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The Capital Region of Denmark - a part of Copenhagen University Hospital
  1. 2019
  2. Published

    Haploinsufficiency of ARHGAP42 is associated with hypertension

    Fjorder, A. S., Rasmussen, M. B., Mehrjouy, M. M., Nazaryan-Petersen, L., Hansen, C., Bak, M., Grarup, N., Nørremølle, A., Larsen, L. A., Vestergaard, H., Hansen, T., Tommerup, N. & Bache, I., Aug 2019, In : European journal of human genetics : EJHG. 27, 8, p. 1296-1303 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. 2018
  4. 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

  5. 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

  6. 2017
  7. Published

    von Hippel-Lindau development in children and adolescents

    Launbjerg, K., Bache, I., Galanakis, M., Bisgaard, M. L. & Binderup, M. L. M., Sep 2017, In : American Journal of Medical Genetics, Part A. 173, 9, p. 2381-2394 14 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  8. 2016
  9. Published

    Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy

    Rudolf, G., Lesca, G., Mehrjouy, M. M., Labalme, A., Salmi, M., Bache, I., Bruneau, N., Pendziwiat, M., Fluss, J., de Bellescize, J., Scholly, J., Møller, R. S., Craiu, D., Tommerup, N., Valenti-Hirsch, M. P., Schluth-Bolard, C., Sloan-Béna, F., Helbig, K. L., Weckhuysen, S., Edery, P., Coulbaut, S., Abbas, M., Scheffer, I. E., Tang, S., Myers, C. T., Stamberger, H., Carvill, G. L., Shinde, D. N., Mefford, H. C., Neagu, E., Huether, R., Lu, H-M., Dica, A., Cohen, J. S., Iliescu, C., Pomeran, C., Rubenstein, J., Helbig, I., Sanlaville, D., Hirsch, E. & Szepetowski, P., Dec 2016, In : European journal of human genetics : EJHG. 24, 12, p. 1761-1770 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  10. Published

    Rare novel variants in the ZIC3 gene cause X-linked heterotaxy

    Paulussen, A. D. C., Steyls, A., Vanoevelen, J., van Tienen, F. H., Krapels, I. P. C., Claes, G. R., Chocron, S., Velter, C., Tan-Sindhunata, G. M., Lundin, C., Valenzuela, I., Nagy, B., Bache, I., Maroun, L. L., Avela, K., Brunner, H. G., Smeets, H. J. M., Bakkers, J. & van den Wijngaard, A., Dec 2016, In : European journal of human genetics : EJHG. 24, 12, p. 1783-1791 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  11. Published

    17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature

    Rasmussen, M., Vestergaard, E. M., Graakjaer, J., Petkov, Y., Bache, I., Fagerberg, C., Kibaek, M., Svaneby, D., Petersen, O. B., Brasch-Andersen, C. & Sunde, L., Nov 2016, In : American Journal of Medical Genetics, Part A. 170, 11, p. 2934-2942 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  12. Published

    Simulation based virtual learning environment in medical genetics counseling: an example of bridging the gap between theory and practice in medical education

    Makransky, G., Bonde, M. T., Wulff, J. S. G., Wandall, J., Hood, M., Creed, P. A., Bache, I., Silahtaroglu, A. & Nørremølle, A., 25 Mar 2016, In : BMC Medical Education. 16, p. 98

    Research output: Contribution to journalJournal articleResearchpeer-review

  13. Published
  14. 2012
  15. Published

    Haploinsufficiency of CELF4 at 18q12.2 is associated with developmental and behavioral disorders, seizures, eye manifestations, and obesity

    Halgren, C., Bache, I., Bak, M., Myatt, M. W., Anderson, C. M., Brøndum-Nielsen, K. & Tommerup, N., 2012, In : European Journal of Human Genetics. 20, 12, p. 1315-9 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  16. 2011
  17. Published

    Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects

    Cingöz, S., Bache, I., Bjerglund, L., Ropers, H-H., Tommerup, N., Jensen, H., Brøndum-Nielsen, K. & Tümer, Z., Jan 2011, In : American Journal of Medical Genetics. Part A. 155A, 1, p. 203-6 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  18. 2010
  19. Published

    Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features

    Sehested, L. T., Møller, R. S., Bache, I., Andersen, N. B., Ullmann, R., Tommerup, N. & Tümer, Z., 1 Dec 2010, In : American Journal of Medical Genetics. Part A. 152A, 12, p. 3115-9 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

ID: 49591387