Lisbeth Tranebjærg

Lisbeth Tranebjærg

Professor emeritus.

Member of:

  • Clinical Genetics


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  1. 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

  2. Published

    Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjogren syndrome

    Anttonen, A. K., Siintola, E., Tranebjærg, Lisbeth, Iwata, N. K., Bijlsma, E. K., Meguro, H., Ichikawa, Y., Goto, J., Kopra, O. & Lehesjoki, A. E., 2008, In: European Journal of Human Genetics. 16, 8, p. 961-969 8 p.

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

  3. Published

    Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss

    Ascari, G., Rendtorff, N. D., De Bruyne, M., De Zaeytijd, J., Van Lint, M., Bauwens, M., Van Heetvelde, M., Arno, G., Jacob, J., Creytens, D., Van Dorpe, J., Van Laethem, T., Rosseel, T., De Pooter, T., De Rijk, P., De Coster, W., Menten, B., Rey, A. D., Strazisar, M., Bertelsen, M. & 2 others, Tranebjærg, Lisbeth & De Baere, E., 2021, In: Frontiers in Cell and Developmental Biology. 9, 664317.

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

  4. Published

    Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia

    Astuti, D., Sabir, A., Fulton, P., Zatyka, M., Williams, D., Hardy, C., Milan, G., Favaretto, F., Yu-Wai-Man, P., Rohayem, J., López de Heredia, M., Hershey, T., Tranebjaerg, L., Chen, J-H., Chaussenot, A., Nunes, V., Marshall, B., McAfferty, S., Tillmann, V., Maffei, P. & 14 others, Paquis-Flucklinger, V., Geberhiwot, T., Mlynarski, W., Parkinson, K., Picard, V., Bueno, G. E., Dias, R., Arnold, A., Richens, C., Paisey, R., Urano, F., Semple, R., Sinnott, R. & Barrett, T. G., 2017, In: Human Mutation. 38, 7, p. 764-777

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

  5. Published

    Otopathology in Mohr-Tranebjaerg syndrome

    Bahmad, F., Merchant, S. N., Nadol, J. B. & Tranebjærg, Lisbeth, 2007, In: Laryngoscope. 117, 7, p. 1202-1208 6 p.

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

  6. Published

    Histopathology of nonsyndromic autosomal dominant midfrequency sensorineural hearing loss

    Bahmad, F., O'Malley, J., Tranebjærg, Lisbeth & Merchant, S. N., 2008, In: Otology & Neurotology. 29, 5, p. 601-606 5 p.

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

  7. Published

    Lessons learned from 40 novel PIGA patients and a review of the literature

    Bayat, A., Knaus, A., Pendziwiat, M., Afenjar, A., Stefan Barakat, T., Bosch, F., Callewaert, B., Calvas, P., Ceulemans, B., Chassaing, N., Depienne, C., Endziniene, M., Ferreira, C. R., Moura de Souza, C. F., Freihuber, C., Ganesan, S., Gataullina, S., Guerrini, R., Guerrot, A. M., Hansen, L. & 34 others, Jezela-Stanek, A., Karsenty, C., Kievit, A., Kooy, F. R., Korff, C. M., Kragh Hansen, J., Larsen, M., Layet, V., Lesca, G., McBride, K. L., Meuwissen, M., Mignot, C., Montomoli, M., Moore, H., Naudion, S., Nava, C., Nougues, M. C., Parrini, E., Pastore, M., Schelhaas, J. H., Skinner, S., Szczałuba, K., Thomas, A., Thomassen, M., Tranebjærg, Lisbeth, van Slegtenhorst, M., Wolfe, L. A., Lal, D., Gardella, E., Bomme Ousager, L., Brünger, T., Helbig, I., Krawitz, P. & Møller, R. S., 2020, In: Epilepsia. 61, 6, p. 1142-1155

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

  8. Published

    Deciphering the premature mortality in PIGA-CDG – An untold story

    Bayat, A., Kløvgaard, M., Johannesen, K. M., Stefan Barakat, T., Kievit, A., Montomoli, M., Parrini, E., Pietrafusa, N., Schelhaas, J., van Slegtenhorst, M., Miya, K., Guerrini, R., Tranebjærg, Lisbeth, Tümer, Asuman Zeynep, Rubboli, Guido & Møller, R. S., 2021, In: Epilepsy Research. 170, 106530.

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

  9. Published

    DOORS syndrome and a recurrent truncating ATP6V1B2 variant

    Beauregard-Lacroix, E., Pacheco-Cuellar, G., Ajeawung, N. F., Tardif, J., Dieterich, K., Dabir, T., Vind-Kezunovic, D., White, S. M., Zadori, D., Castiglioni, C., Tranebjærg, L., Tørring, P. M., Blair, E., Wisniewska, M., Camurri, M. V., van Bever, Y., Molidperee, S., Taylor, J., Dionne-Laporte, A., Sisodiya, S. M. & 2 others, Hennekam, R. C. M. & Campeau, P. M., 2021, In: Genetics in Medicine. 23, p. 149–154

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

  10. Published

    Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities. Background Document to the ESHG recommendations on genetic testing and common disorders

    Becker, F., van El, C. G., Ibarreta, D., Zika, E., Hogarth, S., Borry, P., Cambon-Thomsen, A., Cassiman, J. J., Evers-Kiebooms, G., Hodgson, S., Janssens, A. C. J. W., Kaariainen, H., Krawczak, M., Kristoffersson, U., Lubinski, J., Patch, C., Penchaszadeh, V. B., Read, A., Rogowski, W., Sequeiros, J. & 32 others, Tranebjærg, Lisbeth, van Langen, I. M., Wallace, H., Zimmern, R., Schmidtke, J., Cornel, M. C., Becker, F., van El, C. G., Ibarreta, D., Zika, E., Hogarth, S., Borry, P., Cambon-Thomsen, A., Cassiman, J. J., Evers-Kiebooms, G., Hodgson, S., Janssens, A. C. J. W., Kaariainen, H., Krawczak, M., Kristoffersson, U., Lubinski, J., Patch, C., Penchaszadeh, V. B., Read, A., Rogowski, W., Sequeiros, J., Tranebjærg, Lisbeth, van Langen, I. M., Wallace, H., Zimmern, R., Schmidtke, J. & Cornel, M. C., 2011, In: European Journal of Human Genetics. 19 Suppl 1, p. S6-44

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

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