Zeynep Tümer

Search results

• 2024

  Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon

  Delgado-Vega, A. M., Cederroth, H., Taylan, F., Ekholm, K., Ek, M., Thonberg, H., Jemt, A., Nilsson, D., Eisfeldt, J., Bilgrav Saether, K., Höijer, I., Akgun-Dogan, O., Asano, Y., Barakat, T. S., Batkovskyte, D., Baynam, G., Bodamer, O., Chetruengchai, W., Corcoran, P., Couse, M. & 84 others, Danis, D., Demidov, G., Dohi, E., Erhardsson, M., Fernandez-Luna, L., Fujiwara, T., Garg, N., Giugliani, R., Gonzaga-Jauregui, C., Grigelioniene, G., Groza, T., Gunnarsson, C., Hammarsjö, A., Hammond, C. K., Hatirnaz Ng, Ö., Hesketh, S., Hettiarachchi, D., Johansson Soller, M., Kirmani, U. A., Kjellberg, M., Kvarnung, M., Kvlividze, O., Lagerstedt-Robinson, K., Lasko, P., Lassmann, T., Lau, L. Y. S., Laurie, S., Lim, W. K., Liu, Z., Lysenkova Wiklander, M., Makay, P., Maiga, A. B., Maya-González, C., Meyn, M. S., Neethiraj, R., Nigro, V., Nordgren, F., Nordlund, J., Orrsjö, S., Ottosson, J., Ozbek, U., Özdemir, Ö., Partin, C., Pearce, D. A., Peck, R., Pedersen, A., Pettersson, M., Pongpanich, M., Posada de la Paz, M., Ramani, A., Romero, J. A., Romero, V. I., Rosenquist, R., Saw, A. M., Spencer, M., Stattin, E. L., Srichomthong, C., Tapia-Paez, I., Taruscio, D., Taylor, J. P., Tkemaladze, T., Tully, I., Tümer, Z., van Zelst-Stams, W. A. G., Verloes, A., Västerviga, E., Wang, S., Yang, R., Yamamoto, S., Yépez, V. A., Zhang, Q., Shotelersuk, V., Wiafe, S. A., Alanay, Y., Botto, L. D., Kirmani, S., Lumaka, A., Palmer, E. E., Puri, R. D., Wirta, V., Lindstrand, A., Buske, O. J., Cederroth, M. & Nordgren, A., 2024, In: Nature Genetics. 56, 11, p. 2287-2294 8 p.

  Research output: Contribution to journal › Comment/debate › Research › peer-review
• 2016

  EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome

  Eggermann, K., Bliek, J., Brioude, F., Algar, E., Buiting, K., Russo, S., Tümer, Z., Monk, D., Moore, G. E., Antoniadi, T., Macdonald, F., Netchine, I., Lombardi, P., Soellner, L., Begemann, M., Prawitt, D., Maher, E. R., Mannens, M., Riccio, A., Weksberg, R. & 4 others, Lapunzina, P., Grønskov, K., Mackay, D. J. & Eggermann, T., 2016, In: European Journal of Human Genetics. 24, p. 1377-87 11 p.

  Research output: Contribution to journal › Comment/debate

  Open Access
  71 Citations (Scopus)
• 2014

  Association of the CHRNA7 promoter variant −86T with Tourette syndrome and comorbid obsessive-compulsive disorder

  Bertelsen, B., Melchior, L., Tümer, Z., Groth, C., Mol Debes, N., Skov, L., Holst, K. K., Fagerlund, B. & Mikkelsen, J. D., 30 Nov 2014, In: Psychiatry Research. 219, 3, p. 710-711 2 p.

  Research output: Contribution to journal › Comment/debate › Research › peer-review
  2 Citations (Scopus)