Elsebet Østergaard

Elsebet Østergaard

Clinical Associate Professor


  1. 2018
  2. Published

    A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical course. / Grønborg, Sabine; Risom, Lotte; Ek, Jakob; Larsen, Karen Bonde; Scheie, David; Petkov, Yanko; Larsen, Vibeke André; Dunø, Morten; Joensen, Fróði; Østergaard, Elsebet.

    In: European Journal of Human Genetics, Vol. 26, No. 10, 2018, p. 1512-1520.

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Published

    A recurrent de novo CUX2 missense variant associated with intellectual disability, seizures, and autism spectrum disorder. / Barington, Maria; Risom, Lotte; Ek, Jakob; Uldall, Peter; Ostergaard, Elsebet.

    In: European Journal of Human Genetics, Vol. 26, No. 9, 2018, p. 1388-1391.

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Published

    Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency : is riboflavin supplementation effective? / Repp, Birgit M; Mastantuono, Elisa; Alston, Charlotte L; Schiff, Manuel; Haack, Tobias B; Rötig, Agnes; Ardissone, Anna; Lombès, Anne; Catarino, Claudia B; Diodato, Daria; Schottmann, Gudrun; Poulton, Joanna; Burlina, Alberto; Jonckheere, An; Munnich, Arnold; Rolinski, Boris; Ghezzi, Daniele; Rokicki, Dariusz; Wellesley, Diana; Martinelli, Diego; Wenhong, Ding; Lamantea, Eleonora; Ostergaard, Elsebet; Pronicka, Ewa; Pierre, Germaine; Smeets, Hubert J M; Wittig, Ilka; Scurr, Ingrid; de Coo, Irenaeus F M; Moroni, Isabella; Smet, Joél; Mayr, Johannes A; Dai, Lifang; de Meirleir, Linda; Schuelke, Markus; Zeviani, Massimo; Morscher, Raphael J; McFarland, Robert; Seneca, Sara; Klopstock, Thomas; Meitinger, Thomas; Wieland, Thomas; Strom, Tim M; Herberg, Ulrike; Ahting, Uwe; Sperl, Wolfgang; Nassogne, Marie-Cecile; Ling, Han; Fang, Fang; Freisinger, Peter; Van Coster, Rudy; Strecker, Valentina; Taylor, Robert W; Häberle, Johannes; Vockley, Jerry; Prokisch, Holger; Wortmann, Saskia.

    In: Orphanet Journal of Rare Diseases, Vol. 13, 120, 2018.

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Published

    Phenotype-genotype correlations in Leigh syndrome : new insights from a multicentre study of 96 patients. / Sofou, Kalliopi; de Coo, Irenaeus F M; Østergaard, Elsebet; Isohanni, Pirjo; Naess, Karin; De Meirleir, Linda; Tzoulis, Charalampos; Uusimaa, Johanna; Lönnqvist, Tuula; Bindoff, Laurence Albert; Tulinius, Már; Darin, Niklas.

    In: Journal of Medical Genetics, Vol. 55, No. 1, 2018, p. 21-27.

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. 2017
  7. Published

    A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients. / Pronicka, Ewa; Ropacka-Lesiak, Mariola; Trubicka, Joanna; Pajdowska, Magdalena; Linke, Markus; Ostergaard, Elsebet; Saunders, Carol; Horsch, Sandra; van Karnebeek, Clara; Yaplito-Lee, Joy; Distelmaier, Felix; Õunap, Katrin; Rahman, Shamima; Castelle, Martin; Kelleher, John; Baris, Safa; Iwanicka-Pronicka, Katarzyna; Steward, Colin G; Ciara, Elżbieta; Wortmann, Saskia B; Additional individual contributors.

    In: Journal of Inherited Metabolic Disease, Vol. 40, No. 6, 11.2017, p. 853-860.

    Research output: Contribution to journalJournal articleResearchpeer-review

  8. Published

    Diagnostisk exomsekventering til udredning af syndromer. / Østergaard, Elsebet; Risom, Lotte; Ek, Jakob; Grønborg, Sabine; Dunø, Morten; Skovby, Flemming.

    In: Ugeskrift for Læger, Vol. 179, V10160762, 2017.

    Research output: Contribution to journalJournal articleResearchpeer-review

  9. 2016
  10. Published

    The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease. / Ng, Yi Shiau; Alston, Charlotte L; Diodato, Daria; Morris, Andrew D; Ulrick, Nicole; Kmoch, Stanislav; Houštěk, Josef; Martinelli, Diego; Haghighi, Alireza; Atiq, Mehnaz; Gamero, Montserrat Anton; Garcia-Martinez, Elena; Kratochvílová, Hana; Santra, Saikat; Brown, Ruth M; Brown, Garry K; Ragge, Nicola; Monavari, Ahmad; Pysden, Karen; Ravn, Kirstine; Casey, Jillian P; Khan, Arif; Chakrapani, Anupam; Vassallo, Grace; Simons, Cas; McKeever, Karl; O'Sullivan, Siobhan; Childs, Anne-Marie; Østergaard, Elsebet; Vanderver, Adeline; Goldstein, Amy; Vogt, Julie; Taylor, Robert W; McFarland, Robert.

    In: Journal of Medical Genetics, Vol. 53, No. 11, 11.2016, p. 768-775.

    Research output: Contribution to journalJournal articleResearchpeer-review

  11. Published

    Two transgenic mouse models for β-subunit components of succinate-CoA ligase yielding pleiotropic metabolic alterations. / Kacso, Gergely; Ravasz, Dora; Doczi, Judit; Németh, Beáta; Madgar, Ory; Saada, Ann; Ilin, Polina; Miller, Chaya; Ostergaard, Elsebet; Iordanov, Iordan; Adams, Daniel; Vargedo, Zsuzsanna; Araki, Masatake; Araki, Kimi; Nakahara, Mai; Ito, Haruka; Gál, Aniko; Molnár, Mária J; Nagy, Zsolt; Patocs, Attila; Adam-Vizi, Vera; Chinopoulos, Christos.

    In: Biochemical Journal, Vol. 473, No. 20, 15.10.2016, p. 3463-3485.

    Research output: Contribution to journalJournal articleResearchpeer-review

  12. Published

    Hypomyelinating Leukodystrophy due to HSPD1 Mutations : A New Patient. / Kusk, Maria Schioldan; Damgaard, Bodil; Risom, Lotte; Hansen, Bente; Ostergaard, Elsebet.

    In: Neuropediatrics, Vol. 47, No. 5, 10.2016, p. 332-335.

    Research output: Contribution to journalJournal articleResearchpeer-review

  13. Published

    Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1 : phenotype and genotype correlations in 71 patients. / Carrozzo, Rosalba; Verrigni, Daniela; Rasmussen, Magnhild; de Coo, Rene; Amartino, Hernan; Bianchi, Marzia; Buhas, Daniela; Mesli, Samir; Naess, Karin; Born, Alfred Peter; Woldseth, Berit; Prontera, Paolo; Batbayli, Mustafa; Ravn, Kirstine; Joensen, Fróði; Cordelli, Duccio M; Santorelli, Filippo Maria; Tulinius, Mar; Darin, Niklas; Duno, Morten; Jouvencel, Philippe; Burlina, Alberto; Stangoni, Gabriela; Bertini, Enrico; Redonnet-Vernhet, Isabelle; Wibrand, Flemming; Dionisi-Vici, Carlo; Uusimaa, Johanna; Vieira, Paivi; Osorio, Andrés Nascimento; McFarland, Robert; Taylor, Robert W; Holme, Elisabeth; Ostergaard, Elsebet.

    In: Journal of Inherited Metabolic Disease, Vol. 39, No. 2, 03.2016, p. 243-52.

    Research output: Contribution to journalJournal articleResearchpeer-review

  14. Published

    Hearing impairment and renal failure associated with RMND1 mutations. / Ravn, Kirstine; Neland, Mette; Wibrand, Flemming; Duno, Morten; Ostergaard, Elsebet.

    In: American Journal of Medical Genetics. Part A, Vol. 170, No. 1, 01.2016, p. 142-147.

    Research output: Contribution to journalJournal articleResearchpeer-review

  15. Published

    Exercise Intolerance and Myoglobinuria Associated with a Novel Maternally Inherited MT-ND1 Mutation. / Rafiq, Jabin; Duno, Morten; Østergaard, Elsebet; Ravn, Kirstine; Vissing, Christoffer R; Wibrand, Flemming; Vissing, John.

    JIMD Reports. Vol. 25 Springer, 2016. p. 65-70 (JIMD Reports).

    Research output: Chapter in Book/Report/Conference proceedingBook chapterResearchpeer-review

  16. Published

    Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations : Further Cases and Implications for Genetic Counselling. / Grønborg, Sabine; Darin, Niklas; Miranda, Maria J; Damgaard, Bodil; Cayuela, Jorge Asin; Oldfors, Anders; Kollberg, Gittan; Hansen, Thomas V O; Ravn, Kirstine; Wibrand, Flemming; Østergaard, Elsebet.

    JIMD Reports. Vol. 33 2016. p. 69-77 (JIMD Reports).

    Research output: Chapter in Book/Report/Conference proceedingBook chapterResearchpeer-review

  17. 2015
  18. Published

    Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature. / Ostergaard, Elsebet; Weraarpachai, Woranontee; Ravn, Kirstine Johanne Theresia; Born, Alfred Peter; Jønson, Lars; Dunø, Morten; Wibrand, Flemming; Shoubridge, Eric A; Vissing, John.

    In: Journal of Medical Genetics, Vol. 52, No. 3, 03.2015, p. 203-7.

    Research output: Contribution to journalJournal articleResearchpeer-review

  19. Published

    A mitochondrial tRNA(Met) mutation causing developmental delay, exercise intolerance and limb girdle phenotype with onset in early childhood. / Born, Alfred Peter; Duno, Morten; Rafiq, Jabin; Risom, Lotte; Wibrand, Flemming; Østergaard, Elsebet; Vissing, John.

    In: European Journal of Paediatric Neurology, Vol. 19, No. 1, 01.2015, p. 69-71.

    Research output: Contribution to journalJournal articleResearchpeer-review

  20. 2014
  21. Published

    Identification of novel locus at chromosome 3p12.3-q13.31 for autosomal recessive intellectual disability in a consanguineous family. / Dad, S; Ostergaard, E; Wadt, Ka; Lunding, J; Eiberg, H; Møller, Lb.

    In: Clinical Genetics, Vol. 85, No. 4, 04.2014, p. 390-392.

    Research output: Contribution to journalJournal articleResearchpeer-review

  22. 2013
  23. Published

    Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism. / Grønskov, Karen; Dooley, Christopher M; Østergaard, Elsebet; Kelsh, Robert N; Hansen, Lars; Levesque, Mitchell P; Vilhelmsen, Kaj; Møllgård, Kjeld; Stemple, Derek L; Rosenberg, Thomas.

    In: American Journal of Human Genetics, Vol. 92, No. 3, 07.03.2013, p. 415-21.

    Research output: Contribution to journalJournal articleResearchpeer-review

  24. 2010
  25. Published

    A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria. / Østergaard, Elsebet; Schwartz, Marianne; Batbayli, Mustafa; Christensen, Ernst; Hjalmarson, Ola; Kollberg, Gittan; Holme, Elisabeth.

    In: European Journal of Pediatrics, Vol. 169, No. 2, 01.02.2010, p. 201-5.

    Research output: Contribution to journalJournal articleResearchpeer-review

  26. Published

    Identification of a novel locus for a USH3 like syndrome combined with congenital cataract. / Dad, S.; Østergaard, Elsebet; Thykjær, T.; Albrechtsen, Anders; Ravn, Kirstine Johanne Theresia; Rosenberg, T.; Møller, Lisbeth Birk.

    In: Clinical Genetics, Vol. 78, No. 4, 2010, p. 388-397.

    Research output: Contribution to journalJournal articleResearchpeer-review

  27. 2009
  28. Published

    Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder. / Janssen, Rolf J R J; Distelmaier, Felix; Smeets, Roel; Wijnhoven, Tessa; Østergaard, Elsebet; Jaspers, Nicolaas G J; Raams, Anja; Kemp, Stephan; Rodenburg, Richard J T; Willems, Peter H M G; van den Heuvel, Lambert P W J; Smeitink, Jan A M; Nijtmans, Leo G J.

    In: Human Molecular Genetics, Vol. 18, No. 18, 2009, p. 3365-74.

    Research output: Contribution to journalJournal articleResearchpeer-review

  29. 2008
  30. Published

    Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings. / Boonen, Susanne E; Pörksen, Sven; Mackay, Deborah Jg; Oestergaard, Elsebet; Olsen, Birthe; Brøndum-Nielsen, Karen; Temple, I Karen; Hahnemann, Johanne Md.

    In: European Journal of Human Genetics, Vol. 16, No. 4, 2008, p. 453-61.

    Research output: Contribution to journalJournal articleResearchpeer-review

  31. Published

    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.

    In: Cephalalgia, Vol. 28, No. 9, 2008, p. 914-921.

    Research output: Contribution to journalJournal articleResearchpeer-review

  32. 1996
  33. Published

    The susceptibility of dental plaque bacteria to the herbs included in Longo Vital®. / Larsen, T.; Fiehn, N. E.; Østergaard, E.

    In: Microbial Ecology in Health and Disease, Vol. 9, No. 3, 01.05.1996, p. 91-95.

    Research output: Contribution to journalJournal articleResearchpeer-review

ID: 33970574