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The Capital Region of Denmark - a part of Copenhagen University Hospital
  1. 2020
  2. E-pub ahead of print

    Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome

    Karstensen, H. G., Rendtorff, N. D., Hindbæk, L. S., Colombo, R., Stein, A., Birkebæk, N. H., Hartmann-Petersen, R., Lindorff-Larsen, K., Højland, A. T., Petersen, M. B. & Tranebjærg, L., 2020, In : European Journal of Medical Genetics. p. 103733

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. 2019
  4. Published

    Functional Assessment of Variants Associated with Wolfram Syndrome

    Riachi, M., Yilmaz, S., Kurnaz, E., Aycan, Z., Çetinkaya, S., Tranebjærg, L., Rendtorff, N. D., Bitner-Glindzicz, M., Bockenhauer, D. & Hussain, K., 15 Nov 2019, In : Human Molecular Genetics. 28, 22, p. 3815-3824

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Published

    Association of SLC26A4 mutations, morphology, and hearing in pendred syndrome and NSEVA

    Mey, K., Muhamad, A. A., Tranebjaerg, L., Rendtorff, N. D., Rasmussen, S. H., Bille, M. & Cayé-Thomasen, P., Nov 2019, In : The Laryngoscope. 129, 11, p. 2574-2579 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. Published

    Oral therapy for riboflavin transporter deficiency - What is the regimen of choice?

    Gorcenco, S., Vaz, F. M., Tracewska-Siemiatkowska, A., Tranebjærg, L., Cremers, F. P. M., Ygland, E., Kicsi, J., Rendtorff, N. D., Möller, C., Kjellström, U., Andréasson, S. & Puschmann, A., Apr 2019, In : Parkinsonism & related disorders. 61, p. 245-247 3 p.

    Research output: Contribution to journalLetterResearchpeer-review

  7. 2018
  8. Published

    The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management

    Tranebjærg, L., Strenzke, N., Lindholm, S., Rendtorff, N. D., Poulsen, H., Khandelia, H., Kopec, W., Lyngbye, T. J. B., Hamel, C., Delettre, C., Bocquet, B., Bille, M., Owen, H. H., Bek, T., Jensen, H., Østergaard, K., Möller, C., Luxon, L., Carr, L., Wilson, L., Rajput, K., Sirimanna, T., Harrop-Griffiths, K., Rahman, S., Vona, B., Doll, J., Haaf, T., Bartsch, O., Rosewich, H., Moser, T. & Bitner-Glindzicz, M., Feb 2018, In : Human Genetics. 137, 2, p. 111-127 17 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  9. Published

    Correction to: The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management

    Tranebjærg, L., Strenzke, N., Lindholm, S., Rendtorff, N. D., Poulsen, H., Khandelia, H., Kopec, W., Lyngbye, T. J. B., Hamel, C., Delettre, C., Bocquet, B., Bille, M., Owen, H. H., Bek, T., Jensen, H., Østergaard, K., Möller, C., Luxon, L., Carr, L., Wilson, L., Rajput, K., Sirimanna, T., Harrop-Griffiths, K., Rahman, S., Vona, B., Doll, J., Haaf, T., Bartsch, O., Rosewich, H., Moser, T. & Bitner-Glindzicz, M., 2018

    Research output: Other contributionResearch

  10. 2017
  11. Published

    An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS

    Tracewska-Siemiątkowska, A., Haer-Wigman, L., Bosch, D. G. M., Nickerson, D., Bamshad, M. J., van de Vorst, M., Rendtorff, N. D., Möller, C., Kjellström, U., Andréasson, S., Cremers, F. P. M., Tranebjærg, L. & University of Washington Center for Mendelian Genomics, 11 Dec 2017, In : Genes. 8, 12, p. E381

    Research output: Contribution to journalJournal articleResearchpeer-review

  12. Published

    A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct

    Chattaraj, P., Munjal, T., Honda, K., Rendtorff, N. D., Ratay, J. S., Muskett, J. A., Risso, D. S., Roux, I., Gertz, E. M., Schäffer, A. A., Friedman, T. B., Morell, R. J., Tranebjærg, L. & Griffith, A. J., Oct 2017, In : Journal of Medical Genetics. 54, 10, p. 665-673 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  13. Published

    Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy

    Liu, Y. P., Bosch, D. G. M., Siemiatkowska, A. M., Rendtorff, N. D., Boonstra, F. N., Möller, C., Tranebjærg, L., Katsanis, N. & Cremers, F. P. M., 2017, In : Ophthalmic Genetics. 38, 2, p. 127-132 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  14. 2016
  15. Published

    Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC

    Tingaud-Sequeira, A., Raldúa, D., Lavie, J., Mathieu, G., Bordier, M., Knoll-Gellida, A., Rambeau, P., Coupry, I., André, M., Malm, E., Möller, C., Andreasson, S., Rendtorff, N. D., Tranebjærg, L., Koenig, M., Lacombe, D., Goizet, C. & Babin, P. J., 23 Nov 2016, In : Neurobiology of Disease. 98, p. 36-51 16 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  16. Published

    Usher syndrome in Denmark: mutation spectrum and some clinical observations

    Dad, S., Rendtorff, N. D., Tranebjærg, L., Grønskov, K., Karstensen, H. G., Brox, V., Nilssen, Ø., Roux, A-F., Rosenberg, T., Jensen, H. & Møller, L. B., Sep 2016, In : Molecular Genetics & Genomic Medicine. 4, 5, p. 527-539 13 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  17. Published

    Phenotypic subregions within the split-hand/foot malformation 1 locus

    Rasmussen, M. B., Kreiborg, S., Jensen, P., Bak, M., Mang, Y., Lodahl, M., Budtz-Jørgensen, E., Tommerup, N., Tranebjærg, L. & Rendtorff, N. D., Mar 2016, In : Human Genetics. 135, 3, p. 345-57 13 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  18. 2015
  19. Published

    Partial USH2A deletions contribute to Usher syndrome in Denmark

    Dad, S., Rendtorff, N. D., Kann, E., Albrechtsen, A., Mehrjouy, M. M., Bak, M., Tommerup, N., Tranebjærg, L., Rosenberg, T., Jensen, H. & Møller, L. B., Dec 2015

    Research output: Other contributionResearch

  20. Published

    Partial USH2A deletions contribute to Usher syndrome in Denmark

    Dad, S., Rendtorff, N. D., Kann, E., Albrechtsen, A., Mehrjouy, M. M., Bak, M., Tommerup, N., Tranebjærg, L., Rosenberg, T., Jensen, H. & Møller, L. B., Dec 2015, 6 p.

    Research output: Other contributionResearch

  21. Published

    A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment

    Nyegaard, M., Rendtorff, N. D., Nielsen, M. S., Corydon, T. J., Demontis, D., Starnawska, A., Hedemand, A., Buniello, A., Niola, F., Overgaard, M. T., Leal, S. M., Ahmad, W., Wikman, F., Petersen, K., Crüger, D. G., Oostrik, J., Kremer, H., Tommerup, N., Frödin, M., Steel, K. P., Tranebjærg, L. & Børglum, A. D., Jul 2015, In : P L o S Genetics. 11, 7, p. e1005386

    Research output: Contribution to journalJournal articleResearchpeer-review

  22. Published

    Phenotypic variability in a seven-generation Swedish family segregating autosomal dominant hearing impairment due to a novel EYA4 frameshift mutation

    Frykholm, C., Klar, J., Arnesson, H., Rehnman, A-C., Lodahl, M., Wedén, U., Dahl, N., Tranebjærg, L. & Rendtorff, N. D., 11 Feb 2015, In : Gene. 563, 1, p. 10-6

    Research output: Contribution to journalJournal articleResearchpeer-review

  23. 2005
  24. Published

    Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations

    Rendtorff, N. D., Bjerregaard, B., Frödin, M., Kjaergaard, S., Hove, H., Skovby, F., Brøndum-Nielsen, K., Schwartz, M. & Danish Tuberous Sclerosis Group, Oct 2005, In : Human Mutation. 26, 4, p. 374-83 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

ID: 45848531