprinting disorders

    Eggermann, T., Monk, D., de Nanclares, G. P., Kagami, M., Giabicani, E., Riccio, A., Tümer, Asuman Zeynep, Kalish, J. M., Tauber, M., Duis, J., Weksberg, R., Maher, E. R., Begemann, M. & Elbracht, M., 2023, In: Nature Reviews Disease Primers. 9, 19 p., 33.

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

  5. Published

    Involvement of Mitochondrial Dysfunction in FOXG1 Syndrome

    Bjerregaard, Victoria Alexandra, Levy, A. M., Batz, M. S., Salehi, R., Hildonen, M., Hammer, T. B., Møller, R. S., Desler, Claus & Tümer, Asuman Zeynep, 2023, In: Genes. 14, 2, 246.

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

  6. Published

    Maternal versus paternal inheritance of a 132 bp 11p15.5 microdeletion affecting KCNQ1OT1 and associated phenotypes

    Stoltze, U. K., Hansen, Thomas van Overeem, Brok, J. S., Gronskov, K., Tümer, Asuman Zeynep, Ahlborn, L. B., Schmiegelow, Kjeld & Wadt, Karin Anna Wallentin, 2023, In: Journal of Medical Genetics. 60, 2, p. 128-130 3 p., 108335.

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

  7. Published

    Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome

    Jain, P., Miller-Fleming, T., Topaloudi, A., Yu, D., Drineas, P., Georgitsi, M., Yang, Z., Rizzo, R., Müller-Vahl, K. R., Tumer, Z., Mol Debes, N., Hartmann, A., Depienne, C., Worbe, Y., Mir, P., Cath, D. C., Boomsma, D. I., Roessner, V., Wolanczyk, T., Janik, P. & 32 others, Szejko, N., Zekanowski, C., Barta, C., Nemoda, Z., Tarnok, Z., Buxbaum, J. D., Grice, D., Glennon, J., Stefansson, H., Hengerer, B., Benaroya-Milshtein, N., Cardona, F., Hedderly, T., Heyman, I., Huyser, C., Morer, A., Mueller, N., Munchau, A., Plessen, K. J., Porcelli, C., Walitza, S., Schrag, A., Martino, D., Dietrich, A., Mathews, C. A., Scharf, J. M., Hoekstra, P. J., Davis, L. K., Paschou, P., Psychiatric Genomics Consortium Tourette Syndrome Working Group (PGC-TS), P. G. C. T. S. W. G. (., EMTICS Collaborative Group, E. C. G. & TS-EUROTRAIN Network, T. N., 2023, In: Translational Psychiatry. 13, 10 p., 69.

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

  8. Published

    Solving the unsolved genetic epilepsies: Current and future perspectives

    Johannesen, K. M., Tümer, Asuman Zeynep, Weckhuysen, S., Barakat, T. S. & Bayat, Allan, 2023, In: Epilepsia. 64, 12, p. 3143-3154 12 p.

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

  9. 2022
  10. Published

    Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences

    Eggermann, T., Yapici, E., Bliek, J., Pereda, A., Begemann, M., Russo, S., Tannorella, P., Calzari, L., de Nanclares, G. P., Lombardi, P., Temple, I. K., Mackay, D., Riccio, A., Kagami, M., Ogata, T., Lapunzina, P., Monk, D., Maher, E. R. & Tümer, Asuman Zeynep, 2022, In: Clinical Epigenetics. 14, 1, 17 p., 41.

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

  11. Published

    Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder

    Christensen, M. B., Levy, A. M., Mohammadi, N. A., Niceta, M., Kaiyrzhanov, R., Dentici, M. L., Al Alam, C., Alesi, V., Benoit, V., Bhatia, K. P., Bierhals, T., Boßelmann, C. M., Buratti, J., Callewaert, B., Ceulemans, B., Charles, P., De Wachter, M., Dehghani, M., D'haenens, E., Doco-Fenzy, M. & 37 others, Geßner, M., Gobert, C., Guliyeva, U., Haack, T. B., Hammer, T. B., Heinrich, T., Hempel, M., Herget, T., Hoffmann, U., Horvath, J., Houlden, H., Keren, B., Kresge, C., Kumps, C., Lederer, D., Lermine, A., Magrinelli, F., Maroofian, R., Vahidi Mehrjardi, M. Y., Moudi, M., Müller, A. J., Oostra, A. J., Pletcher, B. A., Ros-Pardo, D., Samarasekera, S., Tartaglia, M., Van Schil, K., Vogt, J., Wassmer, E., Winkelmann, J., Zaki, M. S., Zech, M., Lerche, H., Radio, F. C., Gomez-Puertas, P., Møller, R. S. & Tümer, Asuman Zeynep, 2022, In: Clinical Genetics. 102, 2, p. 98-109 12 p.

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

  12. Published

    Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation

    McTiernan, N., Tranebjærg, Lisbeth, Bjørheim, A. S., Hogue, J. S., Wilson, W. G., Schmidt, B., Boerrigter, M. M., Nybo, Maja Lind, Smeland, M. F., Tümer, Asuman Zeynep & Arnesen, T., 2022, In: Human Genetics. 141, p. 1355–1369

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

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ID: 7071