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
- Published
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, In: European Journal of Human Genetics. 32, 7, p. 819-826Research 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
- Published
Genome-wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome
Tsetsos, F., Topaloudi, A., Jain, P., Yang, Z., Yu, D., Kolovos, P., Tumer, Z., Rizzo, R., Hartmann, A., Depienne, C., Worbe, Y., Müller-Vahl, K. R., Cath, D. C., Boomsma, D. I., Wolanczyk, T., Zekanowski, C., Barta, C., Nemoda, Z., Tarnok, Z., Padmanabhuni, S. S. & 28 others, , 2024, In: Biological Psychiatry. 96, 2, p. 114-124Research output: Contribution to journal › Journal article › Research › peer-review
- Published
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. & Kessel, Line, 2024, In: Ophthalmic Genetics. 45, 3, p. 313-318 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis
Mackay, D. J. G., Gazdagh, G., Monk, D., Brioude, F., Giabicani, E., Krzyzewska, I. M., Kalish, J. M., Maas, S. M., Kagami, M., Beygo, J., Kahre, T., Tenorio-Castano, J., Ambrozaitytė, L., Burnytė, B., Cerrato, F., Davies, J. H., Ferrero, G. B., Fjodorova, O., Manero-Azua, A., Pereda, A. & 12 others, , 2024, In: Clinical Epigenetics. 16, 19 p., 99.Research output: Contribution to journal › Review › 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
- Accepted/In press
The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants
Furia, F., Levy, A. M., Theunis, M., Bamshad, M. J., Bartos, M. N., Bijlsma, E. K., Brancati, F., Cejudo, L., Chong, J. X., De Luca, C., Dean, S. J., Egense, A., Goel, H., Guenzel, A. J., Hüffmeier, U., Legius, E., Mancini, G. M. S., Marcos-Alcalde, I., Niclass, T., Planes, M. & 16 others, , 2024, (Accepted/In press) In: Clinical Genetics. 11 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Unraveling GRIA1 neurodevelopmental disorders: Lessons learned from the p.(Ala636Thr) variant
Tvergaard, N. K., Tkemaladze, T., Stödberg, T., Kvarnung, M., Tatton-Brown, K., Baralle, D., Tümer, Asuman Zeynep & Bayat, A., 2024, In: Clinical Genetics. 106, 4, p. 427-436 10 p.Research output: Contribution to journal › Journal article › Research › peer-review
ID: 7071
Most downloads
-
2621
downloads
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
Published -
1894
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 -
1155
downloads
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