Lisbeth Tranebjærg

Lisbeth Tranebjærg

Professor emeritus.

Member of:

  • Clinical Genetics


Publication year:
All
1 - 25 out of 113Page size: 25
  1. 2023
  2. Published

    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, Girotto, G., Gasparini, P., Morgan, A., Bergen, A. A., ten Brink, J. B., Klaver, C. C. W., Tranebjærg, Lisbeth, Rendtorff, N. D., Vermeer, S., Smits, J. J., Pennings, R. J. E., Aben, M., Oostrik, J., Astuti, G. D. N., Corominas Galbany, J., Kroes, H. Y., Phan, M., van Zelst-Stams, W. A. G., Thiadens, A. A. H. J., Verheij, J. B. G. M., van Schooneveld, M. J., de Bruijn, S. E., Li, C. H. Z., Hoyng, C. B., Gilissen, C., Vissers, L. E. L. M., Cremers, F. P. M., Kremer, H., van Wijk, E. & Roosing, S., 2023, In: Human Genetics and Genomics Advances. 4, 2, 100181.

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

  3. 2022
  4. 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

  5. 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

  6. 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

  7. 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

  8. 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

  9. 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

  10. 2021
  11. Published

    Clinical manifestations and novel pathogenic variants in SOX10 in eight Danish probands with Waardenburg syndrome

    Moldenæs, M. F., Rendtorff, N. D., Hindbæk, L. S., Tørring, P. M., Nilssen, Ø. & Tranebjærg, Lisbeth, 2021, In: European Journal of Medical Genetics. 64, 9, 104265.

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

  12. 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

  13. 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

  14. 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

  15. 2020
  16. Published

    Beyond the tubule: pathological variants of LRP2, encoding the megalin receptor, result in glomerular loss and early progressive chronic kidney disease

    Charlton, J. R., Tan, W., Daouk, G., Teot, L., Rosen, S., Bennett, K. M., Cwiek, A., Nam, S., Emma, F., Jouret, F., Oliveira, J. P., Tranebjærg, Lisbeth, Frykholm, C., Mane, S., Hildebrandt, F., Srivastava, T., Storm, T., Christensen, E. I. & Nielsen, R., 2020, In: American journal of physiology. Renal physiology. 319, 6, p. F988-F999

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

  17. 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

  18. Published

    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, Amelie, Birkebæk, N. H., Hartmann-Petersen, Rasmus, Lindorff-Larsen, Kresten, Højland, A. T., Petersen, M. B. & Tranebjærg, Lisbeth, 2020, In: European Journal of Medical Genetics. 63, 3, 6 p., 103733.

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

  19. 2019
  20. Published

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

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

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

  21. Published

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

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

    Research output: Contribution to journal › Letter › Research › peer-review

  22. Published

    Cochlear implantation in a 10-year old boy with Pendred syndrome and extremely enlarged endolymphatic sacs

    Mikkelsen, K. S., Tranebjærg, Lisbeth & Mey, K., Mar 2019, In: Cochlear Implants International. 20, 2, p. 100-103 4 p.

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

  23. Published

    The Natural History of Hearing Loss in Pendred Syndrome and Non-Syndromic Enlarged Vestibular Aqueduct

    Mey, K., Bille, M., Rye Rasmussen, S. H., Tranebjærg, Lisbeth & Cayé-Thomasen, Per, Mar 2019, In: Otology & Neurotology. 40, 3, p. e178-e185 8 p.

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

  24. Published

    Functional assessment of variants associated with Wolfram syndrome

    Riachi, M., Yilmaz, S., Kurnaz, E., Aycan, Z., Çetinkaya, S., Tranebjærg, Lisbeth, Rendtorff, N. D., Bitner-Glindzicz, M., Bockenhauer, D. & Hussain, K., 2019, In: Human Molecular Genetics. 28, 22, p. 3815-3824 10 p.

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

  25. Published

    Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR-DSCR) on human chromosome 21

    Pelleri, M. C., Cicchini, E., Petersen, M. B., Tranebjærg, Lisbeth, Mattina, T., Magini, P., Antonaros, F., Caracausi, M., Vitale, L., Locatelli, C., Seri, M., Strippoli, P., Piovesan, A. & Cocchi, G., 2019, In: Molecular Genetics & Genomic Medicine. 7, 14 p., e797.

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

  26. 2018
  27. Published

    Adaptive Processes in Hearing

    Santurette, S., Christensen-Dalsgaard, J., Tranebjærg, Lisbeth, Andersen, T., Poulsen, T. & Dau, T., 2018, In: Trends in Hearing. 22, p. 1-2 2331216518762261.

    Research output: Contribution to journal › Editorial › Research

  28. Published

    Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome

    Xu, L., Jensen, H., Johnston, J. J., Di Maria, E., Kloth, K., Cristea, I., Sapp, J. C., Darling, T. N., Huryn, L. A., Tranebjærg, Lisbeth, Cinotti, E., Kubisch, C., Rødahl, E., Bruland, O., Biesecker, L. G., Houge, G. & Bredrup, C., 2018, In: American Journal of Human Genetics. 103, 6, p. 976-983 8 p.

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

  29. 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. & 11 others, 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, In: Human Genetics. 137, 2, p. 111-127 17 p.

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

  30. 2017
  31. 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, Lisbeth & University of Washington Center for Mendelian Genomics, U. O. W. C. F. M. G., 11 Dec 2017, In: Genes. 8, 12, 9 p., 381.

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

  32. Published

    A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy

    Zazo Seco, C., Castells-Nobau, A., Joo, S-H., Schraders, M., Foo, J. N., van der Voet, M., Velan, S. S., Nijhof, B., Oostrik, J., de Vrieze, E., Katana, R., Mansoor, A., Huynen, M., Szklarczyk, R., Oti, M., Tranebjærg, L., van Wijk, E., Scheffer-de Gooyert, J. M., Siddique, S., Baets, J. & 10 others, de Jonghe, P., Kazmi, S. A. R., Sadananthan, S. A., van de Warrenburg, B. P., Khor, C. C., Göpfert, M. C., Qamar, R., Schenck, A., Kremer, H. & Siddiqi, S., Feb 2017, In: Disease models & mechanisms. 10, p. 105-118 14 p.

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

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ID: 1571395