Zeynep Tümer

Zeynep Tümer

Clinical Professor

Member of:

  • Clinical Genetics


Publication year:
All
41 - 50 out of 198Page size: 10
  1. 2020
  2. 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

  3. 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

  4. 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

  5. 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

  6. 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

  7. 2019
  8. Published

    Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy

    Jespersgaard, C., Fang, M., Bertelsen, M., Dang, X., Jensen, H., Chen, Y., Bech, N., Dai, L., Rosenberg, T., Zhang, J., Møller, L. B., Tümer, Asuman Zeynep, Brøndum-Nielsen, K. & Grønskov, K., 4 Feb 2019, In: Scientific Reports. 9, 1, 7 p., 1219.

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

  9. Published

    Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

    DDD Study, D. S., Feb 2019, In: European Journal of Human Genetics. 27, 2, p. 278-290 13 p.

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

  10. Published

    Autism and developmental disability caused by KCNQ3 gain-of-function variants

    Sands, T. T., Miceli, F., Lesca, G., Beck, A. E., Sadleir, L. G., Arrington, D. K., Schönewolf-Greulich, B., Moutton, S., Lauritano, A., Nappi, P., Soldovieri, M. V., Scheffer, I. E., Mefford, H. C., Stong, N., Heinzen, E. L., Goldstein, D. B., Perez, A. G., Kossoff, E. H., Stocco, A., Sullivan, J. A. & 15 others, Shashi, V., Gerard, B., Francannet, C., Bisgaard, A., Tümer, Asuman Zeynep, Willems, M., Rivier, F., Vitobello, A., Thakkar, K., Rajan, D. S., Barkovich, A. J., Weckhuysen, S., Cooper, E. C., Taglialatela, M. & Cilio, M. R., 2019, In: Annals of Neurology. 86, 2, p. 181-192 12 p.

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

  11. Published

    Clinician's guide to genes associated with Rett-like phenotypes - Investigation of a Danish cohort and review of the literature

    Schönewolf-Greulich, B., Bisgaard, A., Møller, R. S., Dunø, M., Brøndum-Nielsen, K., Kaur, S., Van Bergen, N. J., Lunke, S., Eggers, S., Jespersgaard, C., Christodoulou, J. & Tümer, Asuman Zeynep, 2019, In: Clinical Genetics. 95, 2, p. 221-230

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

  12. Published

    Complex Compound Inheritance of Lethal Lung Developmental Disorders due to Disruption of the TBX-FGF Pathway

    Karolak, J. A., Vincent, M., Deutsch, G., Gambin, T., Cogné, B., Pichon, O., Vetrini, F., Mefford, H. C., Dines, J. N., Golden-Grant, K., Dipple, K., Freed, A. S., Leppig, K. A., Dishop, M., Mowat, D., Bennetts, B., Gifford, A. J., Weber, M. A., Lee, A. F., Boerkoel, C. F. & 52 others, Bartell, T. M., Ward-Melver, C., Besnard, T., Petit, F., Bache, Iben, Tümer, Asuman Zeynep, Denis-Musquer, M., Joubert, M., Martinovic, J., Bénéteau, C., Molin, A., Carles, D., André, G., Bieth, E., Chassaing, N., Devisme, L., Chalabreysse, L., Pasquier, L., Secq, V., Don, M., Orsaria, M., Missirian, C., Mortreux, J., Sanlaville, D., Pons, L., Küry, S., Bézieau, S., Liet, J., Joram, N., Bihouée, T., Scott, D. A., Brown, C. W., Scaglia, F., Tsai, A. C., Grange, D. K., Phillips, J. A., Pfotenhauer, J. P., Jhangiani, S. N., Gonzaga-Jauregui, C. G., Chung, W. K., Schauer, G. M., Lipson, M. H., Mercer, C. L., van Haeringen, A., Liu, Q., Popek, E., Coban Akdemir, Z. H., Lupski, J. R., Szafranski, P., Isidor, B., Le Caignec, C. & Stankiewicz, P., 2019, In: American Journal of Human Genetics. 104, 2, p. 213-228 16 p.

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

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ID: 7071