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The Capital Region of Denmark - a part of Copenhagen University Hospital
  1. 2015
  2. Published

    A t(3;9)(q25.1;q34.3) translocation leading to OLFM1 fusion transcripts in Gilles de la Tourette syndrome, OCD and ADHD

    Bertelsen, B., Melchior, L., Jensen, L. R., Groth, C., Nazaryan, L., Debes, N. M., Skov, L., Xie, G., Sun, W., Brøndum-Nielsen, K., Kuss, A. W., Chen, W. & Tümer, Z., 28 Feb 2015, In : Psychiatry Research. 225, 3, p. 268-275 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Published

    Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion

    Chatron, N., Haddad, V., Andrieux, J., Désir, J., Boute, O., Dieux, A., Baumann, C., Drunat, S., Gérard, M., Bonnet, C., Leheup, B., Till, M., Rossi, M., Flori, E., Alembik, Y., Stewart, H., McParland, J., Bernardini, L., Castelluccio, P., Roos, L., Tümer, Z., Fagan, K., Hackett, A., Bain, N., van Haeringen, A., Ruivenkamp, C., Benzacken, B., Sanlaville, D., Edery, P., Aboura, A. & Schluth-Bolard, C., 25 Feb 2015, In : American Journal of Medical Genetics. Part A. 167, 5, p. 1008-17

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Published

    35-Year Follow-Up of a Case of Ring Chromosome 2: Array-CGH Analysis and Literature Review of the Ring Syndrome

    Sarri, C., Douzgou, S., Kontos, H., Anagnostopoulou, K., Tümer, Z., Grigoriadou, M., Petersen, M. B., Kokotas, H., Merou, K., Pandelia, E., Giouroukou, E., Papanikolaou, K., Côté, G. B. & Gyftodimou, Y., 2015, In : Cytogenetic and Genome Research. 145, 1, p. 6-13 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Published
  6. Published

    Analysis of t(9;17)(q33.2;q25.3) chromosomal breakpoint regions and genetic association reveals novel candidate genes for bipolar disorder

    Rajkumar, A. P., Christensen, J. H., Mattheisen, M., Jacobsen, I., Bache, I., Pallesen, J., Grove, J., Qvist, P., McQuillin, A., Gurling, H. M., Tümer, Z., Mors, O. & Børglum, A. D., 2015, In : Bipolar Disorders (English Edition, Print). 17, 2, p. 205-11

    Research output: Contribution to journalJournal articleResearchpeer-review

  7. Published

    Case report a novel KERA mutation associated with cornea plana and its predicted effect on protein function

    Roos, L., Bertelsen, B., Harris, P., Bygum, A., Jensen, H., Grønskov, K. & Tümer, Z., 2015, In : BMC Medical Genetics. 16, p. 40

    Research output: Contribution to journalJournal articleResearchpeer-review

  8. Published

    Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care

    Eggermann, T., Netchine, I., Temple, I. K., Tümer, Z., Monk, D., Mackay, D., Grønskov, K., Riccio, A., Linglart, A. & Maher, E. R., 2015, In : Clinical Epigenetics. 7, 1, p. 23

    Research output: Contribution to journalJournal articleResearchpeer-review

  9. Published

    Cornelia de Lange Syndrome

    Boyle, M. I., Jespersgaard, C., Brøndum-Nielsen, K., Bisgaard, A-M. & Tümer, Z., 2015, In : Clinical Genetics. 572, 1, p. 2015 Nov 1;572(1):130-4.

    Research output: Contribution to journalJournal articleResearchpeer-review

  10. Published

    Is It a Pathogenic ATP7A Variation and Is It Menkes Disease?

    Tümer, Z., 2015, In : Case Reports in Neurological Medicine. 2015, p. e358605

    Research output: Contribution to journalJournal articleResearchpeer-review

  11. Published

    Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity

    De Rocker, N., Vergult, S., Koolen, D., Jacobs, E., Hoischen, A., Zeesman, S., Bang, B., Béna, F., Bockaert, N., Bongers, E. M., de Ravel, T., Devriendt, K., Giglio, S., Faivre, L., Joss, S., Maas, S., Marle, N., Novara, F., Nowaczyk, M. J. M., Peeters, H., Polstra, A., Roelens, F., Rosenberg, C., Thevenon, J., Tümer, Z., Vanhauwaert, S., Varvagiannis, K., Willaert, A., Willemsen, M., Willems, M., Zuffardi, O., Coucke, P., Speleman, F., Eichler, E. E., Kleefstra, T. & Menten, B., 2015, In : Genetics In Medicine. 17, 6, p. 460-6

    Research output: Contribution to journalJournal articleResearchpeer-review

  12. Published

    Response to Dylan Mordaunt and Alisha McLauchlan

    Boyle, M. & Tümer, Z., 2015, In : Clinical Genetics. 88, 1 , p. 99–100

    Research output: Contribution to journalComment/debateResearchpeer-review

  13. 2014
  14. Published

    Aberrant expression of miR-218 and miR-204 in human mesial temporal lobe epilepsy and hippocampal sclerosis-Convergence on axonal guidance

    Kaalund, S. S., Venø, M. T., Bak, M., Møller, R. S., Laursen, H., Madsen, F., Broholm, H., Quistorff, B., Uldall, P., Tommerup, N., Kauppinen, S., Sabers, A., Fluiter, K., Møller, L. B., Nossent, A. Y., Silahtaroglu, A., Kjems, J., Aronica, E. & Tümer, Z., Dec 2014, In : Epilepsia. 55, 12, p. 2017-27 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  15. Published
  16. Published

    Intragenic deletions affecting two alternative transcripts of the IMMP2L gene in patients with Tourette syndrome

    Bertelsen, B., Melchior, L., Jensen, L. R., Groth, C., Glenthøj, B., Rizzo, R., Debes, N. M., Skov, L., Brøndum-Nielsen, K., Paschou, P., Silahtaroglu, A. & Tümer, Z., Nov 2014, In : European journal of human genetics : EJHG. 22, 11, p. 1283-9 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  17. Published

    Transient p53 suppression increases reprogramming of human fibroblasts without affecting apoptosis and DNA damage

    Rasmussen, M. A., Holst, B., Tümer, Z., Johnsen, M. G., Zhou, S., Stummann, T. C., Hyttel, P. & Clausen, C., 9 Sep 2014, In : Stem Cell Reviews. 3, 3, p. 404-13 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  18. Published
  19. Published

    Molecular Genetics of Menkes Disease

    Tümer, Z., Aug 2014, Grafisk – Københavns Universitet. 88 p.

    Research output: Book/ReportDoctoral thesisResearch

  20. Published

    Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia

    Minocherhomji, S., Hansen, C., Kim, H-G., Mang, Y., Bak, M., Guldberg, P., Papadopoulos, N., Eiberg, H., Doh, G. D., Møllgård, K., Hertz, J. M., Nielsen, J. E., Ropers, H-H., Tümer, Z., Tommerup, N., Kalscheuer, V. M. & Silahtaroglu, A., 1 Jul 2014, In : Human Molecular Genetics. 23, 23, p. 6163-6176

    Research output: Contribution to journalJournal articleResearchpeer-review

  21. Published

    Mosaicism for c.431_454dup in ARX causes a mild Partington syndrome phenotype

    Grønskov, K., Diness, B., Stahlhut, M., Zilmer, M., Tümer, Z., Bisgaard, A-M. & Brøndum-Nielsen, K., 15 Apr 2014, In : European Journal of Medical Genetics. 57, 6, p. 284-7 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  22. Published

    Microdeletions including FMR1 in three female patients with intellectual disability - further delineation of the phenotype and expression studies

    Zink, A. M., Wohlleber, E., Engels, H., Rødningen, O. K., Ravn, K., Heilmann, S., Rehnitz, J., Katzorke, N., Kraus, C., Blichfeldt, S., Hoffmann, P., Reutter, H., Brockschmidt, F. F., Kreiß-Nachtsheim, M., Vogt, P. H., Prescott, T. E., Tümer, Z. & Lee, J. A., Feb 2014, In : Molecular Syndromology. 5, 2, p. 65-75 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  23. Published

    3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder

    Thevenon, J., Callier, P., Poquet, H., Bache, I., Menten, B., Malan, V., Cavaliere, M. L., Girod, J-P., Thauvin-Robinet, C., El Chehadeh, S., Pinoit, J-M., Huet, F., Verges, B., Petit, J-M., Mosca-Boidron, A-L., Marle, N., Mugneret, F., Masurel-Paulet, A., Novelli, A., Tümer, Z., Loeys, B., Lyonnet, S. & Faivre, L., Jan 2014, In : Journal of Medical Genetics. 51, 1, p. 21-7 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  24. Published

    A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia

    Roos, L., Fang, M., Dali, C. I., Jensen, H., Christoffersen, N., Wu, B., Zhang, J., Xu, R., Harris, P. H., XU, X., Grønskov, K. & Tümer, Z., 2014, In : Clinical Genetics. 86, p. 276-81

    Research output: Contribution to journalJournal articleResearchpeer-review

  25. Published

    Oxidative Stress and Mitochondrial Defect in Neuromuscular Disorders: Source or Symptoms?

    Cornelius, N., Gregersen, N., Tümer, Z. & Olsen, R. K. J., 2014, Oxidative Stress: Causes, Role in Diseases and Biological Effects. Nova Science Publishers, Incorporated, p. 1-60

    Research output: Chapter in Book/Report/Conference proceedingBook chapterCommunication

  26. Published

    Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability

    Kashevarova, A. A., Nazarenko, L. P., Schultz-Pedersen, S., Skryabin, N. A., Salyukova, O. A., Chechetkina, N. N., Tolmacheva, E. N., Rudko, A. A., Magini, P., Graziano, C., Romeo, G., Joss, S., Tümer, Z. & Lebedev, I. N., 2014, In : Molecular Cytogenetics. 7, 1, p. 97

    Research output: Contribution to journalJournal articleResearchpeer-review

  27. Published

    X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome

    Møller, R. S., Jensen, L. R., Maas, S. M., Filmus, J., Capurro, M., Hansen, C., Marcelis, C. L. M., Ravn, K., Andrieux, J., Mathieu, M., Kirchhoff, E. M., Rødningen, O. K., de Leeuw, N., Yntema, H. G., Froyen, G., Vandewalle, J., Ballon, K., Klopocki, E., Joss, S., Tolmie, J., Knegt, A. C., Lund, A. M., Hjalgrim, H., Kuss, A. W., Tommerup, N. M., Ullmann, R., de Brouwer, A. P. M., Strømme, P., Kjærgaard, S., Tümer, Z. & Kleefstra, T., 2014, In : Human Genetics. 133, 5, p. 625-638

    Research output: Contribution to journalJournal articleResearchpeer-review

  28. 2013
  29. Published
  30. Published

    An association study between the norepinephrine transporter gene and depression

    Buttenschøn, H. N., Jacobsen, I. S., Grynderup, M., Hansen, A. M., Kolstad, H. A., Kaerlev, L., Thomsen, J. F., Nordentoft, M., Silahtaroglu, A., Tommerup, N., Tümer, Z., Krogh, J., Børglum, A. & Mors, O., Oct 2013, In : Psychiatric Genetics. 23, 5, p. 217-221 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  31. Published

    Segregation of a 4p16.3 duplication with a characteristic appearance, macrocephaly, speech delay and mild intellectual disability in a 3-generation family

    Schönewolf-Greulich, B., Ravn, K., Hamborg-Petersen, B., Brøndum-Nielsen, K. & Tümer, Z., Sep 2013, In : American Journal of Medical Genetics. Part A. 161, 9, p. 2358-62 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  32. Published
  33. Published

    An overview and update of ATP7A mutations leading to menkes disease and occipital horn syndrome

    Tümer, Z., 2013, In : Human Mutation. 34, 3, p. 417-29 13 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  34. Published

    ATCG - An Applied Theory of Clinical Genetics

    Tümer, Z., Brender McNair, J., Dennis, L. & McNair, P., 2013, The Mereon Matrix - Unity, Perspective and Paradox. Dennis, L., Brender McNair, J. & Kauffman, L. H. (eds.). 1. ed. Elsevier Science, p. 347-516

    Research output: Chapter in Book/Report/Conference proceedingBook chapterCommunication

  35. Published

    Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with Autism Spectrum Disorders

    Gilling, M., Rasmussen, H. B., Calloe, K., Sequeira, A. F., Baretto, M., Oliveira, G., Almeida, J., Lauritsen, M. B., Ullmann, R., Boonen, S. E., Brondum-Nielsen, K., Kalscheuer, V. M., Tümer, Z., Vicente, A. M., Schmitt, N. & Tommerup, N., 2013, In : Frontiers in Genetics. 4, p. 54

    Research output: Contribution to journalJournal articleResearchpeer-review

  36. Published
  37. Published
  38. Published

    SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations

    Rendtorff, N., Schrijver, I., Lodahl, M., Rodriguez-Paris, J., Johnsen, T., Hansén, E., Nickelsen, L., Tümer, Z., Fagerheim, T., Wetke, R. & Tranebjaerg, L., 2013, In : The Application of Clinical Genetics. 84, 4, p. 388-391

    Research output: Contribution to journalJournal articleResearchpeer-review

  39. Published

    Transient Neonatal Diabetes, ZFP57, and Hypomethylation of Multiple Imprinted Loci: A detailed follow-up

    Boonen, S. E., Mackay, D. J. G., Hahnemann, J. M. D., Docherty, L., Grønskov, K., Lehmann, A., Larsen, L. G., Haemers, A. P., Kockaerts, Y., Dooms, L., Vu, D. C., Ngoc, C. T. B., Nguyen, P. B., Kordonouri, O., Sundberg, F., Dayanikli, P., Puthi, V., Acerini, C., Massoud, A. F., Tümer, Z. & Temple, I. K., 2013, In : Diabetes Care. 36, 3, p. 505-12 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  40. 2012
  41. Published

    Advanced microtechnologies for detection of chromosome abnormalities by fluorescent in situ hybridization

    Kwasny, D., Vedarethinam, I., Shah, P. J., Dimaki, M., Silahtaroglu, A., Tumer, Z. & Svendsen, W. E., 2012, In : Biomedical Microdevices. 14, 3, p. 453-60 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  42. Published

    Centrifugally driven microfluidic disc for detection of chromosomal translocations

    Brøgger, A. L., Kwasny, D., Bosco, F., Silahtaroglu, A., Tümer, Z., Boisen, A. & Svendsen, W. E., 2012, In : Lab on a Chip. 12, 22, p. 4628-34 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  43. Published

    Clinical expression of Menkes disease in females with normal karyotype

    Møller, L. B., Lenartowicz, M., Zabot, M-T., Josiane, A., Burglen, L., Bennett, C., Riconda, D., Fisher, R., Janssens, S., Mohammed, S., Ausems, M., Tümer, Z., Horn, N. & Jensen, T., 2012, In : Orphanet Journal of Rare Diseases. 7, p. 6

    Research output: Contribution to journalJournal articleResearchpeer-review

  44. Published

    De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature

    Becker, K., Di Donato, N., Holder-Espinasse, M., Andrieux, J., Cuisset, J-M., Vallée, L., Plessis, G., Jean, N., Delobel, B., Thuresson, A-C., Annerén, G., Ravn, K., Tümer, Z., Tinschert, S., Schrock, E., Jønch, A. E. & Hackmann, K., 2012, In : European Journal of Medical Genetics. 55, 8-9, p. 490-7 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  45. Published

    Deletion of CUL4B leads to concordant phenotype in a monozygotic twin pair

    Ravn, K., Lindquist, S. G., Brøndum-Nielsen, K., Dahm, T. L. & Tümer, Z., 2012, In : Clinical Genetics. 82, 3, p. 292-4 3 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  46. Published

    Den genetiske baggrund for øjenmisdannelserne mikroftalmi og anoftalmi

    Roos, L. S., Grønskov, K., Jensen, H. & Tümer, Z., 2012, In : Ugeskrift for Laeger. 174, 11, p. 713-6 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  47. Published

    Genetikken bag Gilles de laTourettes syndrom

    Bertelsen, B., Melchior, L., Debes, N. M., Skov, L., Brøndum-Nielsen, K. & Tümer, Z., 2012, In : Ugeskrift for Laeger. 174, 8, p. 484-487 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  48. Published

    No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome

    Boonen, S. E., Hahnemann, J. M. D., Mackay, D., Tommerup, N., Brøndum-Nielsen, K., Tümer, Z. & Grønskov, K., 2012, In : European Journal of Human Genetics. 20, 1, p. 119-21 3 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  49. Published

    Novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALS

    Tümer, Z., Bertelsen, B., Gredal, O., Magyari, M., Nielsen, K. C., Lucamp, Grønskov, K. & Brøndum-Nielsen, K., 2012, In : Neurobiology of Aging. 33, 1, p. 208.e1-5

    Research output: Contribution to journalJournal articleResearchpeer-review

  50. Published

    Partial duplication of 13q31.3-q34 and deletion of 13q34 associated with diaphragmatic hernia as a sole malformation in a fetus

    Jønch, A. E., Larsen, L. G., Pouplier, S., Nielsen, K., Brøndum-Nielsen, K. & Tümer, Z., 2012, In : American Journal of Medical Genetics. Part A. 158A, 9, p. 2302-8 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  51. 2011
  52. Published

    High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations

    Kariminejad, R., Lind-Thomsen, A., Tümer, Z., Erdogan, F., Ropers, H. H., Tommerup, N., Ullmann, R. & Møller, R. S., Dec 2011, In : Human Mutation. 32, 12, p. 1427-35 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  53. Published

    Complex distal 10q rearrangement in a girl with mild intellectual disability: follow up of the patient and review of the literature of non-acrocentric satellited chromosomes

    Sarri, C., Douzgou, S., Gyftodimou, Y., Tümer, Z., Ravn, K., Pasparaki, A., Sarafidou, T., Kontos, H., Kokotas, H., Karadima, G., Grigoriadou, M., Pandelia, E., Theodorou, V., Moschonas, N. K. & Petersen, M. B., Nov 2011, In : American Journal of Medical Genetics. Part A. 155A, 11, p. 2841-54 14 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  54. Published

    Clinical utility gene card for Menkes disease

    Tümer, Z. & Klomp, L., Oct 2011, In : European journal of human genetics : EJHG. 19, 10

    Research output: Contribution to journalJournal articleResearchpeer-review

  55. Published

    Three new loci for determining x chromosome inactivation patterns

    Bertelsen, B., Tümer, Z. & Ravn, K., Sep 2011, In : The Journal of molecular diagnostics : JMD. 13, 5, p. 537-40 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

ID: 36882422