Zeynep Tümer
Clinical Professor
- 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
- 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. 235-239Research output: Contribution to journal › Journal article › Research › peer-review
- 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. 46-50Research output: Contribution to journal › Journal article › Research › peer-review
- 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, , 2018, In: PLOS Genetics. 14, 11, 25 p., e1007780.Research output: Contribution to journal › Journal article › Research › peer-review
- 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
- 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
- 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
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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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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