Zeynep Tümer
Clinical Professor
- 2019
- 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, , 2019, In: Annals of Neurology. 86, 2, p. 181-192 12 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 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. 221-230Research output: Contribution to journal › Review › Research › peer-review
- 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, , 2019, In: American Journal of Human Genetics. 104, 2, p. 213-228 16 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Development, behaviour and autism in individuals with SMC1A variants
SMC1A Consortium, S. C., 2019, In: Journal of Child Psychology and Psychiatry and Allied Disciplines. 60, 3, p. 305-313 9 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Generation and characterization of three isogenic induced pluripotent stem cell lines from a patient with Bardet-Biedl syndrome and homozygous for the BBS5 variant
Hey, C. A. B., Larsen, L. J., Tümer, Asuman Zeynep, Brøndum-Nielsen, K., Grønskov, K., Hjortshøj, T. D. & Møller, L. B., 2019, In: Stem Cell Research. 41, 101594.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements
Schönewolf-Greulich, B., Bisgaard, A. M., Dunø, M., Jespersgaard, C., Rokkjær, M., Hansen, L. K., Tsoutsou, E., Sofokleous, C., Topcu, M., Kaur, S., Van Bergen, N. J., Brøndum-Nielsen, K., Larsen, M. J., Sørensen, K. P., Christodoulou, J., Fagerberg, C. R. & Tümer, Asuman Zeynep, 2019, In: Clinical Genetics. 95, 3, p. 403-408Research output: Contribution to journal › Journal article › Research › peer-review
- 2018
- 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
- 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, , 2018, In: Nature Reviews Endocrinology. 14, p. 229-249Research output: Contribution to journal › Review › Research › peer-review
- 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, , 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
- 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, , 2018, In: Nature Reviews. Genetics. 19, p. 649-666Research output: Contribution to journal › Review › 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