Elsebet Østergaard

Research output

Research output per year 1996 2016 2017 2018 2018

• 21 Journal article
• 2 Book chapter

Research output per year

Research output per year

Search results

• 2018

  A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical course

  Grønborg, S., Risom, L., Ek, J., Larsen, K. B., Scheie, D., Petkov, Y., Larsen, V. A., Dunø, M., Joensen, F. & Østergaard, E., 2018, In: European Journal of Human Genetics. 26, 10, p. 1512-1520 9 p.

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

  • Brain Diseases 100%
  • Tubulin 48%
  • Microtubules 29%
  • Malformations of Cortical Development 20%
  • Phenotype 18%
  3 Citations (Scopus)

• A recurrent de novo CUX2 missense variant associated with intellectual disability, seizures, and autism spectrum disorder

  Barington, M., Risom, L., Ek, J., Uldall, P. & Ostergaard, E., 1 Sept 2018, In: European Journal of Human Genetics. 26, 9, p. 1388-1391 4 p.

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

  • Autism Spectrum Disorder 100%
  • Intellectual Disability 90%
  • Seizures 74%
  • Whole Exome Sequencing 28%
  • Nerve Tissue 27%
  2 Citations (Scopus)

• Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

  Repp, B. M., Mastantuono, E., Alston, C. L., Schiff, M., Haack, T. B., Rötig, A., Ardissone, A., Lombès, A., Catarino, C. B., Diodato, D., Schottmann, G., Poulton, J., Burlina, A., Jonckheere, A., Munnich, A., Rolinski, B., Ghezzi, D., Rokicki, D., Wellesley, D., Martinelli, D., & 37 othersWenhong, D., Lamantea, E., Ostergaard, E., Pronicka, E., Pierre, G., Smeets, H. J. M., Wittig, I., Scurr, I., de Coo, I. F. M., Moroni, I., Smet, J., Mayr, J. A., Dai, L., de Meirleir, L., Schuelke, M., Zeviani, M., Morscher, R. J., McFarland, R., Seneca, S., Klopstock, T., Meitinger, T., Wieland, T., Strom, T. M., Herberg, U., Ahting, U., Sperl, W., Nassogne, M-C., Ling, H., Fang, F., Freisinger, P., Van Coster, R., Strecker, V., Taylor, R. W., Häberle, J., Vockley, J., Prokisch, H. & Wortmann, S., 19 Jul 2018, In: Orphanet Journal of Rare Diseases. 13, 10 p., 120.

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

  • Riboflavin Deficiency 100%
  • Acyl-CoA Dehydrogenase 93%
  • Molecular Biology 48%
  • Riboflavin 13%
  • Cardiomyopathies 10%
  18 Citations (Scopus)

  27 Downloads (Pure)

• Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients

  Sofou, K., de Coo, I. F. M., Østergaard, E., Isohanni, P., Naess, K., De Meirleir, L., Tzoulis, C., Uusimaa, J., Lönnqvist, T., Bindoff, L. A., Tulinius, M. & Darin, N., Jan 2018, In: Journal of Medical Genetics. 55, 1, p. 21-27 7 p.

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

  • Leigh Disease 100%
  • Genetic Association Studies 70%
  • Multicenter Studies 58%
  • Mitochondrial Diseases 20%
  • Mitochondrial Proton-Translocating ATPases 13%
  19 Citations (Scopus)
• 2017

  A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients

  Pronicka, E., Ropacka-Lesiak, M., Trubicka, J., Pajdowska, M., Linke, M., Ostergaard, E., Saunders, C., Horsch, S., van Karnebeek, C., Yaplito-Lee, J., Distelmaier, F., Õunap, K., Rahman, S., Castelle, M., Kelleher, J., Baris, S., Iwanicka-Pronicka, K., Steward, C. G., Ciara, E., Wortmann, S. B., & 1 othersAdditional individual contributors, 1 Nov 2017, In: Journal of Inherited Metabolic Disease. 40, 6, p. 853-860 8 p.

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

  • Labor Presentation 100%
  • 3-Methylglutaconic Aciduria 59%
  • Neutropenia 32%
  • Age of Onset 30%
  • Cataract 29%
  5 Citations (Scopus)

  43 Downloads (Pure)

• Diagnostisk exomsekventering til udredning af syndromer

  Østergaard, E., Risom, L., Ek, J., Grønborg, S., Dunø, M. & Skovby, F., 2017, In: Ugeskrift for Læger. 179, 5 p., V10160762.

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

• Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling

  Grønborg, S., Darin, N., Miranda, M. J., Damgaard, B., Cayuela, J. A., Oldfors, A., Kollberg, G., Hansen, T. V. O., Ravn, K., Wibrand, F. & Østergaard, E., 2017, JIMD Reports. Vol. 33. p. 69-77 9 p. (JIMD Reports).

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

  • Leukoencephalopathies 100%
  • Genetic Counseling 82%
  • Islet cell tumor syndrome 43%
  • Paraganglioma 42%
  • Mutation 42%
  10 Citations (Scopus)
• 2016

  Exercise Intolerance and Myoglobinuria Associated with a Novel Maternally Inherited MT-ND1 Mutation

  Rafiq, J., Duno, M., Østergaard, E., Ravn, K., Vissing, C. R., Wibrand, F. & Vissing, J., 2016, JIMD Reports. Springer, Vol. 25. p. 65-70 (JIMD Reports).

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

  • Myoglobinuria 100%
  • Maternal Inheritance 84%
  • Mutation 37%
  • Genes 26%
  • Recurrent Myoglobinuria 22%
  3 Citations (Scopus)

• Hearing impairment and renal failure associated with RMND1 mutations

  Ravn, K., Neland, M., Wibrand, F., Duno, M. & Ostergaard, E., 1 Jan 2016, In: American Journal of Medical Genetics. Part A. 170, 1, p. 142-147 6 p.

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

  • Hearing Loss 100%
  • Renal Insufficiency 92%
  • Electron Transport 76%
  • Siblings 63%
  • Mutation 58%
  9 Citations (Scopus)

• Hypomyelinating Leukodystrophy due to HSPD1 Mutations: A New Patient

  Kusk, M. S., Damgaard, B., Risom, L., Hansen, B. & Ostergaard, E., 1 Oct 2016, In: Neuropediatrics. 47, 5, p. 332-335 4 p.

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

  • Pelizaeus-Merzbacher Disease 100%
  • Chaperonin 60 57%
  • Genetic Databases 53%
  • Leukodystrophy, Hypomyelinating, 4 50%
  • Mitochondrial Proteins 46%
  6 Citations (Scopus)

• Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients

  Carrozzo, R., Verrigni, D., Rasmussen, M., de Coo, R., Amartino, H., Bianchi, M., Buhas, D., Mesli, S., Naess, K., Born, A. P., Woldseth, B., Prontera, P., Batbayli, M., Ravn, K., Joensen, F., Cordelli, D. M., Santorelli, F. M., Tulinius, M., Darin, N., Duno, M., & 14 othersJouvencel, P., Burlina, A., Stangoni, G., Bertini, E., Redonnet-Vernhet, I., Wibrand, F., Dionisi-Vici, C., Uusimaa, J., Vieira, P., Osorio, A. N., McFarland, R., Taylor, R. W., Holme, E. & Ostergaard, E., 1 Mar 2016, In: Journal of Inherited Metabolic Disease. 39, 2, p. 243-52 10 p.

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

  • Succinate-CoA Ligases 100%
  • Genetic Association Studies 59%
  • Mutation 31%
  • Missense Mutation 10%
  • Methylmalonic Acid 9%
  38 Citations (Scopus)

• The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease

  Ng, Y. S., Alston, C. L., Diodato, D., Morris, A. D., Ulrick, N., Kmoch, S., Houštěk, J., Martinelli, D., Haghighi, A., Atiq, M., Gamero, M. A., Garcia-Martinez, E., Kratochvílová, H., Santra, S., Brown, R. M., Brown, G. K., Ragge, N., Monavari, A., Pysden, K., Ravn, K., & 14 othersCasey, J. P., Khan, A., Chakrapani, A., Vassallo, G., Simons, C., McKeever, K., O'Sullivan, S., Childs, A-M., Østergaard, E., Vanderver, A., Goldstein, A., Vogt, J., Taylor, R. W. & McFarland, R., 1 Nov 2016, In: Journal of Medical Genetics. 53, 11, p. 768-775

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

  • Cell Nucleus Division 100%
  • Mitochondrial Diseases 86%
  • Nuclear Proteins 71%
  • Molecular Biology 56%
  • Kidney 37%
  18 Citations (Scopus)

• Two transgenic mouse models for β-subunit components of succinate-CoA ligase yielding pleiotropic metabolic alterations

  Kacso, G., Ravasz, D., Doczi, J., Németh, B., Madgar, O., Saada, A., Ilin, P., Miller, C., Ostergaard, E., Iordanov, I., Adams, D., Vargedo, Z., Araki, M., Araki, K., Nakahara, M., Ito, H., Gál, A., Molnár, M. J., Nagy, Z., Patocs, A., & 2 othersAdam-Vizi, V. & Chinopoulos, C., 15 Oct 2016, In: Biochemical Journal. 473, 20, p. 3463-3485 23 p.

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

  • Succinate-CoA Ligases 100%
  • Carnitine 76%
  • Transgenic Mice 50%
  • Heterozygote 49%
  • Metabolic 45%
  12 Citations (Scopus)

  68 Downloads (Pure)
• 2015

  A mitochondrial tRNA(Met) mutation causing developmental delay, exercise intolerance and limb girdle phenotype with onset in early childhood

  Born, A. P., Duno, M., Rafiq, J., Risom, L., Wibrand, F., Østergaard, E. & Vissing, J., 1 Jan 2015, In: European Journal of Paediatric Neurology. 19, 1, p. 69-71 3 p.

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

  • RNA, Transfer, Met 100%
  • Extremities 47%
  • Muscle Weakness 45%
  • Mitochondrial DNA 45%
  • Exercise 41%
  9 Citations (Scopus)

• Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature

  Ostergaard, E., Weraarpachai, W., Ravn, K. J. T., Born, A. P., Jønson, L., Dunø, M., Wibrand, F., Shoubridge, E. A. & Vissing, J., Mar 2015, In: Journal of Medical Genetics. 52, 3, p. 203-7 5 p.

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

  • Cytochrome-c Oxidase Deficiency 100%
  • Oxidoreductases 57%
  • Obesity 43%
  • Mutation 34%
  • Holoenzymes 23%
  32 Citations (Scopus)
• 2014

  Identification of novel locus at chromosome 3p12.3-q13.31 for autosomal recessive intellectual disability in a consanguineous family

  Dad, S., Ostergaard, E., Wadt, K., Lunding, J., Eiberg, H. & Møller, L., Apr 2014, In: Clinical Genetics. 85, 4, p. 390-392 3 p.

  Research output: Contribution to journal › Journal article › Research › peer-review
• 2013

  Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism

  Grønskov, K., Dooley, C. M., Østergaard, E., Kelsh, R. N., Hansen, L., Levesque, M. P., Vilhelmsen, K., Møllgård, K., Stemple, D. L. & Rosenberg, T., 7 Mar 2013, In: American Journal of Human Genetics. 92, 3, p. 415-21 7 p.

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

  • Albinism 100%
  • Melanocytes 74%
  • Mutation 36%
  • Nonsense Codon 29%
  • Denmark 27%
  64 Citations (Scopus)
• 2010

  A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria

  Østergaard, E., Schwartz, M., Batbayli, M., Christensen, E., Hjalmarson, O., Kollberg, G. & Holme, E., 1 Feb 2010, In: European Journal of Pediatrics. 169, 2, p. 201-5 5 p.

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

  • Methylmalonic acidemia 100%
  • Mitochondrial DNA 68%
  • Missense Mutation 67%
  • Fatal Infantile Lactic Acidosis 47%
  • Succinate-CoA Ligases 38%
  40 Citations (Scopus)

• Identification of a novel locus for a USH3 like syndrome combined with congenital cataract

  Dad, S., Østergaard, E., Thykjær, T., Albrechtsen, A., Ravn, K. J. T., Rosenberg, T. & Møller, L. B., Oct 2010, In: Clinical Genetics. 78, 4, p. 388-397 10 p.

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

  • Usher Syndromes 100%
  • Autosomal Recessive 48 Deafness 74%
  • Cataract 60%
  • Deaf-Blind Disorders 51%
  • Retinitis Pigmentosa 39%
  7 Citations (Scopus)
• 2009

  Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder

  Janssen, R. J. R. J., Distelmaier, F., Smeets, R., Wijnhoven, T., Østergaard, E., Jaspers, N. G. J., Raams, A., Kemp, S., Rodenburg, R. J. T., Willems, P. H. M. G., van den Heuvel, L. P. W. J., Smeitink, J. A. M. & Nijtmans, L. G. J., 2009, In: Human Molecular Genetics. 18, 18, p. 3365-74 9 p.

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

  • Gene Deletion 100%
  • human NDUFAF2 protein 78%
  • DNA Repair 56%
  • Fatty Acids 52%
  • Mitochondrial Encephalomyopathies 47%
  23 Citations (Scopus)
• 2008

  Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings

  Boonen, S. E., Pörksen, S., Mackay, D. J., Oestergaard, E., Olsen, B., Brøndum-Nielsen, K., Temple, I. K. & Hahnemann, J. M., 2008, In: European Journal of Human Genetics. 16, 4, p. 453-61 8 p.

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

  • Methylation 100%
  • Diabetes Mellitus 87%
  • Mothers 70%
  • Genetic Counseling 60%
  • Oocytes 51%
  41 Citations (Scopus)

• Screen for CACNA1A and ATP1A2 mutations in sporadic hemiplegic migraine patients

  Thomsen, L. L., Oestergaard, E., Bjornsson, A., Stefansson, H., Fasquel, A. C., Gulcher, J., Stefansson, K. & Olesen, J., 2008, In: Cephalalgia. 28, 9, p. 914-921 7 p.

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

  35 Citations (Scopus)
• 1996

  The susceptibility of dental plaque bacteria to the herbs included in Longo Vital^®

  Larsen, T., Fiehn, N. E. & Østergaard, E., 1 May 1996, In: Microbial Ecology in Health and Disease. 9, 3, p. 91-95 5 p.

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

  • Dental Plaque 100%
  • Capsicum 85%
  • Bacteria 52%
  • Tablets 35%
  • Mentha piperita 31%
  8 Citations (Scopus)