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Rigshospitalet - a part of Copenhagen University Hospital
  1. 2022
  2. E-pub ahead of print
  3. Published

    DNA methylation episignature in Gabriele-de Vries syndrome

    Cherik, F., Reilly, J., Kerkhof, J., Levy, M., McConkey, H., Barat-Houari, M., Butler, K. M., Coubes, C., Lee, J. A., Le Guyader, G., Louie, R. J., Patterson, W. G., Tedder, M. L., Bak, M., Hammer, T. B., Craigen, W., Démurger, F., Dubourg, C., Fradin, M., Franciskovich, R. & 14 others, Frengen, E., Friedman, J., Palares, N. R., Iascone, M., Misceo, D., Monin, P., Odent, S., Philippe, C., Rouxel, F., Saletti, V., Strømme, P., Thulin, P. C., Sadikovic, B. & Genevieve, D., Apr 2022, In: Genetics in medicine : official journal of the American College of Medical Genetics. 24, 4, p. 905-914 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. 2021
  5. Published

    Case report: ‘AARS2 leukodystrophy’

    Axelsen, T. M., Vammen, T. L., Bak, M., Pourhadi, N., Stenør, C. M. & Grønborg, S., Sep 2021, In: Molecular Genetics and Metabolism Reports. 28, 100782.

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. Published

    Correction: Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease (PLoS Genetics (2021) 17:7 (e1009679) DOI: 10.1371/journal.pgen.1009679)

    Audain, E., Wilsdon, A., Breckpot, J., Izarzugaza, J. M. G., Fitzgerald, T. W., Kahlert, A-K., Sifrim, A., Wünnemann, F., Perez-Riverol, Y., Abdul-Khaliq, H., Bak, M., Bassett, A. S., Benson, D. W., Berger, F., Daehnert, I., Devriendt, K., Dittrich, S., Daubeney, P. E., Garg, V., Hackmann, K. & 30 others, Hoff, K., Hofmann, P., Dombrowsky, G., Pickardt, T., Bauer, U., Keavney, B. D., Klaassen, S., Kramer, H-H., Marshall, C. R., Milewicz, D. M., Lemaire, S., Coselli, J. S., Mitchell, M. E., Tomita-Mitchell, A., Prakash, S. K., Stamm, K., Stewart, A. F. R., Silversides, C. K., Siebert, R., Stiller, B., Rosenfeld, J. A., Vater, I., Postma, A. V., Caliebe, A., Brook, J. D., Andelfinger, G., Hurles, M. E., Thienpont, B., Larsen, L. A. & Hitz, M-P., Sep 2021, 1 p.

    Research output: Other contributionCommunication

  7. Published

    Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease

    Audain, E., Wilsdon, A., Breckpot, J., Izarzugaza, J. M. G., Fitzgerald, T. W., Kahlert, A-K., Sifrim, A., Wünnemann, F., Perez-Riverol, Y., Abdul-Khaliq, H., Bak, M., Bassett, A. S., Benson, D. W., Berger, F., Daehnert, I., Devriendt, K., Dittrich, S., Daubeney, P. E., Garg, V., Hackmann, K. & 30 others, Hoff, K., Hofmann, P., Dombrowsky, G., Pickardt, T., Bauer, U., Keavney, B. D., Klaassen, S., Kramer, H-H., Marshall, C. R., Milewicz, D. M., Lemaire, S., Coselli, J. S., Mitchell, M. E., Tomita-Mitchell, A., Prakash, S. K., Stamm, K., Stewart, A. F. R., Silversides, C. K., Siebert, R., Stiller, B., Rosenfeld, J. A., Vater, I., Postma, A. V., Caliebe, A., Brook, J. D., Andelfinger, G., Hurles, M. E., Thienpont, B., Larsen, L. A. & Hitz, M-P., Jul 2021, In: P L o S Genetics. 17, 7, p. e1009679 e1009679.

    Research output: Contribution to journalJournal articleResearchpeer-review

  8. 2020
  9. Published

    Paroxysmal Cranial Dyskinesia and Nail-Patella Syndrome Caused by a Novel Variant in the LMX1B Gene

    Bech, S., Løkkegaard, A., Nielsen, T. T., Nørremølle, A., Grønborg, S., Hasholt, L., Steffensen, G. K., Graehn, G., Olesen, J. H., Tommerup, N., Mang, Y., Bak, M., Nielsen, J. E., Eiberg, H. & Hjermind, L. E., Dec 2020, In: Movement disorders : official journal of the Movement Disorder Society. 35, 12, p. 2343-2347 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  10. Published

    Mitochondrial dysfunction induced by variation in the non-coding genome - A proposed workflow to improve diagnostics

    du Mee, D. J. M., Bak, M., Østergaard, E. & Rasmussen, L. J., Jul 2020, In: Mitochondrion. 53, p. 255-259 5 p.

    Research output: Contribution to journalLetterResearchpeer-review

  11. 2019
  12. 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

  13. 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

  14. Published

    A splice-site variant in the lncRNA gene RP1-140A9.1 cosegregates in the large Volkmann cataract family

    Eiberg, H., Mikkelsen, A. F., Bak, M., Tommerup, N., Lund, A. M., Wenzel, A., Sabarinathan, R., Gorodkin, J., Bang-Berthelsen, C. H. & Hansen, L., 2019, In: Molecular Vision. 25, p. 1-11 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  15. Published

    Diagnostic pitfalls in vitamin B6-dependent epilepsy caused by mutations in the PLPBP gene

    Jensen, K. V., Frid, M., Stödberg, T., Barbaro, M., Wedell, A., Christensen, M., Bak, M., Ek, J., Madsen, C. G., Darin, N. & Grønborg, S., 2019, In: JIMD Reports. 50, 1, p. 1-8 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  16. 2018
  17. 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. & 5 others, 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

ID: 56076247