Zeynep Tümer, MD, PhD

Professor, head of research and development

Kennedy Center, Copenhagen University Hospital, Rigshospitalet
URL: www.kennedy.dk
Gl. Landevej 7,
2600 Glostrup,
Denmark

tel: +45 43260155
fax: +45 43431130
e-mail: This email address is being protected from spambots. You need JavaScript enabled to view it.


Short Bio

MD, PhD Professor in Applied Human Molecular Genetics. ZT has more than 20 years of hands-on experience in cytogenetics and molecular genetics, and her main research interest is to identify genes and (epi)genetic mechanisms leading to human disorders, through chromosome rearrangements or genomic imbalances.Using this approach we have identified the gene defective in the neurodegenerative Menkes disease, established involvement of DYRK1A gene in microcephaly and detected several chromosome rearrangements, or microdeletions/duplications leading to a clinical phenotype through dosage effect of one or more genes. Her recent interest is identifying the genetic predisposing factors to Tourette syndrome and comorbidity disorders.  Further information can be found at the following link: Zeynep Tümer.

Selected Publications

  1. Tümer Z (2013) An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome. Hum Mutat 34: 417-429.
  2. Ravn K, Lindquist SG, Nielsen K, Dahm TL, Tümer Z (2012) Deletion of CUL4B leads to concordant phenotype in a monozygotic twin pair. Clin Genet  82:292-294.
  3. Møller RS, Hoeltzenbein M, Heye B, Kübart S, Vogel I, Ullmann R, Schröer A, Ruschmann J, Tommerup N, Ropers HH, Tümer Z, Kalscheuer VM (2008). Disruption of DYRK1A on chromosome 21q22.2 in two unrelated patients with microcephaly. Am J Hum Genet 82:1165-1170.
  4. Belloso JM, Bache I, Guitart M, Caballin MR, Halgren C, Kirchhoff M, Ropers HH, Tommerup N, Tümer Z (2007) Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome. Eur J Hum Genet 15:711-713.
  5. Jakobsen LP, Ullmann R, Christensen SB, Jensen KE, Mølsted K, Henriksen KF, Hansen C, Knudsen MA, Larsen LA, Tommerup N, Tümer Z (2007). Pierre Robin Sequence may be caused by dysregulation of both SOX9 and KCNJ2. J Med Genet 44:381-386.
  6. Chelly J, Tümer Z*, Tønnesen T, Petterson A, Ishikawa-Brush Y, Tommerup N, Horn N, Monaco AP (1993) Isolation of a candidate gene for Menkes disease that encodes for a potential heavy metal binding protein. Nature Genetics 3:14-19. * Joint first authorship.

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