Zeynep Tümer

Zeynep Tümer

Clinical Professor

Member of:

  • Clinical Genetics


Publication year:
All
1 - 10 out of 10Page size: 10
  1. 2023
  2. 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

  3. Published

    Can polygenic risk scores help explain disease prevalence differences around the world? A worldwide investigation

    Jain, P. R., Burch, M., Martinez, M., Mir, P., Fichna, J. P., Zekanowski, C., Rizzo, R., Tümer, Asuman Zeynep, Barta, C., Yannaki, E., Stamatoyannopoulos, J., Drineas, P. & Paschou, P., 2023, In: BMC Genomic Data. 24, 1, 12 p., 70.

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

  4. Published

    DNA methylation signature classification of rare disorders using publicly available methylation data

    Hildonen, M., Ferilli, M., Hjortshøj, T. D., Dunø, M., Risom, L., Bak, M., Ek, J., Møller, R. S., Ciolfi, A., Tartaglia, M. & Tümer, Asuman Zeynep, 2023, In: Clinical Genetics. 103, 6, p. 688-692 5 p.

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

  5. 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

  6. 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

  7. 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

  8. 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

  9. 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

  10. 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

  11. Published

    Solving the unsolved genetic epilepsies: Current and future perspectives

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

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

ID: 7071