Zeynep Tümer
Clinical Professor
- 2021
- Published
ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder
Oates, S., Absoud, M., Goyal, S., Bayley, S., Baulcomb, J., Sims, A., Riddett, A., Allis, K., Brasch-Andersen, C., Balasubramanian, M., Bai, R., Callewaert, B., Hüffmeier, U., Le Duc, D., Radtke, M., Korff, C., Kennedy, J., Low, K., Møller, R. S., Nielsen, J. E. K. & 15 others, , 2021, In: Clinical Genetics. 100, 4, p. 412-429Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Candidate genes and pathways associated with gilles de la tourette syndrome—where are we?
Levy, A. M., Paschou, P. & Tümer, Asuman Zeynep, 2021, In: Genes. 12, 9, 1321.Research output: Contribution to journal › Review › Research › peer-review
- Published
Classification of msh6 variants of uncertain significance using functional assays
Frederiksen, J. H., Jensen, S. B., Tümer, Asuman Zeynep & Hansen, T. V. O., 2021, In: International Journal of Molecular Sciences. 22, 16, 20 p., 8627.Research output: Contribution to journal › Review › Research › peer-review
- Published
Clinical and molecular delineation of PUS3-associated neurodevelopmental disorders
Nøstvik, M., Kateta, S. M., Schönewolf-Greulich, B., Afenjar, A., Barth, M., Boschann, F., Doummar, D., Haack, T. B., Keren, B., Livshits, L. A., Mei, D., Park, J., Pisano, T., Prouteau, C., Umair, M., Waqas, A., Ziegler, A., Guerrini, R., Møller, R. S. & Tümer, Asuman Zeynep, 2021, In: Clinical Genetics. 100, 5, p. 628-633Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Deciphering the premature mortality in PIGA-CDG – An untold story
Bayat, A., Kløvgaard, M., Johannesen, K. M., Stefan Barakat, T., Kievit, A., Montomoli, M., Parrini, E., Pietrafusa, N., Schelhaas, J., van Slegtenhorst, M., Miya, K., Guerrini, R., Tranebjærg, Lisbeth, Tümer, Asuman Zeynep, Rubboli, Guido & Møller, R. S., 2021, In: Epilepsy Research. 170, 106530.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Elevated expression of SLC6A4 encoding the serotonin transporter (SERT) in gilles de la tourette syndrome
Hildonen, M., Levy, A. M., Dahl, C., Bjerregaard, V. A., Møller, L. B., Guldberg, P., Debes, Nanette M Monique Mol & Tümer, Asuman Zeynep, 2021, In: Genes. 12, 1, p. 1-10 10 p., 86.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Ewas of monozygotic twins implicate a role of mtor pathway in pathogenesis of tic spectrum disorder
Hildonen, M., Levy, A. M., Hansen, C. S., Bybjerg-Grauholm, J., Skytthe, A., Debes, Nanette M Monique Mol, Tan, Q. & Tümer, Asuman Zeynep, 2021, In: Genes. 12, 10, 1510.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Oliver McFarlane syndrome: two new cases and a review of the literature
Lisbjerg, K., Andersen, M. K. G., Bertelsen, M., Brost, A. G., Buchvald, F. F., Jensen, R. B., Bisgaard, A. M., Rosenberg, T., Tümer, Asuman Zeynep & Kessel, Line, 2021, In: Ophthalmic Genetics. 42, 4, p. 464-473Research output: Contribution to journal › Journal article › Research › peer-review
- 2020
- 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. 902-907Research output: Contribution to journal › Journal article › Research › peer-review
- 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, , May 2020, In: Human Genetics. 139, p. 575-592Research output: Contribution to journal › Journal article › Research › peer-review
ID: 7071
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Dysfunction of the heteromeric KV7.3/KV7.5 potassium channel is associated with autism spectrum disorders
Research output: Contribution to journal › Journal article › Research › peer-review
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1894
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A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.
Research output: Contribution to journal › Journal article › Research › peer-review
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1155
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Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)( p11.2q21.2) mutation among northern Europeans
Research output: Contribution to journal › Journal article › Research › peer-review
Published