Research output per year
Research output per year
Personal profile
Expertises
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
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Network
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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, Z., Jun 2023, In: Clinical Genetics. 103, 6, p. 688-692 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
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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., & 31 others, 2 Feb 2023, (E-pub ahead of print) In: Biological Psychiatry.Research output: Contribution to journal › Journal article › Research › peer-review
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Germline (epi)genetics reveals high predisposition in females: a 5-year, nationwide, prospective Wilms tumour cohort
Stoltze, U. K., Hildonen, M., Hansen, T. V. O., Foss-Skiftesvik, J., Byrjalsen, A., Lundsgaard, M., Pignata, L., Grønskov, K., Tumer, A. Z., Schmiegelow, K., Brok, J. S. & Wadt, K. A. W., 5 Apr 2023, (E-pub ahead of print) In: Journal of Medical Genetics.Research output: Contribution to journal › Journal article › Research › peer-review
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Involvement of Mitochondrial Dysfunction in FOXG1 Syndrome
Bjerregaard, V. A., Levy, A. M., Batz, M. S., Salehi, R., Hildonen, M., Hammer, T. B., Møller, R. S., Desler, C. & Tümer, Z., 17 Jan 2023, In: Genes. 14, 2, 246.Research output: Contribution to journal › Journal article › Research › peer-review
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Maternal versus paternal inheritance of a 132 bp 11p15.5 microdeletion affecting KCNQ1OT1 and associated phenotypes
Stoltze, U. K., Hansen, T. V. O., Brok, J. S., Grønskov, K., Tumer, A. Z., Ahlborn, L. B., Schmiegelow, K. & Wadt, K. A. W., Feb 2023, In: Journal of Medical Genetics. 60, 2, p. 128-130 3 p., 108335.Research output: Contribution to journal › Journal article › Research › peer-review