Zeynep Tümer
Clinical Professor
- 2024
- Published
A deep intronic DLG4 variant resulting in DLG4-related synaptopathy
Levy, A. M., Ganapathi, M., Chung, W. K. & Tümer, Asuman Zeynep, 2024, In: Clinical Genetics. 105, 1, p. 77-80 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Accepted/In press
DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism
Niceta, M., Ciolfi, A., Ferilli, M., Pedace, L., Cappelletti, C., Nardini, C., Hildonen, M., Chiriatti, L., Miele, E., Dentici, M. L., Gnazzo, M., Cesario, C., Pisaneschi, E., Baban, A., Novelli, A., Maitz, S., Selicorni, A., Squeo, G. M., Merla, G., Dallapiccola, B. & 4 others, , 2024, (Accepted/In press) In: European Journal of Human Genetics.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Developmental epileptic encephalopathy in DLG4-related synaptopathy
Kassabian, B., Levy, A. M., Gardella, E., Aledo-Serrano, A., Ananth, A. L., Brea-Fernández, A. J., Caumes, R., Chatron, N., Dainelli, A., De Wachter, M., Denommé-Pichon, A-S., Dye, T. J., Fazzi, E., Felt, R., Fernández-Jaén, A., Fernández-Prieto, M., Gantz, E., Gasperowicz, P., Gil-Nagel, A., Gómez-Andrés, D. & 44 others, , 2024, In: Epilepsia. 65, 4, p. 1029-1045 17 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes
Rinaldi, B., Bayat, A., Zachariassen, L. G., Sun, J-H., Ge, Y-H., Zhao, D., Bonde, K., Madsen, L. H., Awad, I. A. A., Bagiran, D., Sbeih, A., Shah, S. M., El-Sayed, S., Lyngby, S. M., Pedersen, M. G., Stenum-Berg, C., Walker, L. C., Krey, I., Delahaye-Duriez, A., Emrick, L. T. & 67 others, , 2024, In: Brain. 147, 5, p. 1837-1855Research output: Contribution to journal › Journal article › Research › peer-review
- E-pub ahead of print
Genome-wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome
The PGC TS Working Group, T. P. T. W. G., The TSAICG, T. T., The TSGeneSEE Initiative, T. T. I., The EMTICS Collaborative Group, T. E. C. G., The TS-EUROTRAIN Network, T. T. N. & The TIC Genetics Collaborative Group, T. T. G. C. G., 2024, (E-pub ahead of print) In: Biological Psychiatry.Research output: Contribution to journal › Journal article › Research › peer-review
- Accepted/In press
Microphthalmia and congenital cataract in two patients with Stickler syndrome type II: a case report
Boysen, K. B., Tümer, Asuman Zeynep, Bach-Holm, Daniella, Bisgaard, A. M. & Kessel, Line, 2024, (Accepted/In press) In: Ophthalmic Genetics. 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
Li, D., Wang, Q., Bayat, A., Battig, M. R., Zhou, Y., Bosch, D. G. M., van Haaften, G., Granger, L., Petersen, A. K., Pérez-Jurado, L. A., Aznar-Laín, G., Aneja, A., Hancarova, M., Bendova, S., Schwarz, M., Pourova, R. K., Sedlacek, Z., Keena, B. A., March, M. E., Hou, C. & 133 others, , 2024, In: Journal of Clinical Investigation. 134, 1, 17 p., e171235.Research output: Contribution to journal › Journal article › Research › peer-review
- 2023
- Published
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology
Oppermann, H., Marcos-Grañeda, E., Weiss, L. A., Gurnett, C. A., Jelsig, A. M., Vineke, S. H., Isidor, B., Mercier, S., Magnussen, K., Zacher, P., Hashim, M., Pagnamenta, A. T., Race, S., Srivastava, S., Frazier, Z., Maiwald, R., Pergande, M., Milani, D., Rinelli, M., Levy, J. & 35 others, , 2023, In: European journal of human genetics : EJHG. 31, 11, p. 1251-1260 10 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Can polygenic risk scores help explain disease prevalence differences around the world? A worldwide investigation
Jain, P. R., Burch, M., Martinez, M., Mir, P., Fichna, J. P., Zekanowski, C., Rizzo, R., Tümer, Asuman Zeynep, Barta, C., Yannaki, E., Stamatoyannopoulos, J., Drineas, P. & Paschou, P., 2023, In: BMC Genomic Data. 24, 1, 12 p., 70.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
DNA methylation signature classification of rare disorders using publicly available methylation data
Hildonen, M., Ferilli, M., Hjortshøj, T. D., Dunø, M., Risom, L., Bak, M., Ek, J., Møller, R. S., Ciolfi, A., Tartaglia, M. & Tümer, Asuman Zeynep, 2023, In: Clinical Genetics. 103, 6, p. 688-692 5 p.Research 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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1860
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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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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