Zeynep Tümer

Zeynep Tümer

Clinical Professor

Member of:

  • Clinical Genetics


Publication year:
All
1 - 10 out of 10Page size: 10
  1. 2018
  2. Published

    Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains

    Monk, D., Morales, J., den Dunnen, J. T., Russo, S., Court, F., Prawitt, D., Eggermann, T., Beygo, J., Buiting, K. & Tümer, Asuman Zeynep, Jan 2018, In: Epigenetics.

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

  3. Published

    Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement

    Brioude, F., Kalish, J. M., Mussa, A., Foster, A. C., Bliek, J., Ferrero, G. B., Boonen, S. E., Cole, T., Baker, R., Bertoletti, M., Cocchi, G., Coze, C., De Pellegrin, M., Hussain, K., Ibrahim, A., Kilby, M. D., Krajewska-Walasek, M., Kratz, C. P., Ladusans, E. J., Lapunzina, P. & 21 others, Le Bouc, Y., Maas, S. M., Macdonald, F., Õunap, K., Peruzzi, L., Rossignol, S., Russo, S., Shipster, C., Skórka, A., Tatton-Brown, K., Tenorio, J., Tortora, C., Grønskov, K., Netchine, I., Hennekam, R. C., Prawitt, D., Tümer, Asuman Zeynep, Eggermann, T., Mackay, D. J. G., Riccio, A. & Maher, E. R., 2018, In: Nature Reviews Endocrinology. 14, p. 229-249

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

  4. Published

    Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications

    Wolfe, K., McQuillin, A., Alesi, V., Boudry Labis, E., Cutajar, P., Dallapiccola, B., Dentici, M. L., Dieux-Coeslier, A., Duban-Bedu, B., Duelund Hjortshøj, T., Goel, H., Loddo, S., Morrogh, D., Mosca-Boidron, A-L., Novelli, A., Olivier-Faivre, L., Parker, J., Parker, M. J., Patch, C., Pelling, A. L. & 8 others, Smol, T., Tümer, Asuman Zeynep, Vanakker, O., van Haeringen, A., Vanlerberghe, C., Strydom, A., Skuse, D. & Bass, N., 2018, In: American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics. 177, 4, p. 397-405 9 p.

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

  5. Published

    Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

    Kline, A. D., Moss, J. F., Selicorni, A., Bisgaard, A-M., Deardorff, M. A., Gillett, P. M., Ishman, S. L., Kerr, L. M., Levin, A. V., Mulder, P. A., Ramos, F. J., Wierzba, J., Ajmone, P. F., Axtell, D., Blagowidow, N., Cereda, A., Costantino, A., Cormier-Daire, V., FitzPatrick, D., Grados, M. & 23 others, Groves, L., Guthrie, W., Huisman, S., Kaiser, F. J., Koekkoek, G., Levis, M., Mariani, M., McCleery, J. P., Menke, L. A., Metrena, A., O'Connor, J., Oliver, C., Pie, J., Piening, S., Potter, C. J., Quaglio, A. L., Redeker, E., Richman, D., Rigamonti, C., Shi, A., Tümer, Asuman Zeynep, Van Balkom, I. D. C. & Hennekam, R. C., 2018, In: Nature Reviews. Genetics. 19, p. 649-666

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

  6. Published

    Generation of induced pluripotent stem cells, KCi001-A derived from a Bardet-Biedl syndrome patient compound heterozygous for the BBS1 variants c.1169T>G/c.1135G>C

    Hey, C. A. B., Saltõkowa, K. B., Larsen, L. J., Tümer, Asuman Zeynep, Brøndum-Nielsen, K., Grønskov, K., Hjortshøj, T. D. & Møller, L. B., 2018, In: Stem Cell Research. 31, p. 235-239

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

  7. Published

    Generation of induced pluripotent stem cells, KCi002-A derived from a patient with Bardet-Biedl syndrome homozygous for the BBS10 variant c.271insT

    Hey, C. A. B., Saltõkowa, K. B., Larsen, L. J., Tümer, Asuman Zeynep, Brøndum-Nielsen, K., Grønskov, K., Hjortshøj, T. D. & Møller, L. B., 2018, In: Stem Cell Research. 33, p. 46-50

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

  8. Published

    Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization

    Nazaryan-Petersen, L., Eisfeldt, J., Pettersson, M., Lundin, J., Nilsson, D., Wincent, J., Lieden, A., Lovmar, L., Ottosson, J., Gacic, J., Mäkitie, O., Nordgren, A., Vezzi, F., Wirta, V., Käller, M., Hjortshøj, T. D., Jespersgaard, C., Houssari, R., Pignata, L., Bak, M. & 4 others, Tommerup, Niels, Lundberg, E. S., Tümer, Asuman Zeynep & Lindstrand, A., 2018, In: PLOS Genetics. 14, 11, 25 p., e1007780.

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

  9. Published

    Structural and sequence variants in patients with Silver-Russell syndrome or similar features—Curation of a disease database

    Tümer, Asuman Zeynep, López-Hernández, J. A., Netchine, I., Elbracht, M., Grønskov, K., Gede, L. B., Sachwitz, J., den Dunnen, J. T. & Eggermann, T., 2018, In: Human Mutation. 39, 3, p. 345-364 20 p.

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

  10. Published

    Tab af X-kromosomet kan være et aldersbetinget fænomen hos kvinder

    Jelsig, A. M., Brøndum-Nielsen, K. & Tümer, Asuman Zeynep, 2018, In: Ugeskrift for Laeger. 180, 23, 4 p., V10170731.

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

  11. Published

    Uniparental Disomy and Imprinting Disorders

    Eggermann, T., J.g. Mackay, D. & Tümer, Asuman Zeynep, 2018, In: OBM Genetics. 2, 3, 19 p., 031.

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

ID: 7071