Zeynep Tümer
Clinical Professor
- 2019
- 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
- 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
- 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
ID: 7071
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2602
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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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1859
downloads
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
Published -
1136
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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