Lisbeth Tranebjærg

Research output

Research output per year 1997 2007 2008 2011 2012 2013 2020

• 83 Journal article
• 5 Book chapter
• 3 Net publication - Internet publication
• 2 Editorial
• 3 More
  • 2 Other contribution
  • 1 Letter

Research output per year

Research output per year

Search results

• 2011

  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., Tranebjaerg, L., Brøndum-Nielsen, K. & Tümer, Z., Dec 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

  • Sensorineural Hearing Loss 100%
  • Extremities 43%
  • Heart 38%
  • Microcephaly 35%
  • Genes 35%
  4 Citations (Scopus)

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

  Tranebjærg, L., Dec 2011, In: American Journal of Medical Genetics.

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

  • Sensorineural Hearing Loss 100%
  • Extremities 43%
  • Heart 38%
  • Microcephaly 35%
  • Genes 35%
• 2010

  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 othersTranebjaerg, L., 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

  • Branchio-Oto-Renal Syndrome 100%
  • Long Interspersed Nucleotide Elements 88%
  • Exons 47%
  • Multiplex Polymerase Chain Reaction 42%
  • Polymerase Chain Reaction 22%
  29 Citations (Scopus)

• 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 & Tranebjærg, L., 1 Sept 2010, In: European Journal of Human Genetics. 18, 9, p. 972-7 6 p.

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

  • Mental Competency 100%
  • Professional Education 90%
  • Medicine 76%
  • Education 65%
  • Health 50%
  99 Citations (Scopus)

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

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

  • Autosomal dominant nonsyndromic sensorineural 22 Deafness 100%
  • Sensorineural Hearing Loss 50%
  • Genetic Association Studies 47%
  • Mutation 25%
  • Hearing Loss 21%
  11 Citations (Scopus)

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

  Tranebjærg, L., Rendtorff, ND., Lodahl, M., Stensland, HMFR. & Möller, AF. 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
• 2009

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

  Tranebjaerg, L., Pagon, R. A., Bird, T. C., Dolan, C. R. & Stephens, K., 2009, Seattle

  Research output: Other contribution › Research

• 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) & Tranebjærg, L., 2009, In: European Journal of Human Genetics. 17, 6, p. 711-9 8 p.

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

  • Minors 100%
  • Genetic Testing 73%
  • Human Genetics 57%
  • Guidelines 30%
  • Delivery of Health Care 28%
  123 Citations (Scopus)

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

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

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

  112 Citations (Scopus)

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

  Kirchhoff, M., Bisgaard, A-M., Stoeva, R., Dimitrov, B., Gillessen-Kaesbach, G., Fryns, J-P., Rose, H., Grozdanova, L., Ivanov, I., Keymolen, K., Fagerberg, C., Tranebjaerg, L., 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

  • 13q deletion syndrome 100%
  • Dandy-Walker Syndrome 61%
  • Agenesis of Corpus Callosum 55%
  • Chromosomes, Human, Pair 13 53%
  • Phenotype 35%
  91 Citations (Scopus)

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

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

  Research output: Other contribution › Research

• WFS1-Related Disorders

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

  Research output: Other contribution › Net publication - Internet publication › Research › peer-review
• 2008

  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, H., Nurnberg, G., Nurnberg, P., Hoffman, K., Jensen, H., Sorum, C., Rendtorff, N. D. & Tranebjaerg, L., 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

  30 Citations (Scopus)

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

  Brookes, J. T., Kanis, A. B., Tan, L. Y., Tranebjaerg, L., 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

  28 Citations (Scopus)

• Deafness-Dystonia-Optic Neuronopathy Syndrome

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

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

• Genetics of congenital hearing impairment: A clinical approach

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

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

  21 Citations (Scopus)

• Histopathology of nonsyndromic autosomal dominant midfrequency sensorineural hearing loss

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

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

  5 Citations (Scopus)

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

  Anttonen, A. K., Siintola, E., Tranebjaerg, L., 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

  30 Citations (Scopus)

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

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

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

  29 Citations (Scopus)

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

  Dreyer, B., Brox, V., Tranebjaerg, L., 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

  82 Citations (Scopus)

• 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., Tranebjaerg, L. & 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

• Wolframin 1-related Disease and Hearing

  Tranebjærg, L., 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
• 2007

  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 othersRouleau, 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

  56 Citations (Scopus)

• Audiologisk genetik

  Tranebjærg, L. & 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

• 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, H. R. L., Johnsen, T., Gimsing, S., Dyrmose, J., Nielsen, K. O., Lage, K. & Tranebjærg, L., 2007, In: European Journal of Human Genetics. 15, 11, p. 1121-1131 10 p.

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

  38 Citations (Scopus)

• 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, L., 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

  143 Citations (Scopus)

• Non-disjunction of chromosome

  Bugge, T. M., Collins, A., Hertz, J. M., Eiberg, H. R. L., Lundsteen, C., Brandt, C. A., Hansen, C., deLozier, C. D., Lespinasse, J., Tranebjærg, L., Hahnemann, J. M. D., Rasmussen, K., Bruun-Petersen, G., Duprez, L., Tommerup, N. & 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

  29 Citations (Scopus)

• Otopathology in Mohr-Tranebjaerg syndrome

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

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

  31 Citations (Scopus)

• 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, L. & Wicking, C., 2007, In: Developmental Dynamics. 236, 3, p. 843-852 9 p.

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

  12 Citations (Scopus)
• 2006

  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, L., 2006, In: European Journal of Human Genetics. 14, 10, p. 1097-1105 8 p.

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

  44 Citations (Scopus)

• 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, L., 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

  30 Citations (Scopus)

• 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, L. & 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

  114 Citations (Scopus)
• 2005

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

  Hansen, L., Eiberg, H. R. L., Barrett, T., Bek, T., Kjærsgaard, P., Tranebjærg, L. & Rosenberg, T., 2005, In: European Journal of Human Genetics. 13, 12, p. 1275-1284

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

  60 Citations (Scopus)
• 2004

  Identification of a novel EYA1 splice-site mutation in a Danish branchio-oto-renal syndrome family

  Henriksen, A. M., Tümer, Z., Tommerup, N., Tranebjaerg, L. & Larsen, L. A., 2004, In: Genetic Testing. 8, 4, p. 404-6 2 p.

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

  • Branchio-Oto-Renal Syndrome 100%
  • Mutation 32%
  • Kidney 30%
  • Congenital Preauricular Fistulae 27%
  • Haploinsufficiency 18%
  5 Citations (Scopus)
• 2003

  Deafness-Dystonia-Optic Neuronopathy Syndrome.

  Tranebjærg, L., 6 Feb 2003

  Research output: Other contribution › Net publication - Internet publication › Research › peer-review
• 2002

  Jervell and Lange-Nielsen Syndrome.

  Tranebjærg, L., Samson, RA. & Green, GE., 29 Jul 2002

  Research output: Other contribution › Net publication - Internet publication › Research › peer-review
• 2001

  Ancestral origins of the Machado-Joseph disease mutation: A worldwide haplotype study

  Gaspar, C., Lopes-Cendes, I., Hayes, S., Goto, J., Arvidsson, K., Dias, A., Silveira, I., Maciel, P., Coutinho, P., Lima, M., Zhou, Y. X., Soong, B. W., Watanabe, M., Giunti, P., Stevanin, G., Riess, O., Sasaki, H., Hsieh, M., Nicholson, G. A., Brunt, E., & 10 othersHiggins, J. J., Lauritzen, M., Tranebjaerg, L., Volpini, V., Wood, N., Ranum, L., Tsuji, S., Brice, A., Sequeiros, J. & Rouleau, G. A., 1 Jan 2001, In: American Journal of Human Genetics. 68, 2, p. 523-528 6 p.

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

  • Machado-Joseph Disease 100%
  • Haplotypes 62%
  • Mutation 37%
  • Islands 23%
  • Spinocerebellar Ataxias 14%
  99 Citations (Scopus)

• Multiple founder effects in spinal and bulbar muscular atrophy (SBMA, Kennedy disease) around the world

  Lund, A., Udd, B., Juvonen, V., Andersen, P. M., Cederquist, K., Davis, M., Cellera, C., Kölmel, C., Ronnevi, L-O., Sperfeld, A-D., Sørensen, S. A., Tranebjærg, L., Van Maldergem, L., Watanabe, M., Weber, M. J., Yeung, L. & Savontaus, M-L., 2001, In: European Journal of Human Genetics. 9, 6, p. 431-436

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

  32 Citations (Scopus)

• Screening for mutations and polymorphisms in the genes KCNH2 and KCNE2 encoding the cardiac HERG/MiRP1 ion channel: Implications for acquired and congenital long QT syndrome

  Larsen, L. A., Andersen, P. S., Kanters, J. K., Svendsen, I. H., Jacobsen, J. R., Vuust, J., Wetrell, G., Tranebjærg, L. & Christiansen, M., 2001, In: Clinical Chemistry. 47, 8, p. 1390-1395

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

• Screening for mutations and polymorphisms in the genes KCNH2 and KCNE2 encoding the cardiac HERG/MiRPI ion channel: Implications for acquired and congenital long Q-T syndrome

  Larsen, L. A., Andersen, P. S., Kanters, J., Svendsen, I. H., Jacobsen, J. R., Vuust, J., Wettrell, G., TranebjÆrg, L., Bathen, J. & Christiansen, M., 6 Aug 2001, In: Clinical Chemistry. 47, 8, p. 1390-1395 6 p.

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

  • Ion Channels 100%
  • Mutation 56%
  • Genes 40%
  • Cardiac Arrhythmias 34%
  • Single Nucleotide Polymorphism 33%
  66 Citations (Scopus)
• 2000

  Founder effect in spinal and bulbar muscular atrophy (SBMA) in Scandinavia

  Lund, A., Udd, B., Juvonen, V., Andersen, P. M., Cederquist, K., Ronnevi, L-O., Sistonen, P., Sørensen, S. A., Tranebjærg, L., Wallgren-Pettersson, C. & Savontaus, M-L., 2000, In: European Journal of Human Genetics. 8, 8, p. 631-636

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

  21 Citations (Scopus)
• 1998

  A neocentromere on human chromosome 3 without detectable alpha-satellite DNA forms morphologically normal kinetochores

  Wandall, A., Tranebjaerg, L. & Tommerup, N., 1998, In: Chromosoma. 107, 6-7, p. 359-65 6 p.

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

  • Satellite DNA 100%
  • Chromosomes, Human, Pair 3 86%
  • Kinetochores 86%
  • Human Chromosomes 75%
  • anticentromere antibody 54%
  37 Citations (Scopus)

• Apolipoprotein E alleles in mothers of trisomy 18 conceptuses

  Hansen, C., Bugge, M., Brandt, C. A., Hertz, J. M., Tranebjærg, L., Mikkelsen, M. & Petersen, M. B., 1998, In: Clinical Genetics. 53, 4, p. 321-322

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

  2 Citations (Scopus)

• Machado-Joseph disease in three Scandinavian families

  Løkkegaard, T., Nielsen, J. E., Hasholt, L., Fenger, K., Werdelin, L., Tranebjærg, L., Lauritzen, M., Colding-Jørgensen, E., Grønbech-Jensen, M., Henriksen, O. A. & Sørensen, S. A., 1998, In: Journal of Neurological Sciences. 156, 2, p. 152-157

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

  18 Citations (Scopus)

• Non-disjunction of chromosome 18

  Bugge, M., Collins, A., Petersen, M. B., Fisher, J., Brandt, C. A., Hertz, J. M., Tranebjærg, L., de Lozier-Blanchet, C., Nicolaides, P., Brøndum-Nielsen, K., Morton, N. & Mikkelsen, M., 1998, In: Human Molecular Genetics. 7, 4, p. 661-669

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

  87 Citations (Scopus)
• 1997

  Quantification, by solid-phase minisequencing, of the telomeric and centromeric copies of the survival motor neuron gene in families with spinal muscular atrophy

  Schwarz, M., Sørensen, N., Hansen, F. J., Hertz, J. M., Nørby, S., Tranebjærg, L. & Skovby, F., 1997, In: Human Molecular Genetics. 6, 1, p. 99-104

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

  30 Citations (Scopus)