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Rigshospitalet - a part of Copenhagen University Hospital
  1. 2020
  2. Published

    Chromothripsis and DNA Repair Disorders

    Nazaryan-Petersen, L., Bjerregaard, V. A., Nielsen, F. C., Tommerup, N. & Tümer, Z., 25 Feb 2020, In: Journal of Clinical Medicine. 9, 3, p. 613

    Research output: Contribution to journalReviewpeer-review

  3. 2019
  4. 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., 1 Aug 2019, In: European journal of human genetics : EJHG. 27, 8, p. 1296-1303 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Published

    Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome

    Nazaryan-Petersen, L., Oliveira, I. R., Mehrjouy, M. M., Mendez, J. M. M., Bak, M., Bugge, M., Kalscheuer, V. M., Bache, I., Hancks, D. C. & Tommerup, N., Aug 2019, In: Human Mutation. 40, 8, p. 1057-1062 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. 2018
  7. 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

  8. 2017
  9. Published
  10. 2016
  11. Published

    Germline Chromothripsis Driven by L1-Mediated Retrotransposition and Alu/Alu Homologous Recombination

    Nazaryan-Petersen, L., Bertelsen, B., Bak, M., Jønson, L., Tommerup, N., Hancks, D. C. & Tümer, Z., Apr 2016, In: Human Mutation. 37, 4, p. 385-95 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  12. Published

    A germline chromothripsis event stably segregating in 11 individuals through three generations

    Bertelsen, B., Nazaryan, L., Sun, W., Mehrjouy, M. M., Xie, G., Chen, W., Hjermind, L. E., Taschner, P. E. M. & Tümer, Z., 2016, In: Genetics in medicine : official journal of the American College of Medical Genetics. 18, p. 494–500

    Research output: Contribution to journalJournal articleResearchpeer-review

  13. 2015
  14. Published
  15. Published

    Association study between CDH2 and Gilles de la Tourette syndrome in a Danish cohort

    Nazaryan, L., Bertelsen, B., Padmanabhuni, S. S., Debes, N. M., LuCamp, Have, C. T. & Tümer, Z., 30 Aug 2015, In: Psychiatry Research. 228, 3, p. 974-5 2 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  16. Published

    A mosaic small supernumerary marker chromosome 17 in a patient with Tourette syndrome, ADHD and intellectual disability: A case story and review of the literature

    Cornelius, N., Bertelsen, B., Melchior, L., Nazaryan, L., Debes, N. M., Groth, C., Skov, L. & Tümer, Z., 30 Jul 2015, In: Psychiatry Research. 228, 1, p. 179-81 3 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  17. 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

ID: 59423778