Lisbeth Tranebjærg

Lisbeth Tranebjærg

Professor emeritus.

Member of:

  • Clinical Genetics


Publication year:
All
1 - 6 out of 6Page size: 10
  1. 2022
  2. Published

    A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene

    Abdelfatah, N., Mostafa, A. A., French, C. R., Doucette, L. P., Penney, C., Lucas, M. B., Griffin, A., Booth, V., Rowley, C., Besaw, J. E., Tranebjærg, L., Rendtorff, N. D., Hodgkinson, K. A., Little, L. A., Agrawal, S., Parnes, L., Batten, T., Moore, S., Hu, P., Pater, J. A. & 8 others, Houston, J., Galutira, D., Benteau, T., MacDonald, C., French, D., O’Rielly, D. D., Stanton, S. G. & Young, T. L., 2022, In: Human Genetics. 141, p. 965–979

    Research output: Contribution to journal › Journal article › Research › peer-review

  3. Published

    Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation

    McTiernan, N., Tranebjærg, Lisbeth, Bjørheim, A. S., Hogue, J. S., Wilson, W. G., Schmidt, B., Boerrigter, M. M., Nybo, Maja Lind, Smeland, M. F., Tümer, Asuman Zeynep & Arnesen, T., 2022, In: Human Genetics. 141, p. 1355–1369

    Research output: Contribution to journal › Journal article › Research › peer-review

  4. Published

    Congenital Nonprofound Bilateral Sensorineural Hearing Loss in Children: Comprehensive Characterization of Auditory Function and Hearing Aid Benefit

    Berninger, E., Drott, M., Romanitan, M., Tranebjærg, Lisbeth & Hellström, S., 2022, In: Audiology Research. 12, 5, p. 539-563

    Research output: Contribution to journal › Journal article › Research › peer-review

  5. Published

    Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients

    Rendtorff, N. D., Karstensen, H. G., Lodahl, M., Tolmie, J., McWilliam, C., Bak, M., Tommerup, Niels, Nazaryan-Petersen, L., Kunst, H., Wong, M., Joss, S., Carelli, V. & Tranebjærg, Lisbeth, 2022, In: Scientific Reports. 12, 14959.

    Research output: Contribution to journal › Journal article › Research › peer-review

  6. Published

    Mutations in BCOR, a co-repressor of CRX/OTX2, are associated with early-onset retinal degeneration

    Langouët, M., Jolicoeur, C., Javed, A., Mattar, P., Gearhart, M. D., Daiger, S. P., Bertelsen, M., Tranebjærg, Lisbeth, Rendtorff, N. D., Grønskov, K., Jespersgaard, C., Chen, R., Sun, Z., Li, H., Alirezaie, N., Majewski, J., Bardwell, V. J., Sui, R., Koenekoop, R. K. & Cayouette, M., 2022, In: Science Advances. 8, 36, p. eabh2868

    Research output: Contribution to journal › Journal article › Research › peer-review

  7. Published

    Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder

    Domínguez-Ruiz, M., Rodríguez-Ballesteros, M., Gandía, M., Gómez-Rosas, E., Villamar, M., Scimemi, P., Mancini, P., Rendtorff, N. D., Moreno-Pelayo, M. A., Tranebjærg, Lisbeth, Medà, C., Santarelli, R. & Del Castillo, I., 2022, In: Genes. 13, 1, 149.

    Research output: Contribution to journal › Journal article › Research › peer-review

ID: 1571395