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The Capital Region of Denmark - a part of Copenhagen University Hospital
  1. 2018
  2. Published

    De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

    DDD Study, Basilicata, M. F., Bruel, A-L., Semplicio, G., Valsecchi, C. I. K., Aktaş, T., Duffourd, Y., Rumpf, T., Morton, J., Bache, I., Szymanski, W. G., Gilissen, C., Vanakker, O., Õunap, K., Mittler, G., van der Burgt, I., El Chehadeh, S., Cho, M. T., Pfundt, R., Tan, T. Y., Kirchhoff, M., Menten, B., Vergult, S., Lindstrom, K., Reis, A., Johnson, D. S., Fryer, A., McKay, V., Fisher, R. B., Thauvin-Robinet, C., Francis, D., Roscioli, T., Pajusalu, S., Radtke, K., Ganesh, J., Brunner, H. G., Wilson, M., Faivre, L., Kalscheuer, V. M., Thevenon, J. & Akhtar, A., Oct 2018, In : Nature Genetics. 50, 10, p. 1442-1451 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Published
  4. Published

    Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes

    Halgren, C., Nielsen, N. M., Nazaryan-Petersen, L., Silahtaroglu, A., Collins, R. L., Lowther, C., Kjaergaard, S., Frisch, M., Kirchhoff, M., Brøndum-Nielsen, K., Lind-Thomsen, A., Mang, Y., El-Schich, Z., Boring, C. A., Mehrjouy, M. M., Jensen, P. K. A., Fagerberg, C., Krogh, L. N., Hansen, J., Bryndorf, T., Hansen, C., Talkowski, M. E., Bak, M., Tommerup, N. & Bache, I., 7 Jun 2018, In : American Journal of Human Genetics. 102, 6, p. 1090-1103 14 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. 2017
  6. Published

    Familial craniofacial abnormality and polymicrogyria associated with a microdeletion affecting the NFIA gene

    Bayat, A., Kirchhoff, M., Madsen, C. G., Roos, L. & Kreiborg, S., 1 Jun 2017, In : Clinical Dysmorphology. 26, 3, p. 148-153

    Research output: Contribution to journalJournal articleResearchpeer-review

  7. 2016
  8. Published
  9. 2015
  10. Published
  11. Published

    Familial craniosynostosis associated with a microdeletion involving the NFIA gene

    Nyboe, D., Kreiborg, S., Kirchhoff, E. M. & Hove, H. B., 24 Feb 2015, In : Clinical Dysmorphology. 24, 3, p. 109-12

    Research output: Contribution to journalJournal articleResearchpeer-review

  12. 2014
  13. Published

    A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes

    Bartholdi, D., Stray-Pedersen, A., Azzarello-Burri, S., Kibaek, M., Kirchhoff, E. M., Oneda, B., Rødningen, O., Schmitt-Mechelke, T., Rauch, A. & Kjaergaard, S., May 2014, In : American Journal of Medical Genetics. Part A. 164A, 5, p. 1277-83 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  14. Published
  15. 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

  16. 2013
  17. Published
  18. Published

    CD4+ CD31+ recent thymic emigrants in CHD7 haploinsufficiency (CHARGE syndrome): a case

    Assing, K., Nielsen, C., Kirchhoff, E. M., Madsen, H. O., Ryder, L. P. & Fisker, N., Sep 2013, In : Human Immunology. 74, 9, p. 1047-50 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  19. Published
  20. Published

    Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 gene

    Avila, M., Kirchhoff, E. M., Marle, N., Hove, H. D., Chouchane, M., Thauvin-Robinet, C., Masurel, A., Mosca-Boidron, A-L., Callier, P., Mugneret, F., Kjaergaard, S. & Faivre, L., Jul 2013, In : American Journal of Medical Genetics. Part A. 161A, 7, p. 1594-8 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  21. Published

    Heart defects and other features of the 22q11 distal deletion syndrome

    Fagerberg, C. R., Graakjaer, J., Heinl, U. D., Ousager, L. B., Dreyer, I., Kirchhoff, E. M., Rasmussen, A., Lautrup, C. K., Birkebaek, N. & Sorensen, K., 2013, In : European Journal of Medical Genetics. 56, 2, p. 98-107 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  22. 2012
  23. Published

    Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B

    Halgren, C., Kjaergaard, S., Bak, M., Hansen, C., El-Schich, Z., Anderson, C. M., Henriksen, K. F., Hjalgrim, H., Kirchhoff, E. M., Bijlsma, E. K., Nielsen, M., den Hollander, N. S., Ruivenkamp, C. A. L., Isidor, B., Le Caignec, C., Zannolli, R., Mucciolo, M., Renieri, A., Mari, F., Anderlid, B-M., Andrieux, J., Dieux, A., Tommerup, N. & Bache, I., 2012, In : Clinical Genetics. 82, 3, p. 248-55 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  24. Published

    Duplication of 7q36.3 encompassing the Sonic Hedgehog (SHH) gene is associated with congenital muscular hypertrophy

    Kroeldrup, L., Kjaergaard, S., Kirchhoff, E. M., Kock, K. F., Brasch-Andersen, C., Kibaek, M. & Ousager, L. B., 2012, In : European Journal of Medical Genetics. 55, 10, p. 557-60 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  25. Published

    Fetal ventriculomegaly due to familial submicroscopic terminal 6q deletions

    Wadt, K., Jensen, L. N., Bjerglund, L., Lundstrøm, M. S., Kirchhoff, E. M. & Kjaergaard, S., 2012, In : Prenatal Diagnosis. 32, 12, p. 1212-1217 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  26. Published

    Microdeletion in distal 17p13.1: a recognizable phenotype with microcephaly, distinctive facial features, and intellectual disability

    Zeesman, S., Kjaergaard, S., Hove, H. B., Kirchhoff, E. M., Stevens, J. M. & Nowaczyk, M. J. M., 2012, In : American Journal of Medical Genetics. Part A. 158A, 8, p. 1832-6 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  27. Published

    Screening of congenital heart disease patients using multiplex ligation-dependent probe amplification: early diagnosis of syndromic patients

    Sørensen, K. M., El-Segaier, M., Fernlund, E., Errami, A., Bouvagnet, P., Nehme, N., Steensberg, J., Hjortdal, V. E., Soller, M., Behjati, M., Werge, T., Kirchoff, E. M., Schouten, J., Tommerup, N., Andersen, P. S. & Larsen, L. A., 2012, In : American Journal of Medical Genetics. Part A. 158A, 4, p. 720-5 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  28. 2011
  29. Published

    Maintenance of EGFR and EGFRvIII expressions in an in vivo and in vitro model of human glioblastoma multiforme

    Stockhausen, M-T., Broholm, H., Villingshøj, M., Kirchhoff, M., Gerdes, T., Kristoffersen, K., Kosteljanetz, M., Spang-Thomsen, M. & Poulsen, H. S., 1 Jul 2011, In : Experimental Cell Research. 317, 11, p. 1513-26 14 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  30. Published

    Clinical and molecular characterization of two patients with overlapping de novo microdeletions in 2p14-p15 and mild mental retardation

    Wohlleber, E., Kirchhoff, E. M., Zink, A. M., Kreiss-Nachtsheim, M., Küchler, A., Jepsen, B., Kjaergaard, S. & Engels, H., 2011, In : European Journal of Medical Genetics. 54, 1, p. 67-72 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  31. Published
  32. Published

    Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3

    Hurst, J. A., Jenkins, D., Vasudevan, P. C., Kirchhoff, E. M., Skovby, F., Rieubland, C., Gallati, S., Rittinger, O., Kroisel, P. M., Johnson, D., Biesecker, L. G. & Wilkie, A. O. M., 2011, In : European Journal of Human Genetics. 19, 7, p. 757-62 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  33. 2010
  34. Published

    Diagnostic yield by supplementing prenatal metaphase karyotyping with MLPA for microdeletion syndromes and subtelomere imbalances

    Kjaergaard, S., Sundberg, K., Jørgensen, F. S., Rohde, M. D., Lind, A. M., Gerdes, T., Tabor, A. & Kirchhoff, M., 1 Oct 2010, In : Prenatal Diagnosis. 30, 10, p. 995-9 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  35. Published

    Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11

    Tzschach, A., Bisgaard, A-M., Kirchhoff, M., Graul-Neumann, L. M., Neitzel, H., Page, S., Ahmed, A., Müller, I., Erdogan, F., Ropers, H-H., Kalscheuer, V. M. & Ullmann, R., 1 Mar 2010, In : European Journal of Human Genetics. 18, 3, p. 291-5 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  36. Published

    Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation

    Lugtenberg, D., Zangrande-Vieira, L., Kirchhoff, M., Whibley, A. C., Oudakker, A. R., Kjaergaard, S., Vianna-Morgante, A. M., Kleefstra, T., Ruiter, M., Jehee, F. S., Ullmann, R., Schwartz, C. E., Stratton, M., Raymond, F. L., Veltman, J. A., Vrijenhoek, T., Pfundt, R., Schuurs-Hoeijmakers, J. H. M., Hehir-Kwa, J. Y., Froyen, G., Chelly, J., Ropers, H. H., Moraine, C., Gècz, J., Knijnenburg, J., Kant, S. G., Hamel, B. C. J., Rosenberg, C., van Bokhoven, H. & de Brouwer, A. P. M., 1 Mar 2010, In : American Journal of Medical Genetics. Part A. 152A, 3, p. 638-45 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  37. 2008
  38. Published
  39. 2004
  40. Published

ID: 36824092