Elsebet Østergaard
Clinical Associate Professor
- 1996
- Published
The susceptibility of dental plaque bacteria to the herbs included in Longo Vital®
Larsen, Tove, Fiehn, Nils-Erik & Østergaard, Elsebet, 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
- 2005
- Published
Recessive mutations in PTHR1 cause constrasting skeletal dysplasias in Eiken and Blomstrand syndromes
Duchatelet, S., Østergaard, Elsebet, Cortes, Dina, Lemainque, A. & Julier, C., 1 Jan 2005, In: Human Molecular Genetics. 14, 1, p. 1-5 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 2008
- Published
Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings
Boonen, S. E., Pörksen, S., Mackay, D. J., Østergaard, Elsebet, 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
- Published
Screen for CACNA1A and ATP1A2 mutations in sporadic hemiplegic migraine patients
Thomsen, L. L., Østergaard, Elsebet, 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
- 2009
- Published
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, Elsebet, 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
- 2010
- Published
Identification of a novel locus for a USH3 like syndrome combined with congenital cataract
Dad, S., Østergaard, Elsebet, Thykjær, T., Albrechtsen, Anders, Ravn, K. J. T., Rosenberg, T. & Møller, L. B., 2010, In: Clinical Genetics. 78, 4, p. 388-397 10 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria
Østergaard, Elsebet, 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
- 2013
- Published
Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism
Grønskov, K., Dooley, C. M., Østergaard, Elsebet, Kelsh, R. N., Hansen, Lars, Levesque, M. P., Vilhelmsen, K., Møllgård, Kjeld, 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
- 2014
- Published
Identification of novel locus at chromosome 3p12.3-q13.31 for autosomal recessive intellectual disability in a consanguineous family
Dad, S., Østergaard, Elsebet, Wadt, K., Lunding, J., Eiberg, Hans Rudolf Lytchoff & Møller, L., Apr 2014, In: Clinical Genetics. 85, 4, p. 390-392 3 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 2015
- Published
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, Elsebet & Vissing, John, 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
- Published
Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature
Østergaard, Elsebet, Weraarpachai, W., Ravn, K. J. T., Born, A. P., Jønson, L., Dunø, M., Wibrand, F., Shoubridge, E. A. & Vissing, John, Mar 2015, In: Journal of Medical Genetics. 52, 3, p. 203-7 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 2016
- Published
Exercise Intolerance and Myoglobinuria Associated with a Novel Maternally Inherited MT-ND1 Mutation
Rafiq, J., Duno, M., Østergaard, Elsebet, Ravn, K., Vissing, C. R., Wibrand, F. & Vissing, John, 2016, JIMD Reports. Springer, Vol. 25. p. 65-70 (JIMD Reports).Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Research › peer-review
- Published
Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling
Grønborg, S., Darin, N., Miranda, Maria J., Damgaard, B., Cayuela, J. A., Oldfors, A., Kollberg, G., Hansen, T. V. O., Ravn, K., Wibrand, F. & Østergaard, Elsebet, 2016, JIMD Reports. Vol. 33. p. 69-77 9 p. (JIMD Reports).Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Research › peer-review
- Published
Hearing impairment and renal failure associated with RMND1 mutations
Ravn, K., Neland, M., Wibrand, F., Duno, M. & Østergaard, Elsebet, 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
- Published
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 others, , 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
- Published
Hypomyelinating Leukodystrophy due to HSPD1 Mutations: A New Patient
Kusk, M. S., Damgaard, B., Risom, L., Hansen, B. & Østergaard, Elsebet, Oct 2016, In: Neuropediatrics. 47, 5, p. 332-335 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
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 others, , 15 Oct 2016, In: Biochemical Journal. 473, 20, p. 3463-3485 23 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
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 others, , Nov 2016, In: Journal of Medical Genetics. 53, 11, p. 768-775Research output: Contribution to journal › Journal article › Research › peer-review
- 2017
- Published
Diagnostisk exomsekventering til udredning af syndromer
Østergaard, Elsebet, 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
- Published
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 others, , 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
- 2018
- Published
A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical course
Grønborg, S., Risom, L., Ek, J., Larsen, Karen Bonde, Scheie, David, Petkov, Y., Larsen, V. A., Dunø, M., Joensen, F. & Østergaard, Elsebet, 2018, In: European Journal of Human Genetics. 26, 10, p. 1512-1520 9 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
A recurrent de novo CUX2 missense variant associated with intellectual disability, seizures, and autism spectrum disorder
Barington, M., Risom, L., Ek, J., Uldall, P. & Østergaard, Elsebet, 2018, In: European Journal of Human Genetics. 26, 9, p. 1388-1391 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
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 others, , 2018, In: Orphanet Journal of Rare Diseases. 13, 10 p., 120.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients
Sofou, K., de Coo, I. F. M., Østergaard, Elsebet, Isohanni, P., Naess, K., De Meirleir, L., Tzoulis, C., Uusimaa, J., Lönnqvist, T., Bindoff, L. A., Tulinius, M. & Darin, N., 2018, In: Journal of Medical Genetics. 55, 1, p. 21-27 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 2019
- Published
A healthy individual with a homozygous PTCH2 frameshift variant: Are variants of PTCH2 associated with nevoid basal cell carcinoma syndrome?
Altaraihi, M., Wadt, Karin Anna Wallentin, Ek, J., Gerdes, Anne-Marie Axø & Østergaard, Elsebet, 2019, In: Human Genome Variation. 6, 1, 10.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Genomisk medicin til præimplantations-, præ- og postnatal diagnostik
Gerdes, Anne-Marie Axø, Risom, L., Kjærgaard, S. & Østergaard, Elsebet, 2019, In: Ugeskrift for Laeger. 181, 7A, 5 p., V11180756.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Genotype and phenotype classification of 29 patients affected by Krabbe disease
Madsen, A. M. H., Wibrand, F., Lund, A. M., Ek, J., Dunø, M. & Østergaard, Elsebet, Mar 2019, In: JIMD Reports. 46, 1, p. 35-45 11 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 2020
- Published
SUCLA2 mutations cause global protein succinylation contributing to the pathomechanism of a hereditary mitochondrial disease
Gut, P., Matilainen, S., Meyer, J. G., Pällijeff, P., Richard, J., Carroll, C. J., Euro, L., Jackson, C. B., Isohanni, P., Minassian, B. A., Alkhater, R. A., Østergaard, E., Civiletto, G., Parisi, A., Thevenet, J., Rardin, M. J., He, W., Nishida, Y., Newman, J. C., Liu, X. & 6 others, , 2020, In: Nature Communications. 11, 1, 5927.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Mitochondrial dysfunction induced by variation in the non-coding genome – A proposed workflow to improve diagnostics
du Mee, D. J. M., Bak, M., Østergaard, Elsebet & Rasmussen, Lene Juel, 2020, In: Mitochondrion. 53, p. 255-259Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases
Hikmat, O., Naess, K., Engvall, M., Klingenberg, C., Rasmussen, M., Tallaksen, C. M. E., Brodtkorb, E., Østergaard, Elsebet, de Coo, I. F. M., Pias-Peleteiro, L., Isohanni, P., Uusimaa, J., Darin, N., Rahman, S. & Bindoff, L. A., 2020, In: Journal of Inherited Metabolic Disease. 43, 4, p. 726-736 11 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
The impact of gender, puberty, and pregnancy in patients with POLG disease
Hikmat, O., Naess, K., Engvall, M., Klingenberg, C., Rasmussen, M., Tallaksen, C. M. E., Samsonsen, C., Brodtkorb, E., Østergaard, Elsebet, de Coo, R., Pias-Peleteiro, L., Isohanni, P., Uusimaa, J., Darin, N., Rahman, S. & Bindoff, L. A., 2020, In: Annals of Clinical and Translational Neurology. 7, 10, p. 2019-2025 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 2021
- Published
A novel homoplasmic mt-tRNAGlu m.14701C>T variant presenting with a partially reversible infantile respiratory chain deficiency
Lundquist, A. A., Farholt, S., Børresen, M. L., Dunø, M., Wibrand, F., Witting, N. & Østergaard, Elsebet, 2021, In: European Journal of Medical Genetics. 64, 10, 7 p., 104306.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
A novel homozygous variant in C1QBP causes severe IUGR, edema, and cardiomyopathy in two fetuses
Alstrup, M., Vogel, I., Sandager, P., Blechingberg, J., Becher, N. & Østergaard, Elsebet, 2021, In: JIMD Reports. 59, 1, p. 20-25Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Excellent response to asfotase alfa treatment in an adolescent patient with hypophosphatasia
Strandbech, O. S., Lund, Allan Meldgaard & Østergaard, Elsebet, 2021, In: JIMD Reports. 59, 1, p. 10-15Research output: Contribution to journal › Journal article › Research › peer-review
- Published
NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum
den Hollander, B., Rasing, A., Post, M. A., Klein, W. M., Oud, M. M., Brands, M. M., de Boer, L., Engelke, U. F. H., van Essen, P., Fuchs, S. A., Haaxma, C. A., Jensson, B. O., Kluijtmans, L. A. J., Lengyel, A., Lichtenbelt, K. D., Østergaard, E., Peters, G., Salvarinova, R., Simon, M. E. H., Stefansson, K. & 6 others, , 2021, In: Frontiers in Neurology. 12, 668640.Research output: Contribution to journal › Journal article › Research › peer-review
- 2022
- Published
Basal molekylærgenetik
Østergaard, Elsebet, 2022, Medicinsk genetik. FADL's Forlag, p. 15-48Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Communication
- Published
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement
Kaiyrzhanov, R., Mohammed, S. E. M., Maroofian, R., Husain, R. A., Catania, A., Torraco, A., Alahmad, A., Dutra-Clarke, M., Grønborg, S., Sudarsanam, A., Vogt, J., Arrigoni, F., Baptista, J., Haider, S., Feichtinger, R. G., Bernardi, P., Zulian, A., Gusic, M., Efthymiou, S., Bai, R. & 34 others, , 2022, In: American Journal of Human Genetics. 109, 9, p. 1692-1712 21 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy
Magrinelli, F., Cali, E., Braga, V. L., Yis, U., Tomoum, H., Shamseldin, H., Raiman, J., Kernstock, C., Rezende Filho, F. M., Povoas Barsottini, O. G., Taylor, R. W., Ostergaard, E., Tamim, A., Schaeferhoff, K., Ferraz Sallum, J. M., Zaki, M. S., Kok, F., Bhatia, K. P., Wissinger, B., Sergeant, K. & 7 others, , 2022, In: Movement Disorders Clinical Practice. 9, 2, p. 218-228Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease
Zheng, W. Q., Pedersen, S. V., Thompson, K., Bellacchio, E., French, C. E., Munro, B., Pearson, T. S., Vogt, J., Diodato, D., Diemer, T., Ernst, A., Horvath, R., Chitre, M., Ek, J., Wibrand, F., Grange, D. K., Raymond, L., Zhou, X. L., Taylor, R. W. & Østergaard, Elsebet, 2022, In: Human Molecular Genetics. 31, 4, p. 523-534Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders
Levy, M. A., Relator, R., McConkey, H., Pranckeviciene, E., Kerkhof, J., Barat-Houari, M., Bargiacchi, S., Biamino, E., Palomares Bralo, M., Cappuccio, G., Ciolfi, A., Clarke, A., DuPont, B. R., Elting, M. W., Faivre, L., Fee, T., Ferilli, M., Fletcher, R. S., Cherick, F., Foroutan, A. & 72 others, , 2022, In: Human Mutation. 43, 11, p. 1609-1628Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Genetisk variation
Pedersen, Inge Søkilde & Østergaard, Elsebet, 2022, Medicinsk genetik. 3 ed. FADL's Forlag, p. 67-97Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Education
- Published
Kromosomsygdomme
Østergaard, Elsebet, 2022, Medicinsk genetik. FADL's Forlag, p. 423-430Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Education
- Published
Medicinsk genetik
Sunde, Lone (ed.) & Østergaard, Elsebet (ed.), 2022, 3 ed. FADL's Forlag.Research output: Book/Report › Anthology › Communication
- Published
Mitokondriesygdomme
Duno, M. & Østergaard, Elsebet, 2022, Medicinsk genetik. FADL's Forlag, p. 385-392Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Education
- Published
Renal Phenotype in Mitochondrial Diseases: A Multicenter Study
Parasyri, M., Brandstroem, P., Uusimaa, J., Østergaard, Elsebet, Hikmat, O., Isohanni, P., Naess, K., de Coo, I. F. M., Nascimento Osorio, A., Nuutinen, M., Lindberg, C., Bindoff, L. A., Tulinius, M., Darin, N. & Sofou, K., 2022, In: Kidney diseases. 8, 2, 12 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder
Kumble, S. & Undiagnosed Diseases Network, U. D. N., 2022, In: Human Mutation. 43, 2, p. 266-282Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders
Levy, M. A., McConkey, H., Kerkhof, J., Barat-Houari, M., Bargiacchi, S., Biamino, E., Cappuccio, G., Ciolfi, A., Clarke, A., DuPont, B. R., Elting, M. W., Faivre, L., Fee, T., Fletcher, R. S., Cherik, F., Foroutan, A., Friez, M. J., Gervasini, C., Haghshenas, S., Hilton, B. A. & 66 others, , 13 Jan 2022, In: Human Genetics and Genomics Advances. 3, 1, 18 p., 100075.Research output: Contribution to journal › Journal article › Research › peer-review
- 2023
- Published
Cerebral Palsy – Early Diagnosis and Intervention Trial: protocol for the prospective multicentre CP-EDIT study with focus on diagnosis, prognostic factors, and intervention
Hoei-Hansen, C. E., Weber, L., Johansen, M., Fabricius, R., Hansen, J. K., Viuff, A. C. F., Rønde, G., Hahn, G. H., Østergaard, E., Duno, M., Larsen, V. A., Madsen, C. G., Røhder, K., Elvrum, A. K. G., Laugesen, B., Ganz, M., Madsen, K. S., Willerslev-Olsen, M., Debes, N. M., Christensen, J. & 2 others, , 2023, In: BMC Pediatrics. 23, 1, 14 p., 544.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder
Accogli, A., Lin, S. J., Severino, M., Kim, S. H., Huang, K., Rocca, C., Landsverk, M., Zaki, M. S., Al-Maawali, A., Srinivasan, V. M., Al-Thihli, K., Schaefer, G. B., Davis, M., Tonduti, D., Doneda, C., Marten, L. M., Mühlhausen, C., Gomez, M., Lamantea, E., Mena, R. & 39 others, , 2023, In: Genetics in Medicine. 25, 11, 15 p., 100938.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Heterozygous Deletion of Long Noncoding RNA AK127244 Is a Susceptibility Factor for Neurodevelopmental Delay
Coci, E. G., Galesi, O., Morgan, T., Giglio, S., Østergaard, Elsebet & Elia, M., 2023, In: Cytogenetic and Genome Research. 162, 7, p. 365-371 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Homozygous splice variant (c.1741-6G>A) of the COL6A1 gene in three patients with Ullrich congenital muscular dystrophy
Barington, M., Dunø, M., Birkedal, U., Vissing, John, Born, A. P., Krag, T., Hansen, Thomas van Overeem & Østergaard, Elsebet, 2023, In: Neuromuscular Disorders. 33, 7, p. 539-545 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease
Undiagnosed Diseases Network, U. D. N., 2023, In: American Journal of Human Genetics. 110, 8, p. 1394-1413 20 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease
Amarasekera, S. S. C., Hock, D. H., Lake, N. J., Calvo, S. E., Grønborg, S. W., Krzesinski, E. I., Amor, D. J., Fahey, M. C., Simons, C., Wibrand, F., Mootha, V. K., Lek, M., Lunke, S., Stark, Z., Østergaard, Elsebet, Christodoulou, J., Thorburn, D. R., Stroud, D. A. & Compton, A. G., 2023, In: Human Molecular Genetics. 32, 15, p. 2441-2454 14 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study
Björkman, K., Vissing, John, Østergaard, Elsebet, Bindoff, L. A., de Coo, I. F. M., Engvall, M., Hikmat, O., Isohanni, P., Kollberg, G., Lindberg, C., Majamaa, K., Naess, K., Uusimaa, J., Tulinius, M. & Darin, N., 2023, In: Journal of Medical Genetics. 60, 1, p. 65-73 9 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
The postgraduate medical educational climate assessed by the Danish Residency Educational Climate Test (DK-RECT): a validation and cross-sectional observational study
Jacobsen, Rikke Vita Borre, Boor, K., Christensen, Karl Bang, Ung, V. H., Carlsen, Jørn, Kirk, Ole, Dziegiel, Morten Hanefeld, Østergaard, Elsebet, Rochat, Per Bjørnstad, Albrecht-Beste, Elisabeth, Droogh, M., Lapperre, T. S., Scheele, F. & Sorensen, Jette Led , 2023, In: BMC Medical Education. 23, 1, 13 p., 943.Research output: Contribution to journal › Journal article › Research › peer-review
- 2024
- Accepted/In press
Novel Alu insertion in the ZEB2 gene causing Mowat-Wilson syndrome
Barington, M., Bak, M., Kjartansdóttir, K. R., Hansen, Thomas van Overeem, Birkedal, U., Østergaard, Elsebet & Hove, H. B., 2024, (Accepted/In press) In: American Journal of Medical Genetics, Part A.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Prenatal dispositions and genetic analysis of monozygotic female twins with suprasellar cysts and hydrocephalus: A case report
Guldberg, Frederikke, Larsen, C. C., Østergaard, Elsebet, Carlsen, Jonathan Frederik, Juhler, Marianne & Munch, Tina Nørgaard, 2024, In: Child's Nervous System. 40, 3, p. 947-951 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt
Shepherdson, J. L., Hutchison, K., Don, D. W., McGillivray, G., Choi, T. I., Allan, C. A., Amor, D. J., Banka, S., Basel, D. G., Buch, L. D., Carere, D. A., Carroll, R., Clayton-Smith, J., Crawford, A., Dunø, M., Faivre, L., Gilfillan, C. P., Gold, N. B., Gripp, K. W., Hobson, E. & 37 others, , 2024, In: American Journal of Human Genetics. 111, 3, p. 487-508 22 p.Research output: Contribution to journal › Journal article › Research › peer-review
ID: 33970574
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Two transgenic mouse models for β-subunit components of succinate-CoA ligase yielding pleiotropic metabolic alterations
Research output: Contribution to journal › Journal article › Research › peer-review
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133
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A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients
Research output: Contribution to journal › Journal article › Research › peer-review
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70
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Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
Research output: Contribution to journal › Journal article › Research › peer-review
Published