Research output per year
Research output per year
Personal profile
Expertises
Clinical genetics, especially hereditary hearing impairment and dual sensory impairment (deaf-blindness.
Main research areas
Genetics of deafness and hearing impairment, dual sensory impairment (deaf-blindness); Ethics of clinical genetics and advanced sequencing methods (next generation sequencing)
Current research
As above
Potential conflicts of interest
none
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Dive into the research topics where Lisbeth Tranebjærg is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction
Reurink, J., Weisschuh, N., Garanto, A., Dockery, A., van den Born, L. I., Fajardy, I., Haer-Wigman, L., Kohl, S., Wissinger, B., Farrar, G. J., Ben-Yosef, T., Pfiffner, F. K., Berger, W., Weener, M. E., Dudakova, L., Liskova, P., Sharon, D., Salameh, M., Offenheim, A., Heon, E., & 30 others, 13 Apr 2023, In: HGG advances. 4, 2, 100181.Research output: Contribution to journal › Journal article › Research › peer-review
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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, Apr 2022, In: Human Genetics. 141, 3-4, p. 965-979 15 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation
McTiernan, N., Tranebjærg, L., Bjørheim, A. S., Hogue, J. S., Wilson, W. G., Schmidt, B., Boerrigter, M. M., Nybo, M. L., Smeland, M. F., Tümer, Z. & Arnesen, T., Aug 2022, In: Human Genetics. 141, 8, p. 1355-1369 15 p.Research output: Contribution to journal › Journal article › Research › peer-review
1 Citation (Scopus) -
Congenital Nonprofound Bilateral Sensorineural Hearing Loss in Children: Comprehensive Characterization of Auditory Function and Hearing Aid Benefit
Berninger, E., Drott, M., Romanitan, M., Tranebjærg, L. & Hellström, S., 7 Oct 2022, In: Audiology research. 12, 5, p. 539-563 25 p.Research output: Contribution to journal › Journal article › Research › peer-review
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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, N., Nazaryan-Petersen, L., Kunst, H., Wong, M., Joss, S., Carelli, V. & Tranebjærg, L., 2 Sep 2022, In: Scientific Reports. 12, 1, 14959.Research output: Contribution to journal › Journal article › Research › peer-review