Zeynep Tümer

Zeynep Tümer

Clinical Professor

Member of:

  • Clinical Genetics


Publication year:
All
1 - 25 out of 198Page size: 25
  1. 2024
  2. 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

  3. 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, Tümer, Asuman Zeynep, Digilio, M. C., Priolo, M. & Tartaglia, M., 2024, (Accepted/In press) In: European Journal of Human Genetics.

    Research output: Contribution to journal › Journal article › Research › peer-review

  4. 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, Greiner, H. M., Guerrini, R., Haanpää, M. K., Helin, M., Hoyer, J., Hurst, A. C. E., Kallish, S., Karkare, S. N., Khan, A., Kleinendorst, L., Koch, J., Kothare, S. V., Koudijs, S. M., Lagae, L., Lakeman, P., Leppig, K. A., Lesca, G., Lopergolo, D., Lusk, L., Mackenzie, A., Mei, D., Møller, R. S., Pereira, E. M., Platzer, K., Quelin, C., Revah-Politi, A., Rheims, S., Rodríguez-Palmero, A., Rossi, A., Santorelli, F., Seinfeld, S., Sell, E., Stephenson, D., Szczaluba, K., Trinka, E., Umair, M., Van Esch, H., van Haelst, M. M., Veenma, D. C. M., Weber, S., Weckhuysen, S., Zacher, P., Tümer, Asuman Zeynep & Rubboli, Guido, 2024, In: Epilepsia. 65, 4, p. 1029-1045 17 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  5. E-pub ahead of print

    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, Sully, K., Murali, C. N., Burrage, L. C., Plaud Gonzalez, J. A., Parnes, M., Friedman, J., Isidor, B., Lefranc, J., Redon, S., Heron, D., Mignot, C., Keren, B., Fradin, M., Dubourg, C., Mercier, S., Besnard, T., Cogne, B., Deb, W., Rivier, C., Milani, D., Bedeschi, M. F., Di Napoli, C., Grilli, F., Marchisio, P., Koudijs, S., Veenma, D., Argilli, E., Lynch, S. A., Au, P. Y. B., Ayala Valenzuela, F. E., Brown, C., Masser-Frye, D., Jones, M., Patron Romero, L., Li, W. L., Thorpe, E., Hecher, L., Johannsen, J., Denecke, J., McNiven, V., Szuto, A., Wakeling, E., Cruz, V., Sency, V., Wang, H., Piard, J., Kortüm, F., Herget, T., Bierhals, T., Condell, A., Zeev, B. B., Kaur, S., Christodoulou, J., Piton, A., Zweier, C., Kraus, C., Micalizzi, A., Trivisano, M., Specchio, N., Lesca, G., Møller, R. S., Tümer, Asuman Zeynep, Musgaard, M., Gerard, B., Lemke, J. R., Shi, Y. S. & Kristensen, Anders Skov, 2024, (E-pub ahead of print) In: Brain.

    Research output: Contribution to journal › Journal article › Research › peer-review

  6. 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

  7. 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

  8. 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, O’Connor, N., Bhoj, E. J., Harr, M. H., Lemire, G., Boycott, K. M., Towne, M., Li, M., Tarnopolsky, M., Brady, L., Parker, M. J., Faghfoury, H., Parsley, L. K., Agolini, E., Dentici, M. L., Novelli, A., Wright, M., Palmquist, R., Lai, K., Scala, M., Striano, P., Iacomino, M., Zara, F., Cooper, A., Maarup, T. J., Byler, M., Lebel, R. R., Balci, T. B., Louie, R., Lyons, M., Douglas, J., Nowak, C., Afenjar, A., Hoyer, J., Keren, B., Maas, S. M., Motazacker, M. M., Martinez-Agosto, J. A., Rabani, A. M., McCormick, E. M., Falk, M. J., Ruggiero, S. M., Helbig, I., Møller, R. S., Tessarollo, L., Ardori, F. T., Palko, M. E., Hsieh, T. C., Krawitz, P. M., Ganapathi, M., Gelb, B. D., Jobanputra, V., Wilson, A., Greally, J., Jacquemont, S., Jizi, K., Bruel, A. L., Quelin, C., Misra, V. K., Chick, E., Romano, C., Greco, D., Arena, A., Morleo, M., Nigro, V., Seyama, R., Uchiyama, Y., Matsumoto, N., Taira, R., Tashiro, K., Sakai, Y., Yigit, G., Wollnik, B., Wagner, M., Kutsche, B., Hurst, A. C. E., Thompson, M. L., Schmidt, R., Randolph, L., Spillmann, R. C., Shashi, V., Higginbotham, E. J., Cordeiro, D., Carnevale, A., Costain, G., Khan, T., Funalot, B., Mau-Them, F. T., Garcia Moya, L. F., García-Miñaúr, S., Osmond, M., Chad, L., Quercia, N., Carrasco, D., Li, C., Sanchez-Valle, A., Kelley, M., Nizon, M., Jensson, B. O., Sulem, P., Stefansson, K., Gorokhova, S., Busa, T., Rio, M., Habdallah, H. H., Lesieur-Sebellin, M., Amiel, J., Pingault, V., Mercier, S., Vincent, M., Philippe, C., Fatus-Fauconnier, C., Friend, K., Halligan, R. K., Biswas, S., Rosser, J., Shoubridge, C., Corbett, M., Barnett, C., Gecz, J., Leppig, K., Slavotinek, A., Marcelis, C., Pfundt, R., de Vries, B. B. A., van Slegtenhorst, M. A., Brooks, A. S., Cogne, B., Rambaud, T., Tümer, Asuman Zeynep, Zackai, E. H., Akizu, N., Song, Y. & Hakonarson, H., 2024, In: Journal of Clinical Investigation. 134, 1, 17 p., e171235.

    Research output: Contribution to journal › Journal article › Research › peer-review

  9. 2023
  10. 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, Krey, I., Fontana, P., Lonardo, F., Riley, S., Kretzer, J., Rankin, J., Reis, L. M., Semina, E. V., Reuter, M. S., Scherer, S. W., Iascone, M., Weis, D., Fagerberg, C. R., Brasch-Andersen, C., Hansen, L. K., Kuechler, A., Noble, N., Gardham, A., Tenney, J., Rathore, G., Beck-Woedl, S., Haack, T. B., Pavlidou, D. C., Atallah, I., Vodopiutz, J., Janecke, A. R., Hsieh, T., Lesmann, H., Klinkhammer, H., Krawitz, P. M., Lemke, J. R., Jamra, R. A., Nieto, M., Tümer, Asuman Zeynep & Platzer, K., 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

  11. 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

  12. 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

  13. Published

    Generation of eight hiPSCs lines from two pathogenic variants in CACNA1A using the CRISPR-Cas9 gene editing technology

    Rivera-Sánchez, P., Søndergaard, L., Wathikthinnakon, Methi, B. D. Magnusson, H., Frederiksen, Henriette Reventlow S, Aabæk Hammer, F., Taleb, R., Christian Cassidy, C., Tranholm Bruun, M., Tümer, Asuman Zeynep, Holst, B., Brasch-Andersen, C., Møller, R., Freude, Kristine & Chandrasekaran, Abinaya, 2023, In: Stem Cell Research. 71, 103193.

    Research output: Contribution to journal › Journal article › Research › peer-review

  14. Published

    Germline (epi)genetics reveals high predisposition in females: a 5-year, nationwide, prospective Wilms tumour cohort

    Stoltze, U. K., Hildonen, M., Hansen, Thomas van Overeem, Foss-Skiftesvik, J., Byrjalsen, A., Lundsgaard, M., Pignata, L., Grønskov, K., Tümer, Asuman Zeynep, Schmiegelow, Kjeld, Brok, J. S. & Wadt, Karin Anna Wallentin, 2023, In: Journal of Medical Genetics. 60, 9, p. 842-849

    Research output: Contribution to journal › Journal article › Research › peer-review

  15. Published

    Imprinting disorders

    Eggermann, T., Monk, D., de Nanclares, G. P., Kagami, M., Giabicani, E., Riccio, A., Tümer, Asuman Zeynep, Kalish, J. M., Tauber, M., Duis, J., Weksberg, R., Maher, E. R., Begemann, M. & Elbracht, M., 2023, In: Nature Reviews Disease Primers. 9, 19 p., 33.

    Research output: Contribution to journal › Journal article › Research › peer-review

  16. Published

    Involvement of Mitochondrial Dysfunction in FOXG1 Syndrome

    Bjerregaard, Victoria Alexandra, Levy, A. M., Batz, M. S., Salehi, R., Hildonen, M., Hammer, T. B., Møller, R. S., Desler, Claus & Tümer, Asuman Zeynep, 2023, In: Genes. 14, 2, 246.

    Research output: Contribution to journal › Journal article › Research › peer-review

  17. Published

    Maternal versus paternal inheritance of a 132 bp 11p15.5 microdeletion affecting KCNQ1OT1 and associated phenotypes

    Stoltze, U. K., Hansen, Thomas van Overeem, Brok, J. S., Gronskov, K., Tümer, Asuman Zeynep, Ahlborn, L. B., Schmiegelow, Kjeld & Wadt, Karin Anna Wallentin, 2023, In: Journal of Medical Genetics. 60, 2, p. 128-130 3 p., 108335.

    Research output: Contribution to journal › Journal article › Research › peer-review

  18. Published

    Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome

    Jain, P., Miller-Fleming, T., Topaloudi, A., Yu, D., Drineas, P., Georgitsi, M., Yang, Z., Rizzo, R., Müller-Vahl, K. R., Tumer, Z., Mol Debes, N., Hartmann, A., Depienne, C., Worbe, Y., Mir, P., Cath, D. C., Boomsma, D. I., Roessner, V., Wolanczyk, T., Janik, P. & 32 others, Szejko, N., Zekanowski, C., Barta, C., Nemoda, Z., Tarnok, Z., Buxbaum, J. D., Grice, D., Glennon, J., Stefansson, H., Hengerer, B., Benaroya-Milshtein, N., Cardona, F., Hedderly, T., Heyman, I., Huyser, C., Morer, A., Mueller, N., Munchau, A., Plessen, K. J., Porcelli, C., Walitza, S., Schrag, A., Martino, D., Dietrich, A., Mathews, C. A., Scharf, J. M., Hoekstra, P. J., Davis, L. K., Paschou, P., Psychiatric Genomics Consortium Tourette Syndrome Working Group (PGC-TS), P. G. C. T. S. W. G. (., EMTICS Collaborative Group, E. C. G. & TS-EUROTRAIN Network, T. N., 2023, In: Translational Psychiatry. 13, 10 p., 69.

    Research output: Contribution to journal › Journal article › Research › peer-review

  19. Published

    Solving the unsolved genetic epilepsies: Current and future perspectives

    Johannesen, K. M., Tümer, Asuman Zeynep, Weckhuysen, S., Barakat, T. S. & Bayat, Allan, 2023, In: Epilepsia. 64, 12, p. 3143-3154 12 p.

    Research output: Contribution to journal › Review › Research › peer-review

  20. 2022
  21. Published

    Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences

    Eggermann, T., Yapici, E., Bliek, J., Pereda, A., Begemann, M., Russo, S., Tannorella, P., Calzari, L., de Nanclares, G. P., Lombardi, P., Temple, I. K., Mackay, D., Riccio, A., Kagami, M., Ogata, T., Lapunzina, P., Monk, D., Maher, E. R. & Tümer, Asuman Zeynep, 2022, In: Clinical Epigenetics. 14, 1, 17 p., 41.

    Research output: Contribution to journal › Journal article › Research › peer-review

  22. Published

    Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder

    Christensen, M. B., Levy, A. M., Mohammadi, N. A., Niceta, M., Kaiyrzhanov, R., Dentici, M. L., Al Alam, C., Alesi, V., Benoit, V., Bhatia, K. P., Bierhals, T., Boßelmann, C. M., Buratti, J., Callewaert, B., Ceulemans, B., Charles, P., De Wachter, M., Dehghani, M., D'haenens, E., Doco-Fenzy, M. & 37 others, Geßner, M., Gobert, C., Guliyeva, U., Haack, T. B., Hammer, T. B., Heinrich, T., Hempel, M., Herget, T., Hoffmann, U., Horvath, J., Houlden, H., Keren, B., Kresge, C., Kumps, C., Lederer, D., Lermine, A., Magrinelli, F., Maroofian, R., Vahidi Mehrjardi, M. Y., Moudi, M., Müller, A. J., Oostra, A. J., Pletcher, B. A., Ros-Pardo, D., Samarasekera, S., Tartaglia, M., Van Schil, K., Vogt, J., Wassmer, E., Winkelmann, J., Zaki, M. S., Zech, M., Lerche, H., Radio, F. C., Gomez-Puertas, P., Møller, R. S. & Tümer, Asuman Zeynep, 2022, In: Clinical Genetics. 102, 2, p. 98-109 12 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  23. Published

    Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation

    McTiernan, N., Tranebjærg, Lisbeth, Bjørheim, A. S., Hogue, J. S., Wilson, W. G., Schmidt, B., Boerrigter, M. M., Nybo, Maja Lind, Smeland, M. F., Tümer, Asuman Zeynep & Arnesen, T., 2022, In: Human Genetics. 141, p. 1355–1369

    Research output: Contribution to journal › Journal article › Research › peer-review

  24. Published

    Concordance and comorbidities among monozygotic twins with tic disorders

    Pedersen, J. H., Skytthe, A., Bybjerg-Grauholm, J., Kucukyildiz, A. S., Skov, L., Debes, Nanette M Monique Mol & Tümer, Asuman Zeynep, 2022, In: Journal of Psychiatric Research. 146, p. 297-303

    Research output: Contribution to journal › Journal article › Research › peer-review

  25. Published

    Enhancing neuroimaging genetics through meta-analysis for Tourette syndrome (ENIGMA-TS): A worldwide platform for collaboration

    Paschou, P., Jin, Y., Müller-Vahl, K., Möller, H. E., Rizzo, R., Hoekstra, P. J., Roessner, V., Debes, N. M., Worbe, Y., Hartmann, A., Mir, P., Cath, D., Neuner, I., Eichele, H., Zhang, C., Lewandowska, K., Munchau, A., Verrel, J., Musil, R., Silk, T. J. & 41 others, Hanlon, C. A., Bihun, E. D., Brandt, V., Dietrich, A., Forde, N., Ganos, C., Greene, D. J., Chu, C., Grothe, M. J., Hershey, T., Janik, P., Koller, J. M., Martin-Rodriguez, J. F., Müller, K., Palmucci, S., Prato, A., Ramkiran, S., Saia, F., Szejko, N., Torrecuso, R., Tümer, Asuman Zeynep, Uhlmann, A., Veselinovic, T., Wolańczyk, T., Zouki, J. J., Jain, P., Topaloudi, A., Kaka, M., Yang, Z., Drineas, P., Thomopoulos, S. I., White, T., Veltman, D. J., Schmaal, L., Stein, D. J., Buitelaar, J., Franke, B., van den Heuvel, O., Jahanshad, N., Thompson, P. M. & Black, K. J., 2022, In: Frontiers in Psychiatry. 13, 11 p., 958688.

    Research output: Contribution to journal › Journal article › Research › peer-review

  26. Published

    First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders

    Mackay, D., Bliek, J., Kagami, M., Tenorio-Castano, J., Pereda, A., Brioude, F., Netchine, I., Papingi, D., de Franco, E., Lever, M., Sillibourne, J., Lombardi, P., Gaston, V., Tauber, M., Diene, G., Bieth, E., Fernandez, L., Nevado, J., Tümer, Z., Riccio, A. & 9 others, Maher, E. R., Beygo, J., Tannorella, P., Russo, S., de Nanclares, G. P., Temple, I. K., Ogata, T., Lapunzina, P. & Eggermann, T., 2022, In: Clinical Epigenetics. 14, 143.

    Research output: Contribution to journal › Journal article › Research › peer-review

  27. Published

    High Resolution Analysis of DMPK Hypermethylation and Repeat Interruptions in Myotonic Dystrophy Type 1

    Rasmussen, A., Hildonen, M., Vissing, John, Duno, M., Tümer, Asuman Zeynep & Birkedal, U., 2022, In: Genes. 13, 6, 12 p., 970.

    Research output: Contribution to journal › Journal article › Research › peer-review

  28. Published

    Neurodevelopmental Disorders Associated with PSD‐95 and Its Interaction Partners

    Levy, A. M., Gomez‐puertas, P. & Tümer, Asuman Zeynep, 2022, In: International Journal of Molecular Sciences. 23, 8, 17 p., 4390.

    Research output: Contribution to journal › Review › Research › peer-review

Previous 1 2 3 4 5 6 7 8 Next

ID: 7071