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Zeynep Tumer

Zeynep Tumer

Professor / Professor

The main interest of research is cloning disease genes using DBCRs (disease related balanced chromosome rearrangements)


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Publications related to WJC

36.   Kwasny D, Vedarethinam I, Shah P, Dimaki M, Silahtaroglu A, Tumer Z, Svendsen WE. Advanced microtechnologies for detection of chromosome abnormalities by fluorescent in situ hybridization. Biomed Microdevices. 2012;14:453-60.
35.   Vedarethinam I, Shah P, Dimaki M, Tumer Z, Tommerup N, Svendsen WE. Rapid Metaphase FISH on chip: Miniaturized microfluidic device for rapid in-situ hybridization. Sensors 2010;10:9831-46.
34.   Erdogan F, Larsen LA, Zhang L, Tumer Z, Tommerup N, Chen W, Jacobsen JR, Schubert M, Jurkatis J, Tzschach A, Ropers HH, Ullmann R. High frequency of submicroscopic genomic aberrations detected by tiling path array CGH in patients with isolated congenital heart disease. J Med Genet. 2008;45:704-9.
33.   Buysse K, Crepel A, Menten B, Pattyn F, Antonacci F, Veltman J, Larsen LA, Tumer Z, de Klein A, van de Laar I, Devriendt K, Mortier G, Speleman F. Mapping of 5q35 chromosomal rearrangements within a genomically unstable region. J Med Genet. 2008;45:672-8.
32.   Moller R, Hansen C, Jackson G, Ullmann R, Ropers H, Tommerup N, Tumer Z. Interstitial deletion of chromosome 4p associated with mild mental retardation, epilepsy and polymicrogyria of the left temporal lobe. Clin Genet. 2007;72:593-8.
31.   Engenheiro E, Saraiva J, Carreira I, Ramos L, Ropers H, Silva E, Tommerup N, Tumer Z. Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome. Clin Genet. 2007;72:464-70.
30.   Fickelscher I, Liehr T, Watts K, Bryant V, Barber JCK, Heidemann S, Siebert R, Hertz JM, Tumer Z, Thomas NS. The Variant inv(2)(p11.2q13) Is a Genuinely Recurrent Rearrangement but Displays Some Breakpoint Heterogeneity. Am J Hum Genet. 2007;81:847-56.
29.   Jakobsen LP, Ullmann R, Christensen SB, Jensen KE, Mølsted K, Henriksen KF, Hansen C, Knudsen MA, Larsen LA, Tommerup N, Tumer Z. Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2. J Med Genet. 2007;44:381-6.
28.   Belloso JM, Bache I, Guitart M, Caballin MR, Halgren C, Kirchhoff M, Ropers H-H, Tommerup N, Tumer Z. Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome. Eur J Hum Genet. 2007;15:711-3.
27.   Hansen CP, Moller R, Tumer Z, Tommerup N. Det genetiske grundlag for epilepsi. Ugeskr Laeger. 2007;169:1102.
26.   Lage K, Karlberg EO, Størling ZM, Ólason PI, Pedersen AG, Rigina O, Tumer Z, Pociot F, Tommerup N, Moreau Y, Brunak S. A human phenome-interactome network of protein complexes implicated in genetic disorders. Nat Biotechnol. 2007;25:309-16.
25.   Zhang L, Tumer Z, Jacobsen JR, Andersen PS, Tommerup N, Larsen LA. Screening of 99 Danish patients with congenital heart disease for GATA4 mutations. Genet Test. 2006;10:277-80.
24.   Bisgaard AM, Kirchhoff M, Tumer Z, Jepsen B, Brondum-Nielsen K, Cohen M, Hamborg-Petersen B, Bryndorf T, Tommerup N, Skovby F. Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features. Am J Med Genet A. 2006;140:2180-7.
23.   Cingöz S, Bisgaard AM, Bache I, Bryndorf T, Kirchhoff M, Petersen, W, Ropers H-H, Maas N, Van Buggenhout G, Tommerup N, Tumer Z. 4q35 deletion and 10p15 duplication associated with immunodeficiency. Am J Med Genet A. 2006;140:2231-5.
22.   Vestergaard J, Pedersen MW, Pedersen N, Ensinger C, Tumer Z, Tommerup N, Poulsen HS, Larsen LA. Hedgehog signaling in small-cell lung cancer: Frequent in vivo but a rare event in vitro. Lung Cancer. 2006;52:281-90.
21.   Gilling M, Dullinger JS, Gesk S, Metzke-Heidemann S, Siebert R, Meyer T, Brondum-Nielsen K, Tommerup N, Ropers HH, Tumer Z, Kalscheuer VM, Thomas NS. Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern Europeans. Am J Hum Genet. 2006;78:878-83.
20.   Baekvad-Hansen M, Tumer Z, Delicado A, Erdogan F, Tommerup N, Larsen LA. Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease. Am J Med Genet A. 2006;140A:427-33.
19.   Dlugaszewska B, Silahtaroglu A, Menzel C, Kubart S, Cohen M, Mundlos S, Tumer Z, Kjaer KW, Friedrich U, Ropers HH, Tommerup N, Neitzel H, Kalscheuer VM. Breakpoints around the HOXD cluster result in various limb malformations. J Med Genet. 2006;43:111-8.
18.   Moller LB, Bukrinsky JT, Molgaard A, Paulsen M, Lund C, Tumer Z, Larsen S, Horn N. Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A. Hum Mutat. 2005;26:84-93.
17.   Tumer Z, Henriksen AM, Bache I, Brixen K, Kalschauer V, Illum N, Rasmussen K, Larsen LA, Tommerup N. Eponymous Jacobsen syndrome: Mapping the breakpoints of the original family suggests an association between the distal 1.1 Mb of chromosome 21 and osteoporosis in Down syndrome. Am J Med Genet A. 2005;135:339-41.
16.   Sogaard M, Tumer Z, Hjalgrim H, Hahnemann J, Friis B, Ledaal P, Faurholt Pedersen V, Baekgaard P, Tommerup N, Cingoz S, Duno M, Brondum-Nielsen K. Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of phenotypes of deletions of 1pter, 2qter, 4pter, 5qter and 9qter. BMC Med Genet. 2005;6:21.
15.   Boonen SE, Stahl D, Rosenberg T, Kreiborg S, Kalscheuer V, Larsen LA, Tommerup N, Brøndum-Nielsen K, Tumer Z. Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome. Am J Med Genet A. 2005;132:324-8.
14.   Henriksen AM, Tumer Z, Tommerup N, Tranebjærg L, Larsen LA. Identification of a novel EYA1 splice-site mutation in a Danish branchio-oto-renal syndrome family. Genet Test. 2004;8:404-6.
13.   Poulsen L, Moller LB, Plunkett K, Belmont J, Tumer Z, Horn N. Menkes disease: first documented report of germ-line mosaicism. Genet Test. 2004;8:286-91.
12.   Tumer Z, Harboe TL, Blennow E, Kalscheuer VM, Tommerup N, Brondum-Nielsen K. Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients. Am J Med Genet A. 2004;130:340-4.
11.   Bache I, Assche EV, Cingoz S, Bugge M, Tumer Z, Hjorth M, Lundsteen C, Lespinasse J, Winther K, Niebuhr A, Kalscheuer V, Liebaers I, Bonduelle M, Tournaye H, Ayuso C, Barbi G, Blennow E, Bourrouillou G, Brondum-Nielsen K, Bruun-Petersen G, Croquette MF, Dahoun S, Dallapiccola B, Davison V, Delobel B, Duba HC, Duprez L, Ferguson-Smith M, FitzPatrick DR, Grace E, Hansmann I, Hulten M, Jensen PK, Jonveaux P, Kristoffersson U, Lopez-Pajares I, McGowan-Jordan J, Murken J, Orera M, Parkin T, Passarge E, Ramos C, Rasmussen K, Schempp W, Schubert R, Schwinger E, Shabtai F, Smith K, Stallings R, Stefanova M, Tranebjerg L, Turleau C, Van Der Hagen CB, Vekemans M, Vokac NK, Wagner K, Wahlstroem J, Zelante L, Tommerup N. An excess of chromosome 1 breakpoints in male infertility. Eur J Hum Genet. 2004;12:993-1000.
10.   Silahtaroglu AN, Jensen LR, Harboe TL, Horn P, Bendixen C, Tommerup N, Tumer Z. Sequencing and mapping of the porcine CCS gene. Anim Genet. 2004;35:353-4.
9.   Hertz JM, Sivertsen B, Silahtaroglu A, Bugge M, Kalscheuer V, Weber A, Wirth J, Ropers HH, Tommerup N, Tumer Z. Early onset, non-progressive, mild cerebellar ataxia co-segregating with a familial balanced translocation t(8;20)(p22;q13). J Med Genet. 2004;41:e25 (doi: 10.1136/jmg.2003.011510).
8.   Midro AT, Panasiuk B, Tumer Z, Stankiewicz P, Silahtaroglu A, Lupski JR, Zemanova Z, Stasiewicz-Jarocka B, Hubert E, Tarasow E, Famulski W, Zadrozna-Tolwinska B, Wasilewska E, Kirchhoff M, Kalscheuer V, Michalova K, Tommerup N. Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome. Am J Med Genet A. 2004;124:179-91.
7.   Tumer Z, Birk Moller L, Horn N. Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A. Hum Mutat. 2003;22:457-64.
6.   Harboe TL, Jensen LR, Hansen C, Horn P, Bendixen C, Tommerup N, Tumer Z. Cloning, characterization and chromosomal localization of the Sus scrofa SLC31A1 gene. Anim Genet. 2003;34:59-61.
5.   Poulsen L, Horn N, Heilstrup H, Lund C, Tumer Z, Moller L. X-linked recessive Menkes disease: identification of partial gene deletions in affected males. Clin Genet. 2002;62:449-57.
4.   Harboe TL, Tommerup N, Tumer Z. Assignment of Zfp100 to murine chromosome 4 band D3/E1 with radiation hybrid mapping. Cytogenet Genome Res. 2002;97:276A.
3.   Silahtaroglu AN, Brondum-Nielsen K, Gredal O, Werdelin L, Panas M, Petersen MB, Tommerup N, Tumer Z. Human CCS gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS). BMC Genetics. 2002;3:5 (doi:10.1186/1471-2156-3-5).
2.   Tumer Z, Croucher PJ, Jensen LR, Hampe J, Hansen C, Kalscheuer V, Ropers HH, Tommerup N, Schreiber S. Genomic structure, chromosome mapping and expression analysis of the human AVIL gene, and its exclusion as a candidate for locus for inflammatory bowel disease at 12q13-14 (IBD2). Gene. 2002;288:179-85.
1.   Harboe TL, Tumer Z, Hansen C, Jensen NA, Tommerup N. Assignment of the human zinc finger gene, ZNF288, to chromosome 3 band q13.2 by radiation hybrid mapping and fluorescence in situ hybridisation. Cytogenet Cell Genet. 2000;89:156-7.

Book chapters related to WJC

3.   Tumer Z, Horn N. Menkes disease. In: Roach ES, Miller VS (eds.). Neurocutaneous Disorders. Cambridge 2003, Cambridge University Press, pages 222-233.
2.   Tumer Z, Horn N, Jensen LR. Expression profiling in Menkes disease. In: Massaro EJ (eds.). Handbook of Copper Pharmacology and Toxicology. Totowa, New Jersey 2002, Humana Press, pages 343-356.
1.   Horn N, Tumer Z. Menkes Disease and Occipital Horn Syndrome. In: Roach and Steinmann (eds.). Connective Tissue and Its Heritable Disorders. New York 2002, Wiley-Liss Inc. pages 651-685.

Presentations related to WJC

The Marie-Curie Conferences and Training Courses on array CGH and molecular cytogenetics
Bari,Italy, October 18, 2005
16.PDF  Zhang L, Bækvad-Hansen M, Bache I, Bugge M, Ashraf I, Ramsoe J J, Tommerup N, Tumer Z, Larsen L A. FISH Mapping of Chromosomal Breakpoints Associated with Congenital Heart Defects.
30th FEBS Congress - 9th IUBMB Conference
Budapest, Hungary, July 02, 2005
15.PDF  Vestergaard J, Pedersen MW, Hasholt L, Tommerup N, Tumer Z and Larsen LA. siRNA mediated knock-down of the Hedgehog pathway member GLI1 inhibits the proliferation of NT2 neuronal precursor cells.
European Human Genetics Conference 2005 (ESHG 2005)
Prague, May 07, 2005
14.PDF  Larsen LA, Bækvad-Hansen M, Delicado A, Kalscheuer V, Tommerup N, Tumer Z. Delineation of a 5q35 microdeletion in congenital heart disease: haploinsufficiency of NKX2-5 can cause Ebstein anomaly.
13.PDF  Hjorth M, Engenheiro E, Holstebroe S, Bache I, Bugge M, Tumer Z, Tommerup N. Visualization of 2260 chromosomal breakpoints in Mendelian Cytogenetics Network database associated with Mental Retardation.
54th Meeting of the American Society of Human Genetics
Toronto, Canada, October 25, 2004
12.PDF  Brudzewsky D, Larsen LA, Claesson M, Gad M, Kristensen NN, Knudsen S, Tumer Z. Genome-wide expression analysis in a mouse model of chronic inflammatory bowel disease.
The 4th European Mucosal Immunology Group Meeting
Lyon, France, October 07, 2004
11.PDF  Brudzewsky D, Larsen LA, Claesson M, Gad M, Kristensen NN, Knudsen S, Tumer Z. Genome-wide expression analysis in a mouse model of chronic inflammatory bowel disease.
European Human Genetics Conference 2004
Münich, June 11, 2004
10.PDF  Hjorth M, Holstebroe S, Bache I, Bugge M, Tumer Z, Tommerup N. A method for prediction of candidate disease genes and regions by integration of positional, functional and clinical data.
Bergen Meeting
Bergen, May 05, 2004
9.PDF  Jensen MK, Becher M, Kjaer I, Niebuhr A, Winther K, Cingoz S, Tumer Z, Tommerup N Hjorth M, Bache I. Overhyppighed af kromosom 1 brud blandt infertile mænd med balancerede kromosombrud.
European Human Genetics Conference 2003
Birmingham, England, May 02, 2003
8.PDF  Cingoz S, Bache I, Kirchoff M, Tumer Z, Ropers HH, Lundsteen C, Tommerup N. Deletion 4q35/duplication 10p15 associated with allergy and arthritis.
7.PDF  Brudzewsky D, Tommerup N, Lundsteen C, Ropers H H, Schreiber S, Tumer Z. Identification of a chromosomal breakpointat 12q14.1-12q14.2 in a patient with Crohn\'s Disease.
6.PDF  Nickelsen LA, Bugge M, Kalscheuer V, Tommerup N, Tumer Z. Characterisation of chromosomal breakpoints in patients with hearing loss and microcephaly.
5.PDF  Gilling M, Tumer Z, Bache I, Bak M, Niebuhr E, Bugge M, Cotterill R M J K. Brøndum-Nielsen3, U. Kristoffersson4, H-H. Ropers 5, N. Tommerup1. FISH-mapping of translocation breakpoints associated with autism.
16th International Mouse Genome Conference
Houston,Texas, USA, November 16, 2002
4.   Harboe TL, Tumer Z, Jensen NA, Tommerup N. The generation of a transgenic model for mouse ZNF151.
European Human Genetics Conference 2002
Strasbourg, France, May 24, 2002
3.   Bache I, Tumer Z, Markus S, Ebner S, Lundsteen C, Kalscheuer V, Ropers HH, Tommerup N. A balanced 9;18-translocation associated with growth retardation, speech impairment, deep-set eyes and prominent nose. Eur J Hum Genet 2002:10(supp);130 (poster 0267).
2.   Boonen SE, Tumer Z, Tommerup N, Stahl D, Rosenberg T, Kreiborg S, Kalscheuer V, Brondum-Nielsen K. Gorlin syndrome in a patient with deletion of the distal part of chromosome 9q and fine mapping of the breakpoints with fluorescence in situ hybridization (FISH). Eur J Hum Genet 2002:10(supp);117 (poster 0201).
Oral presentations
1.   Ruiz-Casares E, Tumer Z, Bugge M, Henriques-Gil N, Rodriguez L, Lopez F, Kroisel P, Wagner K, Lundsteen C, Kalscheuer V, Tommerup N. Mapping of chromosomal breakpoints associated with orofacial clefts. Eur J Hum Genet 2002:10(supp);161 (poster 0418).

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