Lisbeth Tranebjærg

Lisbeth Tranebjærg

Professor emeritus.

Member of:

  • Clinical Genetics


Publication year:
All
1 - 100 out of 113Page size: 100
  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

  33. 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., Andréasson, S., Rendtorff, N. D., Tranebjærg, Lisbeth, Koenig, M., Lacombe, D., Goizet, C. & Babin, P. J., Feb 2017, In: Neurobiology of Disease. 98, p. 36-51 16 p.

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

  34. 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, Lisbeth & Griffith, A. J., 2017, In: Journal of Medical Genetics. 54, 10, p. 665-673 9 p.

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

  35. 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

  36. 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, Lisbeth, Katsanis, N. & Cremers, F. P. M., 2017, In: Ophthalmic Genetics. 38, 2, p. 127-132 6 p.

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

  37. 2016
  38. Published

    A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa

    Hartel, B. P., Lofgren, M., Huygen, P. L. M., Guchelaar, I., Kort, N. L., Sadeghi, A. M., van Wijki, E., Tranebjærg, Lisbeth, Kremer, H., Kimberling, W. J., Cremers, C. W. R. J., Moller, C. & Pennings, R. J. E., Sep 2016, In: Hearing Research. 339, p. 60-68

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

  39. Published

    Usher syndrome in Denmark: mutation spectrum and some clinical observations

    Shzeena, D., Rendtorff, N. D., Tranebjærg, Lisbeth, Grønskov, K., Karstensen, H. G., Brox, V., Nilssen, Ø., Roux, A., 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 journal › Journal article › Research › peer-review

  40. Published

    Individual Hearing Loss: Characterization, Modelling, Compensation Strategies

    Santurette, S., Dau, T., Christensen-Dalsgaard, J., Tranebjærg, Lisbeth, Andersen, T. & Poulsen, T., 26 Aug 2016, In: Trends in hearing. 20, p. 1-2 2 p.

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

  41. Published

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

    Rasmussen, Malene Bøgehus, Kreiborg, Sven, Jensen, P., Bak, M., Mang, Y., Lodahl, M., Budtz-Joergensen, Esben, Tommerup, Niels, Tranebjærg, Lisbeth & Rendtorff, N. D., Mar 2016, In: Human Genetics. 135, 3, p. 345-457 13 p.

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

  42. 2015
  43. 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. P., Petersen, K. B., Crueger, D. G., Oostrik, J., Kremer, H., Tommerup, N., Froedin, M., Steel, K. P. & 2 others, Tranebjærg, Lisbeth & Borglum, A. D., Jul 2015, In: P L o S Genetics. 11, 7, p. 1-25 25 p., e1005386.

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

  44. Published

    Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations

    Dondorp, W., de Wert, G., Bombard, Y., Bianchi, D. W., Bergmann, C., Borry, P., Chitty, L. S., Fellmann, F., Forzano, F., Hall, A., Henneman, L., Howard, H. C., Lucassen, A., Ormond, K., Peterlin, B., Radojkovic, D., Rogowski, W., Soller, M., Tibben, A., Tranebjærg, L. & 2 others, van El, C. G. & Cornel, M. C., 1 Apr 2015, In: European Journal of Human Genetics. 3 p.

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

  45. Published

    Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening

    Dondorp, W., de Wert, G., Bombard, Y., Bianchi, D. W., Bergmann, C., Borry, P., Chitty, L. S., Fellmann, F., Forzano, F., Hall, A., Henneman, L., Howard, H. C., Lucassen, A., Ormond, K., Peterlin, B., Radojkovic, D., Rogowski, W., Soller, M., Tibben, A., Tranebjærg, L. & 3 others, van El, C. G., Cornel, M. C. & European Society of Human Genetics, E. S. O. H. G., 2015, In: European Journal of Human Genetics. 23, 11, p. 1438-50 13 p.

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

  46. Published

    Partial USH2A deletions contribute to Usher syndrome in Denmark

    Dad, S., Rendtorff, N. D., Kann, E., Albrechtsen, Anders, M. Mehrjouy, M., Bak, M., Tommerup, Niels, Tranebjærg, Lisbeth, Rosenberg, T., Jensen, H. & Møller, L. B., 2015, In: European Journal of Human Genetics. 23, p. 1646-1651 6 p.

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

  47. 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., Lodahl, M., Wedén, U., Dahl, N., Tranebjærg, Lisbeth & Rendtorff, N. D., 2015, In: Gene. 563, 1, p. 10-16 7 p.

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

  48. Published

    Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness

    Severin, F., Borry, P., Cornel, M. C., Daniels, N., Fellmann, F., Victoria Hodgson, S., Howard, H. C., John, J., Kääriäinen, H., Kayserili, H., Kent, A., Koerber, F., Kristoffersson, U., Kroese, M., Lewis, C., Marckmann, G., Meyer, P., Pfeufer, A., Schmidtke, J., Skirton, H. & 2 others, Tranebjærg, Lisbeth & Rogowski, W. H., 2015, In: European Journal of Human Genetics. 23, p. 1-7 7 p.

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

  49. 2014
  50. Published

    Genomet og syns- og høresansen

    Tranebjærg, Lisbeth, Rendtorff, N. D. & Brøndum-Nielsen, K., 10 Nov 2014, In: Ugeskrift for Laeger. 176, 23, p. 2160-2163 4 p., V06140365 .

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

  51. Published

    Mitochondrial 12S ribosomal RNA A1555G mutation associated with cardiomyopathy and hearing loss following high-dose chemotherapy and repeated aminoglycoside exposure

    Skou, A., Tranebjærg, Lisbeth, Jensen, T. & Hasle, H., Feb 2014, In: The Journal of Pediatrics. 164, 2, p. 413-5 3 p.

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

  52. 2013
  53. Published

    WFS1-Related Disorders

    Tranebjærg, Lisbeth, Barrett, T. & Rendtorff, N., 19 Dec 2013, In: GeneReviews. p. 1-26 26 p.

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

  54. Published

    SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations

    Rendtorff, N. D., Schrijver, I., Lodahl, M., Rodriguez-Paris, J., Johnsen, T., Hansén, E., Nickelsen, L., Tümer, Asuman Zeynep, Fagerheim, T., Wetke, R. & Tranebjærg, Lisbeth, Oct 2013, In: Clinical Genetics. 84, 4, p. 388-391 4 p.

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

  55. Published

    Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics

    van El, C. G., Cornel, M. C., Borry, P., Hastings, R. J., Fellmann, F., Hodgson, S. V., Howard, H. C., Cambon-Thomsen, A., Knoppers, B. M., Meijers-Heijboer, H., Scheffer, H., Tranebjærg, Lisbeth, Dondorp, W., de Wert, G. M. W. R. & ESHG Public and Professional Policy Committee, E. P. A. P. P. C., Jun 2013, In: European Journal of Human Genetics. 21 Suppl 1, p. S1-5

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

  56. Published

    Renal phenotypic investigations of megalin-deficient patients: novel insights into tubular proteinuria and albumin filtration

    Storm, T., Tranebjærg, Lisbeth, Frykholm, C., Birn, H., Verroust, P. J., Nevéus, T., Sundelin, B., Hertz, J. M., Holmström, G., Ericson, K., Christensen, E. I. & Nielsen, R., Mar 2013, In: Nephrology, Dialysis, Transplantation. 28, 3, p. 585-91 7 p.

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

  57. Published

    Developing a policy for paediatric biobanks: principles for good practice

    Hens, K., Van El, C. E., Borry, P., Cambon-Thomsen, A., Cornel, M. C., Forzano, F., Lucassen, A., Patch, C., Tranebjærg, Lisbeth, Vermeulen, E., Salvaterra, E., Tibben, A. & Dierickx, K., Jan 2013, In: European Journal of Human Genetics. 21, 1, p. 2-7 6 p.

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

  58. Published

    3-Methylglutaconic aciduria—lessons from 50 genes and 977 patients

    Wortmann, S. B., Kluijtmans, L. A. J., Rodenburg, R. J., Sass, J. O., Nouws, J., van Kaauwen, E. P., Kleefstra, T., Tranebjærg, Lisbeth, de Vries, M. C., Isohanni, P., Walter, K., Alkuraya, F. S., Smuts, I., Reinecke, C. J., van der Westhuizen, F. H., Thorburn, D., Smeitink, J. A. M., Morava, E. & Wevers, R. A., 2013, In: Journal of Inherited Metabolic Disease. 36, 6, p. 913-921

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

  59. Published

    EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome

    Farmer, A., Aymé, S., de Heredia, M. L., Maffei, P., McCafferty, S., M?ynarski, W., Nunes, V., Parkinson, K., Paquis-Flucklinger, V., Rohayem, J., Sinnott, R., Tillmann, V., Tranebjærg, Lisbeth & Barrett, T. G., 2013, In: B M C Pediatrics. 13, 7 p., 130.

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

  60. Published

    Hearing impairment in Estonia: An algorithm to investigate genetic causes in pediatric patients

    Teek, R., Kruustük, K., Zordania, R., Joost, K., Kahre, T., Tõnisson, N., Nelis, M., Zilina, O., Tranebjærg, Lisbeth, Reimand, T. & Ounap, K., 2013, In: Advances in Medical Sciences. 58, 2, p. 419–428 10 p.

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

  61. Published

    Optic nerve histopathology in a case of Wolfram Syndrome: A mitochondrial pattern of axonal loss

    Ross-Cisneros, F. N., Pan, B. X., Silva, R. A., Miller, N. R., Albini, T. A., Tranebjærg, Lisbeth, Rendtorff, N. D., Lodahl, M., Moraes-Filho, M. N., Moraes, M. N., Salomao, S. R., Berezovsky, A., Belfort, R., Carelli, V. & Sadun, A. A., 2013, In: Mitochondrion. 13, 6, p. 841-845 5 p.

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

  62. Published

    Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome

    Husu, E., Hove, H., Farholt, S., Bille, M., Tranebjærg, Lisbeth, Vogel, I. & Kreiborg, Sven, 2013, In: Clinical Genetics. 83, 2, p. 125-134 10 p.

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

  63. Published

    Progressive dystonia in Mohr-Tranebjaerg syndrome with cochlear implant and deep brain stimulation

    Cif, L., Gonzalez, V., Garcia-Ptacek, S., James, S., Boetto, J., Seychelles, A., Roujeau, T., Moura De Ribeiro, A. M., Sillon, M., Mondain, M., Coubes, P. & Tranebjærg, Lisbeth, 2013, In: Movement disorders : official journal of the Movement Disorder Society. 28, 6, p. 737-738 2 p.

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

  64. Published

    Whole-genome sequencing in health care: Recommendations of the European Society of Human Genetics

    van El, C. G., Cornel, M. C., Borry, P., Hastings, R. J., Fellmann, F., Hodgson, S. V., Howard, H. C., Cambon-Thomsen, A., Knoppers, B. M., Meijers-Heijboer, H., Scheffer, H., Tranebjærg, Lisbeth, Dondorp, W., de Wert, G. M. W. R., Public, E. & Committee, P. P., 2013, In: European Journal of Human Genetics. 21, 6, p. 580-584 5 p.

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

  65. 2012
  66. Published

    A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome

    Bergman, J. E. H., Janssen, N., van der Sloot, A. M., de Walle, H. E. K., Schoots, J., Rendtorff, N. D., Tranebjærg, Lisbeth, Hoefsloot, L. H., van Ravenswaaij-Arts, C. M. A. & Hofstra, R. M. W., Aug 2012, In: Human Mutation. 33, 8, p. 1251-1260 10 p.

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

  67. Published

    Mutation update on the CHD7 gene involved in CHARGE syndrome

    Janssen, N., Bergman, J. E. H., Swertz, M. A., Tranebjærg, Lisbeth, Lodahl, M., Schoots, J., Hofstra, R. M. W., van Ravenswaaij-Arts, C. M. A. & Hoefsloot, L. H., Aug 2012, In: Human Mutation. 33, 8, p. 1149-1160 12 p.

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

  68. Published

    GJB2 (Connexin-26) mutations are not frequent among hearing impaired patients in east Greenland

    Homøe, Preben, Koch, A., Rendtorff, N. D., Lodahl, M., Andersen, T., Andersen, S., Eiberg, Hans Rudolf Lytchoff, Nielsen, I. & Tranebjærg, Lisbeth, Jun 2012, In: International Journal of Audiology. 51, 6, p. 433-6 4 p.

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

  69. Published

    "Mitochondrial diseases caused by mutations in inner membrane chaperone proteins"Book title: "Mitochondrial disorders Caused by Nuclear Genes"

    Tranebjærg, Lisbeth, 2012, "Mitochondrial diseases causes by mutatons in inner membrane chaperone proteins". Wong, L-J. (ed.).

    Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Research › peer-review

  70. Published

    Alterations in expression levels of deafness dystonia protein 1 affect mitochondrial morphology

    Engl, G., Florian, S., Tranebjærg, Lisbeth & Rapaport, D., 2012, In: Human Molecular Genetics. 21, 2, p. 287-99 13 p.

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

  71. Published

    Jervell and Lange-Nielsen Syndrome in: GeneReviews at GeneTests

    Tranebjærg, Lisbeth, 2012, In: Medical Genetics Information Resource.

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

  72. Published

    Rapidly progressive renal disease as part of Wolfram syndrome in a large inbred Turkish family due to a novel WFS1 mutation (p.Leu511Pro)

    Yuca, S. A., Rendtorff, N. D., Boulahbel, H., Lodahl, M., Tranebjærg, Lisbeth, Cesur, Y., Dogan, M., Yilmaz, C., Akgun, C. & Acikgoz, M., 2012, In: European Journal of Medical Genetics. 55, 1, p. 37-42 6 p.

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

  73. Published

    The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome

    Ha, A. D., Parratt, K. L., Rendtorff, N. D., Lodahl, M., Ng, K., Rowe, D. B., Sue, C. M., Hayes, M. W., Tranebjærg, Lisbeth & Fung, V. S. C., 2012, In: Movement Disorders. 27, 8, p. 1034-40 7 p.

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

  74. 2011
  75. Published

    A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis-ichthyosis-deafness (KID) syndrome

    Koppelhus, U., Tranebjærg, Lisbeth, Esberg, G., Ramsing, M., Lodahl, M., Rendtorff, N. D., Olesen, H. V., Sommerlund, M., Koppelhus, U., Tranebjærg, Lisbeth, Esberg, G., Ramsing, M., Lodahl, M., Rendtorff, N. D., Olesen, H. V. & Sommerlund, M., 1 Mar 2011, In: Clinical and Experimental Dermatology. 36, 2, p. 142-8 7 p.

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

  76. Published

    Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss

    Kokotas, H., Grigoriadou, M., Yang, L., Lodahl, M., Rendtorff, N. D., Gyftodimou, Y., Korres, G. S., Ferekidou, E., Kandiloros, D., Korres, S., Tranebjærg, L., Guan, M-X., Petersen, M. B., Kokotas, H., Grigoriadou, M., Li, Y., Lodahl, M., Rendtorff, N. D., Gyftodimou, Y., Korres, G. S. & 6 others, Ferekidou, E., Kandiloros, D., Korres, S., Tranebjærg, Lisbeth, Guan, M. & Petersen, M. B., 1 Jan 2011, In: International Journal of Pediatric Otorhinolaryngology. 75, 1, p. 89-94 6 p.

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

  77. Published

    Two new cases with microdeletion of 17Q23.2 suggest presence of af candidate gene for sensorineural hearing loss within this region.

    Tranebjærg, Lisbeth, Jan 2011, In: American Journal of Medical Genetics.

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

  78. 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

  79. Published

    Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment

    Rendtorff, N. D., Lodahl, M., Boulahbel, H., Johansen, I. R., Pandya, A., Welch, K. O., Norris, V. W., Arnos, K. S., Bitner-Glindzicz, M., Emery, S. B., Mets, M. B., Fagerheim, T., Eriksson, K., Hansen, Lars, Bruhn, H., Möller, C., Lindholm, S., Ensgaard, S., Lesperance, M. M. & Tranebjærg, Lisbeth, 2011, In: American Journal of Medical Genetics. Part A. 155, 6, p. 1298-313 16 p.

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

  80. Published

    Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting

    Chen, N., Tranebjærg, Lisbeth, Rendtorff, N. D., Schrijver, I., Chen, N., Tranebjærg, Lisbeth, Rendtorff, N. D. & Schrijver, I., 2011, In: The Journal of molecular diagnostics : JMD. 13, 4, p. 416-26 11 p.

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

  81. Published

    Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region

    Schönewolf-Greulich, B., Ronan, A., Ravn, K., Baekgaard, P., Lodahl, M., Nielsen, K., Rendtorff, N. D., Tranebjærg, Lisbeth, Brøndum-Nielsen, K. & Tümer, Asuman Zeynep, 2011, In: American Journal of Medical Genetics. Part A. 155A, 12, p. 2964-9 6 p.

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

  82. 2010
  83. Published

    Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene

    Sun, C., Van Ghelue, M., Tranebjærg, Lisbeth, Thyssen, F., Nilssen, O., Torbergsen, T., Sun, C., Van Ghelue, M., Tranebjærg, Lisbeth, Thyssen, F., Nilssen, O. & Torbergsen, T., 15 Dec 2010, In: Dysmorphology and Clinical Genetics.

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

  84. Published

    Genetic education and the challenge of genomic medicine: development of core competences to support preparation of health professionals in Europe

    Skirton, H., Lewis, C., Kent, A., Coviello, D. A., Members of Eurogentest Unit 6 and ESHG Education Committee, M. O. E. U. 6. A. E. E. C. & Tranebjærg, Lisbeth, 1 Sep 2010, In: European Journal of Human Genetics. 18, 9, p. 972-7 6 p.

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

  85. Published

    Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion

    Morisada, N., Rendtorff, N. D., Nozu, K., Morishita, T., Miyakawa, T., Matsumoto, T., Hisano, S., Iijima, K., Tranebjærg, L., Shirahata, A., Matsuo, M., Kusuhara, K., Morisada, N., Rendtorff, N. D., Nozu, K., Morishita, T., Miyakawa, T., Matsumoto, T., Hisano, S., Iijima, K. & 4 others, Tranebjærg, Lisbeth, Shirahata, A., Matsuo, M. & Kusuhara, K., 1 Jul 2010, In: Pediatric Nephrology. 25, 7, p. 1343-8 6 p.

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

  86. Published

    Genotype-phenotype correlation for DFNA22: characterization of non-syndromic, autosomal dominant, progressive sensorineural hearing loss due to MYO6 mutations

    Topsakal, V., Hilgert, N., van Dinther, J., Tranebjærg, Lisbeth, Rendtorff, N. D., Zarowski, A., Offeciers, E., Van Camp, G., van de Heyning, P., Topsakal, V., Hilgert, N., van Dinther, J., Tranebjærg, Lisbeth, Rendtorff, N. D., Zarowski, A., Offeciers, E., Van Camp, G. & van de Heyning, P., 1 Jan 2010, In: Audiology and Neuro-Otology. 15, 4, p. 211-20 10 p.

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

  87. Published

    Usher Syndrome: Diagnostic utility of the Asper Biotech's Genotyping Microarray

    Tranebjærg, Lisbeth, Rendtorff, N., Lodahl, M., Stensland, H. & Möller, A. R., 2010, Usher Syndrome: Pathogenesis, Diagnosis and Therapy. Ahuja, S. (ed.). Nova Science Publishers

    Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Research › peer-review

  88. 2009
  89. Published

    WFS1-Related Disorders

    Tranebjærg, Lisbeth, Barrett, T. & Rendtorff, N. D., 24 Feb 2009

    Research output: Other contribution › Net publication - Internet publication › Research › peer-review

  90. Published

    Deafness-Dystonia-Optic Neuronopathy Syndrome: GeneReviews [Internet] at Gene Tests: Medical Information Resource [database online]

    Tranebjærg, Lisbeth, Pagon, R. A., Bird, T. C., Dolan, C. R. & Stephens, K., 2009, Seattle

    Research output: Other contribution › Research

  91. Published

    Genetic testing in asymptomatic minors: Recommendations of the European Society of Human Genetics

    Cornel, M., Evers-Kiebooms, G., Ayme, S., Braga, S., Bricarelli, F., Hodgson, S., Kosztolany, G., Lubinski, J., Ozgüc, M., Patch, C., Sequeiros, J., Tranebjærg, Lisbeth, van Heyningen, V., Borry, P., Dierickx, K., Clarke, A. & European Society of Human Genetics, E. S. O. H. G., 2009, In: European Journal of Human Genetics. 17, 6, p. 720-1 1 p.

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

  92. Published

    Genetic testing in asymptomatic minors: background considerations towards ESHG Recommendations

    Borry, P., Evers-Kiebooms, G., Cornel, M. C., Clarke, A., Dierickx, K., Public and Professional Policy Committee (PPPC) of the European Society of Human Genetics (ESHG), P. A. P. P. C. (. O. T. E. S. O. H. G. (. & Tranebjærg, Lisbeth, 2009, In: European Journal of Human Genetics. 17, 6, p. 711-9 8 p.

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

  93. Published

    Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter

    Kirchhoff, M., Bisgaard, A., Stoeva, R., Dimitrov, B., Gillessen-Kaesbach, G., Fryns, J., Rose, H., Grozdanova, L., Ivanov, I., Keymolen, K., Fagerberg, C., Tranebjærg, Lisbeth, Skovby, F. & Stefanova, M., 2009, In: American Journal of Medical Genetics. Part A. 149A, 5, p. 894-905 11 p.

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

  94. Published

    Related Disorders: GeneReviews [Internet] at Gene Tests: Medical Information Resource [database online]

    Tranebjærg, Lisbeth, ´Barrett, T., Rendtorff, N. D., Pagon, R. A., Bird, T. C., Dolan, C. R. & Stephens, K., 2009, Seattle

    Research output: Other contribution › Research

  95. 2008
  96. Published

    A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family

    Sanggaard, K. M., Kjær, K. W., Eiberg, Hans Rudolf Lytchoff, Nurnberg, G., Nurnberg, P., Hoffman, K., Jensen, H., Sorum, C., Rendtorff, N. D. & Tranebjærg, Lisbeth, 2008, In: American Journal of Medical Genetics. Part A. 146A, 8, p. 1017-1025 8 p.

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

  97. Published

    Cochlear implantation in deafness-dystonia-optic neuronopathy (DDON) syndrome

    Brookes, J. T., Kanis, A. B., Tan, L. Y., Tranebjærg, Lisbeth, Vore, A. & Smith, R. J. H., 2008, In: International Journal of Pediatric Otorhinolaryngology. 72, 1, p. 121-126 5 p.

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

  98. Published

    Deafness-Dystonia-Optic Neuronopathy Syndrome

    Tranebjærg, Lisbeth, 2008, GeneTests: GeneReviews: Medical Genetics Information Resource. US: University of Washington Press

    Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Research

  99. Published

    Genetics of congenital hearing impairment: A clinical approach

    Tranebjærg, Lisbeth, 2008, In: International Journal of Audiology. 47, 9, p. 535-545 10 p.

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

  100. 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

  101. 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

  102. Published

    Patenting and licensing in genetic testing: ethical, legal, and social issues

    Soini, S., Aymé, S., Matthijs, G., Tranebjærg, Lisbeth & Public and Professional Policy Committee and Patenting and Licensing Committee, P. A. P. P. C. A. P. A. L. C., 2008, In: European Journal of Human Genetics. 16 Suppl 1, p. S10-50

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

  103. Published

    Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II

    Dreyer, B., Brox, V., Tranebjærg, Lisbeth, Rosenberg, T., Sadeghi, A. M., Moller, C. & Nilssen, O., 2008, In: Human Mutation. 29, 3, p. 451-451

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

  104. Published

    The spectrum of dystonia in Mohr-Tranebjaerg syndrome in three Australian kindreds

    Parratt, K. L., Ng, K., Rowe, D. B., Morris, J. G. L., Hayes, M. W., Sue, C. M., Tranebjærg, Lisbeth & Fung, V. S. C., 2008, In: Movement Disorders. 23, 1 Suppl. S, p. S32-S32

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

  105. Published

    Wolframin 1-related Disease and Hearing

    Tranebjærg, Lisbeth, 2008, Wfs1 protein (wolframin): emerging link between the emotional brain and endocrine pancreas. Köks, S. & Vasar, E. (eds.). Kerala, India: Research Publishers, p. 107-

    Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Research

  106. 2007
  107. Published

    Asian origin for the worldwide-spread mutational event in Machado-Joseph disease

    Martins, S., Calafell, F., Gaspar, C., Wong, V. C. N., Silveira, I., Nicholson, G. A., Brunt, E. R., Tranebjærg, L., Stevanin, G., Hsieh, M., Soong, B. W., Loureiro, L., Duerr, A., Tsuji, S., Watanabe, M., Jardim, L. B., Giunti, P., Riess, O., Ranum, L. P. W., Brice, A. & 4 others, Rouleau, G. A., Coutinho, P., Amorim, A. & Sequeiros, J., 2007, In: Archives of Neurology. 64, 10, p. 1502-1509 7 p.

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

  108. Published

    Audiologisk genetik

    Tranebjærg, Lisbeth & Arlinger, S., 2007, Nordisk lärobok i audiologi. Bromma: Nordic Forum for Dance Research, Vol. 4.3. p. -

    Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Research

  109. Published

    Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses

    Sanggaard, K. M., Rendtorff, N. D., Kjær, K. W., Eiberg, Hans Rudolf Lytchoff, Johnsen, T., Gimsing, S., Dyrmose, J., Nielsen, K. O., Lage, K. & Tranebjærg, Lisbeth, 2007, In: European Journal of Human Genetics. 15, 11, p. 1121-1131 10 p.

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

  110. Published

    Missense mutations in the BCS1L gene as a cause of the Bjornstad syndrome

    Hinson, J. T., Fantin, V. R., Schonberger, J., Breivik, N., Siem, G., McDonough, B., Sharma, P., Keogh, I., Godinho, R., Santos, F., Esparza, A., Nicolau, Y., Selvaag, E., Cohen, B. H., Hoppel, C. L., Tranebjærg, Lisbeth, Eavey, R. D., Seidman, J. G. & Seidman, C. E., 2007, In: New England Journal of Medicine. 356, 8, p. 809-819 10 p.

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

  111. Published

    Non-disjunction of chromosome

    Bugge, Merete, Collins, A., Hertz, J. M., Eiberg, Hans Rudolf Lytchoff, Lundsteen, C., Brandt, C. A., Hansen, C., deLozier, C. D., Lespinasse, J., Tranebjærg, Lisbeth, Hahnemann, J. M. D., Rasmussen, K., Bruun-Petersen, G., Duprez, L., Tommerup, Niels & Petersen, M. B., 2007, In: Human Molecular Genetics. 16, 16, p. 2004-2010 6 p.

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

  112. 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

  113. Published

    The coding region of TP53INP2, a gene expressed in the developing nervous system, is not altered in a family with autosomal recessive non-progressive infantile ataxia on chromosome 20q11-q13

    Bennetts, J. S., Rendtorff, N. D., Simpson, F., Tranebjærg, Lisbeth & Wicking, C., 2007, In: Developmental Dynamics. 236, 3, p. 843-852 9 p.

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

  114. 2006
  115. Published

    A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment

    Rendtorff, N. D., Zhu, M., Fagerheim, T., Antal, T. L., Jones, M., Teslovich, T. M., Gillanders, E. M., Barmada, M., Teig, E., Trent, J. M., Friderici, K. H., Stephan, D. A. & Tranebjærg, Lisbeth, 2006, In: European Journal of Human Genetics. 14, 10, p. 1097-1105 8 p.

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

  116. Published

    Effects of human deafness gamma-actin mutations (DFNA20/26) on actin function

    Bryan, K. E., Wen, K. K., Zhu, M., Rendtorff, N. D., Feldkamp, M., Tranebjærg, Lisbeth, Friderici, K. H. & Rubenstein, P. A., 2006, In: Journal of Biological Chemistry. 281, 29, p. 20129-20139 10 p.

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

  117. Published

    The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues

    Soini, S., Ibarreta, D., Anastasiadou, V., Ayme, S., Braga, S., Cornel, M., Coviello, D. A., Evers-Kiebooms, G., Geraedts, J., Gianaroli, L., Harper, J., Kosztolanyi, G., Lundin, K., Rodrigues-Cerezo, E., Sermon, K., Sequeiros, J., Tranebjærg, Lisbeth & Kaariainen, H., 2006, In: European Journal of Human Genetics. 14, 5, p. 588-645 57 p.

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

  118. 2005
  119. Published

    Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified

    Hansen, Lars, Eiberg, Hans Rudolf Lytchoff, Barrett, T., Bek, T., Kjærsgaard, P., Tranebjærg, Lisbeth & Rosenberg, T., 2005, In: European Journal of Human Genetics. 13, 12, p. 1275-1284

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

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