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Rigshospitalet - a part of Copenhagen University Hospital
  1. 2020
  2. Published

    Danish expanded newborn screening is a successful preventive public health programme

    Lund, A., Wibrand, F., Skogstrand, K., Cohen, A., Christensen, M., Jäpelt, R. B., Dunø, M., Skovby, F., Nørgaard-Pedersen, B., Gregersen, N., Andresen, B. S., Olsen, R. K. J. & Hougaard, D., Jan 2020, In : Danish Medical Journal. 67, 1

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. 2018
  4. Published

    The impact of consanguinity on the frequency of inborn errors of metabolism

    Afzal, R. M., Lund, A. M. & Skovby, F., Jun 2018, In : Molecular Genetics and Metabolism Reports. 15, p. 6-10 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. 2017
  6. Published

    Efficacy of Rosuvastatin in Children With Homozygous Familial Hypercholesterolemia and Association With Underlying Genetic Mutations

    Stein, E. A., Dann, E. J., Wiegman, A., Skovby, F., Gaudet, D., Sokal, E., Charng, M-J., Mohamed, M., Luirink, I., Raichlen, J. S., Sundén, M., Carlsson, S. C., Raal, F. J. & Kastelein, J. J. P., 29 Aug 2017, In : Journal of the American College of Cardiology. 70, 9, p. 1162-1170 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  7. Published

    Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities

    Quintana, A. M., Yu, H-C., Brebner, A., Pupavac, M., Geiger, E. A., Watson, A., Castro, V. L., Cheung, W., Chen, S-H., Watkins, D., Pastinen, T., Skovby, F., Appel, B., Rosenblatt, D. S. & Shaikh, T. H., 1 Aug 2017, In : Human Molecular Genetics. 26, 15, p. 2838-2849 12 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  8. Published

    Exome sequencing for syndrome diagnostics

    Østergaard, E., Risom, L., Ek, J., Grønborg, S., Dunø, M. & Skovby, F., 24 Apr 2017, In : Ugeskrift for Laeger. 179, 17, p. V10160762

    Research output: Contribution to journalJournal articleResearchpeer-review

  9. 2015
  10. Published

    Arvelige neurometaboliske sygdomme

    Skovby, F. & Vissing, J., 17 Aug 2015, Klinisk Neurologi og Neurokirurgi. Paulson, O. B., Gjerris, F. & Sørensen, P. S. (eds.). 6 ed. FADL's Forlag, p. 658-667

    Research output: Chapter in Book/Report/Conference proceedingBook chapterEducation

  11. Published

    Medfødte stofskiftesygdomme

    Skovby, F., 14 Aug 2015, Medicinsk Kompendium Lommebog. Schaffalitzky de Muckadell, O. B., Haunsø, S. & Vilstrup, H. (eds.). 5 ed. Nyt Nordisk Forlag Arnold Busck, p. 491-496

    Research output: Chapter in Book/Report/Conference proceedingBook chapterEducation

  12. Published

    DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome

    White, J., Mazzeu, J. F., Hoischen, A., Jhangiani, S. N., Gambin, T., Alcino, M. C., Penney, S., Saraiva, J. M., Hove, H., Skovby, F., Kayserili, H., Estrella, E., Vulto-van Silfhout, A. T., Steehouwer, M., Muzny, D. M., Sutton, V. R., Gibbs, R. A., Lupski, J. R., Brunner, H. G., van Bon, B. W. M., Carvalho, C. M. B. & Baylor-Hopkins Center for Mendelian Genomics, 2 Apr 2015, In : American Journal of Human Genetics. 96, 4, p. 612-22 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  13. Published

    The Danish 22q11 research initiative

    Schmock, H., Vangkilde, A., Larsen, K. M., Fischer, E., Birknow, M. R., Jepsen, J. R. M., Olesen, C., Skovby, F., Plessen, K. J., Mørup, M., Hulme, O., Baaré, W. F. C., Didriksen, M., Siebner, H. R., Werge, T. & Olsen, L., 2015, In : B M C Psychiatry. 15, 1, p. 220

    Research output: Contribution to journalJournal articleResearchpeer-review

  14. 2014
  15. Published

    Genomet i kardiologien

    Bundgaard, H., Diness, B. R., Tfelt-Hansen, J., Henriksen, F. L., Eschen, O., Skovby, F., Havndrup, O., Jensen, H. K. & Tybjærg-Hansen, A., 10 Nov 2014, In : Ugeskrift for læger [online]. 176, 46, p. 2168-72. V06140376

    Research output: Contribution to journalJournal articleResearchpeer-review

  16. Published

    Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

    Baumgartner, M. R., Hörster, F., Dionisi-Vici, C., Haliloglu, G., Karall, D., Chapman, K. A., Huemer, M., Hochuli, M., Assoun, M., Ballhausen, D., Burlina, A., Fowler, B., Grünert, S. C., Grünewald, S., Honzik, T., Merinero, B., Pérez-Cerdá, C., Scholl-Bürgi, S., Skovby, F., Wijburg, F., MacDonald, A., Martinelli, D., Sass, J. O., Valayannopoulos, V. & Chakrapani, A., 2014, In : Orphanet Journal of Rare Diseases. 9, p. 130

    Research output: Contribution to journalJournal articleResearchpeer-review

  17. 2013
  18. Published

    Medfødte stofskiftesygdomme

    Skovby, F., 16 Dec 2013, Medicinsk Kompendium. Schaffalitzky de Muckadell, O. B., Haunsø, S. & Vilstrup, H. (eds.). 18. udgave ed. Nyt Nordisk Forlag Arnold Busck, p. 2310-2333

    Research output: Chapter in Book/Report/Conference proceedingBook chapterCommunication

  19. Published

    Medicinsk genetik

    Skovby, F. & Nordestgaard, B. G., 16 Dec 2013, Medicinsk Kompendium. Schaffalitzky de Muckadell, O. B., Haunsø, S. & Vilstrup, H. (eds.). 18. udgave ed. Nyt Nordisk Forlag Arnold Busck, p. 113-126

    Research output: Chapter in Book/Report/Conference proceedingBook chapterCommunication

  20. Published

    Copper deficiency in patients with cystinosis with cysteamine toxicity

    Besouw, M. T. P., Schneider, J., Janssen, M. C., Greco, M., Emma, F., Cornelissen, E. A., Desmet, K., Skovby, F., Nobili, F., Lilien, M. R., De Paepe, A., Malfait, F., Symoens, S., van den Heuvel, L. P. & Levtchenko, E. N., Sep 2013, In : The Journal of pediatrics. 163, 3, p. 754-60 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  21. Published

    Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes

    Delio, M., Guo, T., McDonald-McGinn, D. M., Zackai, E., Herman, S., Kaminetzky, M., Higgins, A. M., Coleman, K., Chow, C., Jalbrzikowski, M., Jarlbrzkowski, M., Bearden, C. E., Bailey, A., Vangkilde, A., Olsen, L., Olesen, C., Skovby, F., Werge, T. M., Templin, L., Busa, T., Philip, N., Swillen, A., Vermeesch, J. R., Devriendt, K., Schneider, M., Dahoun, S., Eliez, S., Schoch, K., Hooper, S. R., Shashi, V., Samanich, J., Marion, R., van Amelsvoort, T., Boot, E., Klaassen, P., Duijff, S. N., Vorstman, J., Yuen, T., Silversides, C., Chow, E., Bassett, A., Frisch, A., Weizman, A., Gothelf, D., Niarchou, M., van den Bree, M., Owen, M. J., Suñer, D. H., Andreo, J. R., Armando, M., Vicari, S., Digilio, M. C., Auton, A., Kates, W. R., Wang, T., Shprintzen, R. J., Emanuel, B. S. & Morrow, B. E., 7 Mar 2013, In : American Journal of Human Genetics. 92, 3, p. 439-47 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  22. Published

    Penetrance of hypertrophic cardiomyopathy in children and adolescents: a 12-year follow-up study of clinical screening and predictive genetic testing

    Jensen, M. K., Havndrup, O., Christiansen, M., Andersen, P. S., Diness, B., Axelsson, A., Skovby, F., Køber, L. & Bundgaard, H., 1 Jan 2013, In : Circulation (Baltimore). 127, 1, p. 48-54 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  23. Published

    Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2

    Vinther-Jensen, T., Ek, J., Duno, M., Skovby, F., Hjermind, L. E., Nielsen, J. E. & Nielsen, T. T., 2013, In : European Journal of Human Genetics. 21, p. 626-629

    Research output: Contribution to journalJournal articleResearchpeer-review

  24. 2012
  25. Published

    Arvelige stofskiftesygdomme

    Lund, A. & Skovby, F., 2012, Medicinsk genetik. Nørby, S. & Jensen, P. K. A. (eds.). 2 ed. København: FADL's Forlag, p. 201-218

    Research output: Chapter in Book/Report/Conference proceedingBook chapterEducation

  26. Published

    Basisbog i Diagnostiske Fag

    Thomsen, H. S., Dziegiel, M. H. (ed.), Hellebek, A. (ed.), Højgaard, L., Nordestgaard, B. G., Poulsen, H. E., Schrøder, H. D., Skovby, F. & Westh, H., 2012, København.

    Research output: Book/ReportBookEducationpeer-review

  27. Published

    Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland - Experience and development of a routine program for expanded newborn screening

    Lund, A. M., Hougaard, D. M., Simonsen, H., Andresen, B. S., Christensen, M., Dunø, M., Skogstrand, K., Olsen, R. K. J., Jensen, U. G., Cohen, A., Larsen, N. B., Saugmann-Jensen, P., Gregersen, N., Brandt, N. J., Christensen, E., Skovby, F. & Nørgaard-Pedersen, B., 2012, In : Molecular Genetics and Metabolism. 107, 3, p. 281-93 13 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  28. Published

    Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity

    Daniel, P. B., Morgan, T., Alanay, Y., Bijlsma, E., Cho, T-J., Cole, T., Collins, F., David, A., Devriendt, K., Faivre, L., Ikegawa, S., Jacquemont, S., Jesic, M., Krakow, D., Liebrecht, D., Maitz, S., Marlin, S., Morin, G., Nishikubo, T., Nishimura, G., Prescott, T., Scarano, G., Shafeghati, Y., Skovby, F., Tsutsumi, S., Whiteford, M., Zenker, M. & Robertson, S. P., 2012, In : Human Mutation. 33, 4, p. 665-673

    Research output: Contribution to journalJournal articleResearchpeer-review

  29. Published

    Dysmorfologi

    Skovby, F., 2012, Medicinsk genetik. Nørby, S. & Jensen, P. K. A. (eds.). 2 ed. København: FADL's Forlag, p. 219-230

    Research output: Chapter in Book/Report/Conference proceedingBook chapterEducation

  30. Published

    Gonosomal mosaicism for an NF1 deletion in a sperm donor: evidence of the need for coordinated, long-term communication of health information among relevant parties

    Callum, P., Messiaen, L. M., Bower, P. V., Skovby, F., Iger, J., Timshel, S., Sims, C. A. & Falk, R. E., 2012, In : Human Reproduction. 27, 4, p. 1223-6 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  31. Published

    Karnitintransporterdefekt er en arvelig sygdom med høj hyppighed på Færøerne

    Poulsen, S. D., Lund, A. M., Christensen, E. & Skovby, F., 2012, In : Ugeskrift for Laeger. 174, 18, p. 1217-9 3 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  32. Published

    Klinisk genetik

    Skovby, F., Gerdes, A-M. A. & Hertz, J. M., 2012, Basisbog i diagnostiske fag. Thomsen, H. S. (ed.). 1 ed. København: Munksgård Danmark, p. 167-196

    Research output: Chapter in Book/Report/Conference proceedingBook chapterEducation

  33. Published

    MCAD deficiency in Denmark

    Andresen, B. S., Lund, A. M., Hougaard, D. M., Christensen, E., Gahrn, B., Christensen, M., Bross, P. G., Vested, A., Simonsen, H., Skogstrand, K., Olpin, S., Brandt, N. J., Skovby, F., Nørgaard-Pedersen, B. & Gregersen, N., 2012, In : Molecular Genetics and Metabolism. 106, 2, p. 175-88 14 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  34. 2011
  35. Published

    Bedre prognose af cystinose ved behandling med cysteamin og nyretransplantation

    Oczachowska-Kulik, A. E., Lund, A., Skovby, F. & Pedersen, E. B., 2011, In : Ugeskrift for Laeger. 173, 33, p. 1958-62 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  36. Published

    Cysteamine toxicity in patients with cystinosis

    Besouw, M. T. P., Bowker, R., Dutertre, J-P., Emma, F., Gahl, W. A., Greco, M., Lilien, M. R., McKiernan, J., Nobili, F., Schneider, J. A., Skovby, F., van den Heuvel, L. P., Van't Hoff, W. G. & Levtchenko, E. N., 2011, In : Journal of Pediatrics. 159, 6, p. 1004-11 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  37. Published

    Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3

    Hurst, J. A., Jenkins, D., Vasudevan, P. C., Kirchhoff, E. M., Skovby, F., Rieubland, C., Gallati, S., Rittinger, O., Kroisel, P. M., Johnson, D., Biesecker, L. G. & Wilkie, A. O. M., 2011, In : European Journal of Human Genetics. 19, 7, p. 757-62 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  38. 2010
  39. Published

    Clinical and biochemical monitoring of patients with fatty acid oxidation disorders

    Lund, A. M., Skovby, F., Vestergaard, H., Christensen, M. & Christensen, E., 1 Oct 2010, In : Journal of Inherited Metabolic Disease. 33, 5, p. 495-500 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  40. Published

    Paediatric primary care in Europe: variation between countries

    van Esso, D., del Torso, S., Hadjipanayis, A., Biver, A., Jaeger-Roman, E., Wettergren, B., Nicholson, A., Primary-Secondary Working Group (PSWG) of European Academy of Paediatrics (EAP) & Skovby, F., 1 Oct 2010, In : Archives of Disease in Childhood. 95, 10, p. 791-5 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  41. Published

    OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria

    Huizing, M., Dorward, H., Ly, L., Klootwijk, E., Kleta, R., Skovby, F., Pei, W., Feldman, B., Gahl, W. A. & Anikster, Y., 1 Jun 2010, In : Molecular Genetics and Metabolism. 100, 2, p. 149-54 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  42. Published

    22q11-deletionssyndrom

    Olesen, C., Agergaard, P., Boers, M., Farholt, S., Heilmann, C. J., Hvidkjaer, L., Kristensen, K., Lauritsen, M. B., Lunding, J., Nielsen, B. W., Skovby, F., Thrane, N., Vogel, I. & Østergaard, J. R., 29 Mar 2010, In : Ugeskrift for Laeger. 172, 13, p. 1038-46 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  43. Published

    A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency

    Skovby, F., Mudd, S. H. & Gaustadnes, M., 1 Jan 2010, In : Molecular Genetics and Metabolism. 99, 1, p. 1-3 3 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  44. Published

    FGFR3 mutations and the skin: report of a patient with a FGFR3 gene mutation, acanthosis nigricans, hypochondroplasia and hyperinsulinemia and review of the literature

    Blomberg, M., Jeppesen, E. M., Skovby, F. & Benfeldt, E., 1 Jan 2010, In : Dermatology. 220, 4, p. 297-305 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  45. Published

    Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome

    Vega, H., Trainer, A. H., Gordillo, M., Crosier, M., Kayserili, H., Skovby, F., Uzielli, M. L. G., Schnur, R. E., Manouvrier, S., Blair, E., Hurst, J. A., Forzano, F., Meins, M., Simola, M. K., Raas-Rothschild, A., Hennekam, R. C. M. & Jabs, E. W., 1 Jan 2010, In : Journal of Medical Genetics. 47, 1, p. 30-7 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  46. Published

    Arvelige neurometaboliske sygdomme

    Skovby, F. & Vissing, J., 2010, Klinisk neurologi og neurokirurgi. Gjerris, F., Paulson, O. B. & Sørensen, P. S. (eds.). 5 ed. FADL's Forlag, p. 555-564 10 p.

    Research output: Chapter in Book/Report/Conference proceedingBook chapterEducation

  47. Published

    Medfødte stofskiftesygdomme

    Skovby, F., 2010, Medicinsk Kompendium Lommebog. Schaffalitzky de Muckadell, O. B., Haunsø, S. & Vilstrup, H. (eds.). 4 ed. Nyt Nordisk Forlag Arnold Busck, p. 517-522 6 p.

    Research output: Chapter in Book/Report/Conference proceedingBook chapterEducation

  48. 2005
  49. Published

    Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations

    Rendtorff, N. D., Bjerregaard, B., Frödin, M., Kjaergaard, S., Hove, H., Skovby, F., Brøndum-Nielsen, K., Schwartz, M. & Danish Tuberous Sclerosis Group, Oct 2005, In : Human Mutation. 26, 4, p. 374-83 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  50. 1998
  51. Published

    Folate and neural tube defects. Recommendations from a Danish working group

    Rasmussen, L. B., Andersen, N. L., Andersson, G., Lange, A. P., Rasmussen, K., Skak-Iversen, L., Skovby, F. & Ovesen, L., Apr 1998, In : Danish Medical Journal. 45, 2, p. 213-7 5 p.

    Research output: Contribution to journalReviewResearchpeer-review

  52. Published

    Collagen-derived markers of bone metabolism in osteogenesis imperfecta

    Lund, A. M., Hansen, M., Kollerup, G. B., Juul, A., Teisner, B. & Skovby, F., 1998, In : Acta paediatrica. 87, 11, p. 1131-7 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

ID: 8950