1992 …2024

Research activity per year

Personal profile


Expert in applied human molecular genetics. Expert areas include microscopic and submicroscopic structural variations (chromosome rearrangements, and submicroscopic copy number variations, CNVs) and their involvement in disease pathogenesis; intragenic small variations (mutations) and their association with human disorders. ZT has hands-on-experience on several laboratory techniques including chromosome analysis, chromosome microarray analyses, fluorescence in situ hybridization (FISH), gene cloning technologies, different DNA and RNA tecniques. 

Main research areas

To identify genes and genetic/epigenetic mechanisms involved in monogenic and complex neurodevelopmental/

neuropsychiatric disorders: e.g. cloning of the Menkes disease gene, ATP7A; elucidation of the role of DYRK1A

in microcephaly; association of AADAC and IMMP2L in Tourette syndrome. 

Current research

Identification of genes, genetic and epigenetic mechanisms involved different human disorders including: 

  • Tourette syndrome and co-morbidities (ADHD, OCD, Autism)
  • Intellectual disabilities
  • Imprinting disorders
  • Cornelia de Lange syndrome and other cohesion deficiency disorders
  • Rett- syndrome and related disorders


Zeynep Tümer


Current department(s)
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet; affiliated to Department of Clinical Medicine (IKM), Faculty of Health and Medical Sciences, University of Copenhagen


2014  DMSc, Faculty of Health and Medical Sciences, University of Copenhagen.

1996  PhD, Faculty of Health and Medical Sciences, University of Copenhagen.

1985  MD, Egean University Medical School, Izmir, Turkey.

Scientific career profile

Contribution to science:  

  1. Our studies with the rare copper metabolism disorder, Menkes disease, resulted in identification of the disease gene and 45 scientific publications. This work led to the establishment of the genetic diagnosis of the disorder, including the first DNA-based prenatal diagnosis worldwide, and curation of a public variation database for the benefit of clinicians and researchers;

  2. Our studies with Tourette syndrome resulted in 19 scientific publications and contributed to the understanding of the underlying genetic factors in disease aetiology;

  3. Our studies with rare genetic disorders resulted in consensus statements on clinical/genetic diagnosis and treatment of imprinting disorders and Cornelia de Lange syndrome;

  4. Our studies with other neurodevelopmental disorders resulted in more than 100 publications, and among others description of DLG4-related synaptopathies, and involvement of DYRK1A gene in intellectual disability. 

Expertise: Hands on or theoretical expertise in a wide range of lab methods and in genetic diagnosis. Several years of administrative, educational and scientific expertise as professor since 2008, Vice-director of Wilhelm Johannsen Centre for Functional Genome Research Center support by Danish National Research Foundation- Grundforskningsfond (2001-2008); Assistant and associate professor at the University of Copenhagen (1996-2008)

Current research group: two PhD, 2 Master and 1 bachelor students. We work with different genetic and epigenetic mechanisms underlying neurodevelopmental disorders and have infrastructure to carry out a broad range of genetic and epigenetic (DNA methylation) analyses and functional studies including RNA studies and cell models.

Collaborators:  We have a wide range of national and international collaborations and I have been member of several terminated international COST actions. Currently, I am executive committee member and co-leader of research working group in ERN-ITHACA (European Reference Network for Intellectual disability, telehealth and congenital abnormalities) (since 2020) and member of research working group in COST action MINDDS (Maximising impact of research in NeuroDevelopmental Disorders (CA16210) (since 2017). I also have close collaboration with a newly established patient organisation (shinesyndrome.org) and in the medical advisory board.

Bibliometric summary

221 peer-reviewed published/in press manuscripts: 112 manuscripts with first or last. 12 Book-chapters, proceedings, on-line publications.

Google Scholar h-index 48, citations 9540;  WoS h-index 41 (citations 6466);

Publications in high impact journals Nature Genetics, Nature Reviews, Nature Reviews in Endocrinology, Nature Reviews in Biotechnology, American Journal of Human Genetics, Genetics in Medicine, Human Molecular Biology

Some publications:

Kumble et al. The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder, 2022 Hum Mut;

Rodriguez-Palmero et al DLGA4-associated synaptopathies: A new brain disorder, 2021 Genet Med;

Kline et al Diagnosis and Management in Cornelia de Lange Syndrome: First International Consensus Statement, 2018 Nature Reviews Endocrinol;

Wakeling et al Diagnosis and management of Silver-Russell syndrome: First international consensus statement, 2017 Nature Reviews Genet;

Brioude et al. Clinical and Molecular Diagnosis, Screening and Management of Beckwith-Wiedemann syndrome: An International Consensus Statement, 2017 Nature Reviews Endocrinol;

Bertelsen et al Association of AADAC deletion and Gilles de la Tourette syndrome in a large European cohort, 2016 Biol Psych; 
Tümer (monogram) An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome, 2014 Hum Mutat;

Møller et al. Disruption of DYRK1A on chromosome 21q22.2 in two unrelated patients with microcephaly, 2008 Am J Hum Genet;

Tümer et al Identification of point mutations in 41 unrelated Menkes disease patients, 1997 Am J Hum Genet;

Tümer et al Early copper histidine treatment for Menkes disease, 1996 Nature Genet;

Chelly and Tümer (shared authorship) et al Isolation of a candidate gene for Menkes disease that encodes for a potential heavy metal binding protein, 1993 Nature Genet

Contributions to mentoring, training, supervision

Mentoring philosophy: To create a transparent and honest scientific environment, where mutual respect, free exchange of ideas and motivation are the key elements; and sharing my own experience and supporting the mentee in his/her future career are the major goals.

Current and completed supervisions: 8 PostDoc, 24 PhD students, 37 Master students, 43 Bachelor students or other pre-graduate projects. Supervision of several international research fellows/Erasmus students. I have followed the carriers of most of my PhD students and PostDocs, but due to the large number, it is not possible to list the future careers of all in limited space. The PhD students had different carriers, including being postdocs (e.g. in Harvard Medical School; Max Planck Institute, Berlin; several in eniversity of Copenhagen, Danish Cancer Society), postdocs/senior scientists or consultants (Rigshospitalet). Some of my previous students are at the National Genome Center (group leader), Dianalund Epilepsy Hospital (professor), Bispebjerg Hospital (research leader), Danish Cancer Society (PostDoc).  

Postgraduate courses: Organiser, co-organiser or teacher of several courses including, Copenhagen Summer School course ‘2017), International School for Imprinting disorders (2014-2017), Next Generation Sequencing Nordic meetings (2016-2019 in partnership with Biotexcel) and various PhD and Post Graduate courses.

Pregraduate courses/teaching: more than 4000 confrontation hours at the University of Copenhagen since 1997; organization of the clinical genetic teaching as representing professor or coordinator since 2012.

Other: Assessment of several national and international professorships, PhD defenses, grant proposals etc. Member of Censor Corps since 2009.

External positions

Professor, Department of Clinical Medicine, University of Copenhagen

2008 → …


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Collaborations and top research areas from the last five years

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  • A deep intronic DLG4 variant resulting in DLG4-related synaptopathy

    Levy, A. M., Ganapathi, M., Chung, W. K. & Tümer, Z., 2024, In: Clinical Genetics. 105, 1, p. 77-80 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

    2 Citations (Scopus)
  • 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 othersGreiner, 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. V., 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, Z. & Rubboli, G., Apr 2024, In: Epilepsia. 65, 4, p. 1029-1045 17 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

    1 Citation (Scopus)
  • 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 othersTumer, Z., Digilio, M. C., Priolo, M. & Tartaglia, M., 2024, (E-pub ahead of print) In: European Journal of Human Genetics.

    Research output: Contribution to journalJournal articleResearchpeer-review

  • 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 othersSully, 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, Z., Musgaard, M., Gerard, B., Lemke, J. R., Shi, Y. S. & Kristensen, A. S., 3 May 2024, In: Brain : a journal of neurology. 147, 5, p. 1837-1855 19 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  • Microphthalmia and congenital cataract in two patients with Stickler syndrome type II: a case report

    Boysen, K. B., Tümer, Z., Bach-Holm, D., Bisgaard, A-M. & Kessel, L., 1 Feb 2024, (E-pub ahead of print) In: Ophthalmic Genetics. p. 1-6 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review