Zeynep Tümer

Zeynep Tümer

Clinical Professor

Member of:

  • Clinical Genetics


Publication year:
All
1 - 10 out of 10Page size: 10
  1. 2020
  2. Published

    upd(20)mat is a rare cause of the Silver-Russell-syndrome-like phenotype: Two unrelated cases and screening of large cohorts

    Hjortshøj, T. D., Sørensen, A. R., Yusibova, M., Hansen, Bo Mølholm, Dunø, M., Balslev-Harder, M., Grønskov, K., van Hagen, J. M., Polstra, A. M., Eggermann, T., Finken, M. J. J. & Tümer, Asuman Zeynep, Jun 2020, In: Clinical Genetics. 97, 6, p. 902-907

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

  3. Published

    Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

    Krab, L. C., Marcos-Alcalde, I., Assaf, M., Balasubramanian, M., Andersen, J. B., Bisgaard, A. M., Fitzpatrick, D. R., Gudmundsson, S., Huisman, S. A., Kalayci, T., Maas, S. M., Martinez, F., McKee, S., Menke, L. A., Mulder, P. A., Murch, O. D., Parker, M., Pie, J., Ramos, F. J., Rieubland, C. & 6 others, Rosenfeld Mokry, J. A., Scarano, E., Shinawi, M., Gómez-Puertas, P., Tümer, Asuman Zeynep & Hennekam, R. C., May 2020, In: Human Genetics. 139, p. 575-592

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

  4. Published

    A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium

    Jespersgaard, C., Hey, A. B., Ilginis, T., Hjortshøj, T. D., Fang, M., Bertelsen, M., Bech, N., Jensen, H., Larsen, L. J., Tümer, Asuman Zeynep, Rosenberg, T., Brøndum-Nielsen, K., Møller, L. B. & Grønskov, K., Feb 2020, In: Investigative Ophthalmology & Visual Science. 61, 2, 10 p., 2761939.

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

  5. Published

    Bi-Allelic Pathogenic Variations in MERTK Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa

    Jespersgaard, C., Bertelsen, M., Arif, F., Gellert-Kristensen, H. G., Fang, M., Jensen, H., Rosenberg, T., Tümer, Asuman Zeynep, Møller, L. B., Brøndum-Nielsen, K. & Grønskov, K., 2020, In: Genes. 11, 12, 10 p., 1517.

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

  6. Published

    Chromothripsis and DNA Repair Disorders

    Nazaryan-Petersen, L., Bjerregaard, Victoria Alexandra, Nielsen, Finn Cilius, Tommerup, Niels & Tümer, Asuman Zeynep, 2020, In: Journal of Clinical Medicine. 9, 3, 9 p., 613.

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

  7. Published

    Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A)

    Kaur, S., Van Bergen, N. J., Verhey, K. J., Nowell, C. J., Budaitis, B., Yue, Y., Ellaway, C., Brunetti-Pierri, N., Cappuccio, G., Bruno, I., Boyle, L., Nigro, V., Torella, A., Roscioli, T., Cowley, M. J., Massey, S., Sonawane, R., Burton, M. D., Schonewolf-Greulich, B., Tümer, Z. & 3 others, Chung, W. K., Gold, W. A. & Christodoulou, J., 2020, In: Human Mutation. 41, 10, p. 1761-1774

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

  8. Published

    Human induced pluripotent cells in personalized treatment of monogenic epilepsies

    Mohammad, N. A., Freude, Kristine, Haukedal, H., Tümer, Asuman Zeynep & Møller, R. S., 2020, In: Journal of Translational Genetics and Genomics. 2020, 4, p. 238-250

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

  9. Published

    Mitochondrial Function in Gilles de la Tourette Syndrome Patients With and Without Intragenic IMMP2L Deletions

    Bjerregaard, Victoria Alexandra, Schönewolf-Greulich, B., Rasmussen, Lene Juel, Desler, Claus & Tümer, Asuman Zeynep, 2020, In: Frontiers in Neurology. 11, 9 p., 163.

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

  10. Published

    Rare pathogenic copy number variation in the 16p11.2 (bp4–bp5) region associated with neurodevelopmental and neuropsychiatric disorders: A review of the literature

    Oliva-Teles, N., de Stefano, M. C., Gallagher, L., Rakic, S., Jorge, P., Cuturilo, G., Markovska-Simoska, S., Borg, I., Wolstencroft, J., Tümer, Asuman Zeynep, Harwood, A. J., Kodra, Y. & Skuse, D., 2020, In: International Journal of Environmental Research and Public Health. 17, 24, p. 1-16 16 p., 9253.

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

  11. Published

    Stable longitudinal methylation levels at the CpG sites flanking the CTG repeat of DMPK in patients with myotonic dystrophy type 1

    Hildonen, M., Knak, K. L., Dunø, M., Vissing, John & Tümer, Asuman Zeynep, 2020, In: Genes. 11, 8, p. 1-13 13 p., 936.

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

ID: 7071