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The Capital Region of Denmark - a part of Copenhagen University Hospital
  1. 2021
  2. Published

    Clinical utility gene card for oculocutaneous (OCA) and ocular albinism (OA)-an update

    Aamir, A., Kuht, H. J., Grønskov, K., Brooks, B. P. & Thomas, M. G., Oct 2021, In: European journal of human genetics : EJHG. 29, 10, p. 1577-1583 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. E-pub ahead of print

    Genetic disease is a common cause of bilateral childhood cataract in Denmark

    Kessel, L., Bach-Holm, D., Al-Bakri, M., Roos, L., Lund, A. & Grønskov, K., 25 Jun 2021, (E-pub ahead of print) In: Ophthalmic Genetics. p. 1-9 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Published

    Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism

    Kessel, L., Kjer, B., Lei, U., Duno, M. & Grønskov, K., Jun 2021, In: Ophthalmic Genetics. 42, 3, p. 230-238 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Published

    The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement

    Black, G. C., Sergouniotis, P., Sodi, A., Leroy, B. P., Van Cauwenbergh, C., Liskova, P., Grønskov, K., Klett, A., Kohl, S., Taurina, G., Sukys, M., Haer-Wigman, L., Nowomiejska, K., Marques, J. P., Leroux, D., Cremers, F. P. M., De Baere, E., Dollfus, H. & ERN-EYE study group, 20 Mar 2021, In: Orphanet Journal of Rare Diseases. 16, 1, 142.

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. Published
  7. 2020
  8. Published
  9. Published

    upd(20)mat is a rare cause of the Silver-Russell-syndrome-like phenotype: Two unrelated cases and screening of large cohorts

    Hjortshøj, T. D., Sørensen, A. R., Yusibova, M., Hansen, B. M., Dunø, M., Balslev-Harder, M., Grønskov, K., van Hagen, J. M., Polstra, A. M., Eggermann, T., Finken, M. J. J. & Tümer, Z., Jun 2020, In: Clinical Genetics. 97, 6, p. 902-907 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  10. Published

    Distribution of risk alleles in patients with age-related macular degeneration

    Nielsen, M. K., Subhi, Y., Molbech, C. R., Grønskov, K. & Sørensen, T. L., Mar 2020, In: Danish Medical Journal. 67, 3

    Research output: Contribution to journalJournal articleResearchpeer-review

  11. Published
  12. Published

    Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism

    Christesen, H. T., Christensen, L. G., Löfgren, Å. M., Brøndum-Nielsen, K., Svensson, J., Brusgaard, K., Samuelsson, S., Elfving, M., Jonson, T., Grønskov, K., Rasmussen, L., Backman, T., Hansen, L. K., Larsen, A. R., Petersen, H. & Detlefsen, S., Jan 2020, In: European Journal of Medical Genetics. 63, 1, p. 103632

    Research output: Contribution to journalJournal articleResearchpeer-review

  13. Published

    Prevalence and causes of infantile nystagmus in a large population-based Danish cohort

    Hvid, K., Nissen, K. R., Bayat, A., Roos, L., Grønskov, K. & Kessel, L., 2020, In: Acta Ophthalmologica. 98, 5, p. 506-513 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  14. 2019
  15. Published
  16. Published
  17. Published

    Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy

    Jespersgaard, C., Fang, M., Bertelsen, M., Dang, X., Jensen, H., Chen, Y., Bech, N., Dai, L., Rosenberg, T., Zhang, J., Møller, L. B., Tümer, Z., Brøndum-Nielsen, K. & Grønskov, K., 4 Feb 2019, In: Scientific Reports. 9, 1, p. 1219 1219.

    Research output: Contribution to journalJournal articleResearchpeer-review

  18. Published

    A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1

    Grønskov, K., Jespersgaard, C., Bruun, G. H., Harris, P., Brøndum-Nielsen, K., Andresen, B. S. & Rosenberg, T., 24 Jan 2019, In: Scientific Reports. 9, 1, p. 645 645.

    Research output: Contribution to journalJournal articleResearchpeer-review

  19. 2018
  20. Published
  21. Published
  22. Published

    Structural and sequence variants in patients with Silver-Russell syndrome or similar features-Curation of a disease database

    Tümer, Z., López-Hernández, J. A., Netchine, I., Elbracht, M., Grønskov, K., Gede, L. B., Sachwitz, J., den Dunen, J. T. & Eggermann, T., Mar 2018, In: Human Mutation. 39, 3, p. 345-364

    Research output: Contribution to journalJournal articleResearchpeer-review

  23. Published

    Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement

    Brioude, F., Kalish, J. M., Mussa, A., Foster, A. C., Bliek, J., Ferrero, G. B., Boonen, S. E., Cole, T., Baker, R., Bertoletti, M., Cocchi, G., Coze, C., De Pellegrin, M., Hussain, K., Ibrahim, A., Kilby, M. D., Krajewska-Walasek, M., Kratz, C. P., Ladusans, E. J., Lapunzina, P., Le Bouc, Y., Maas, S. M., Macdonald, F., Õunap, K., Peruzzi, L., Rossignol, S., Russo, S., Shipster, C., Skórka, A., Tatton-Brown, K., Tenorio, J., Tortora, C., Grønskov, K., Netchine, I., Hennekam, R. C., Prawitt, D., Tümer, Z., Eggermann, T., Mackay, D. J. G., Riccio, A. & Maher, E. R., 2018, In: Nature reviews. Endocrinology. 14, p. 229–249

    Research output: Contribution to journalReviewResearchpeer-review

  24. 2017
  25. Published

    Diagnosis and management of Silver-Russell syndrome: first international consensus statement

    Wakeling, E. L., Brioude, F., Lokulo-Sodipe, O., O'Connell, S. M., Salem, J., Bliek, J., Canton, A. P. M., Chrzanowska, K. H., Davies, J. H., Dias, R. P., Dubern, B., Elbracht, M., Giabicani, E., Grimberg, A., Grønskov, K., Hokken-Koelega, A. C. S., Jorge, A. A., Kagami, M., Linglart, A., Maghnie, M., Mohnike, K., Monk, D., Moore, G. E., Murray, P. G., Ogata, T., Petit, I. O., Russo, S., Said, E., Toumba, M., Tümer, Z., Binder, G., Eggermann, T., Harbison, M. D., Temple, I. K., Mackay, D. J. G. & Netchine, I., 2 Sep 2017, In: Nature reviews. Endocrinology. 13, 2, p. 105-124

    Research output: Contribution to journalJournal articleResearchpeer-review

  26. Published

    Recent Advances in Imprinting Disorders

    Soellner, L., Begemann, M., Mackay, D. J. G., Grønskov, K., Tümer, Z., Maher, E. R., Temple, I. K., Monk, D., Riccio, A., Linglart, A., Netchine, I. & Eggermann, T., Jan 2017, In: Clinical Genetics. 91, 1, p. 3-13 11 p.

    Research output: Contribution to journalReviewResearchpeer-review

  27. 2016
  28. Published

    Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark

    Hove, M. N., Kilic-Biyik, K. Z., Trotter, A., Grønskov, K., Sander, B., Larsen, M., Carroll, J., Bech-Hansen, T. & Rosenberg, T., 1 Dec 2016, In: Investigative ophthalmology & visual science. 57, 15, p. 6861-6869 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  29. Published

    CYP1B1 Mutations in Individuals With Primary Congenital Glaucoma and Residing in Denmark

    Grønskov, K., Redó-Riveiro, A., Jelveh Sandfeld, L., Zibrandtsen, N., Harris, P., Bach-Holm, D. & Tümer, Z., 4 Nov 2016, In: Journal of Glaucoma. 25, 12, p. 926-930

    Research output: Contribution to journalJournal articleResearchpeer-review

  30. Published

    Congenital Microphthalmia, Anophthalmia and Coloboma among Live Births in Denmark

    Roos, L., Jensen, H., Grønskov, K., Holst, R. & Tümer, Z., Oct 2016, In: Ophthalmic Epidemiology. 23, 5, p. 324-30 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  31. Published

    Usher syndrome in Denmark: mutation spectrum and some clinical observations

    Dad, S., Rendtorff, N. D., Tranebjærg, L., Grønskov, K., Karstensen, H. G., Brox, V., Nilssen, Ø., Roux, A-F., Rosenberg, T., Jensen, H. & Møller, L. B., Sep 2016, In: Molecular Genetics & Genomic Medicine. 4, 5, p. 527-539 13 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  32. Published

    EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome

    Eggermann, K., Bliek, J., Brioude, F., Algar, E., Buiting, K., Russo, S., Tümer, Z., Monk, D., Moore, G., Antoniadi, T., Macdonald, F., Netchine, I., Lombardi, P., Soellner, L., Begemann, M., Prawitt, D., Maher, E. R., Mannens, M., Riccio, A., Weksberg, R., Lapunzina, P., Grønskov, K., Mackay, D. J. & Eggermann, T., 11 May 2016, In: European journal of human genetics : EJHG. 24, p. 1377–1387

    Research output: Contribution to journalJournal articleResearchpeer-review

  33. Published

    Erratum to: Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

    Eggermann, T., de Nanclares, G. P., Maher, E. R., Temple, I. K., Tümer, Z., Monk, D., Mackay, D. J. G., Grønskov, K., Riccio, A., Linglart, A. & Netchine, I., 2016

    Research output: Other contributionResearch

  34. Published

    Feasibilty study on the use of methylation-specific MLPA for the 11p15 region on prenatal samples

    Gede, L. B., Hahnemann, J. M., Tümer, Z., Brøndum-Nielsen, K. & Grønskov, K., 2016, In: Prenatal Diagnosis. 36, 1, p. 100-103

    Research output: Contribution to journalJournal articleResearchpeer-review

  35. Published

    Genome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57

    Bak, M., Boonen, S. E., Dahl, C., Hahnemann, J. M. D., Mackay, D. J. D. G., Tümer, Z., Grønskov, K., Temple, I. K., Guldberg, P. & Tommerup, N., 2016, In: BMC Medical Genetics. 17, p. 29

    Research output: Contribution to journalJournal articleResearchpeer-review

  36. Published

    Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling

    Eggermann, T., Brioude, F., Russo, S., Lombardi, M. P., Bliek, J., Maher, E. R., Larizza, L., Prawitt, D., Netchine, I., Gonzales, M., Grønskov, K., Tümer, Z., Monk, D., Mannens, M., Chrzanowska, K., Walasek, M. K., Begemann, M., Soellner, L., Eggermann, K., Tenorio, J., Nevado, J., Moore, G. E., Mackay, D. J., Temple, K., Gillessen-Kaesbach, G., Ogata, T., Weksberg, R., Algar, E. & Lapunzina, P., 2016, In: European journal of human genetics : EJHG. 24, p. 784-793

    Research output: Contribution to journalJournal articleResearchpeer-review

  37. 2015
  38. Published

    Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

    Eggermann, T., Perez de Nanclares, G., Maher, E. R., Temple, I. K., Tümer, Z., Monk, D., Mackay, D. J. G., Grønskov, K., Riccio, A., Linglart, A. & Netchine, I., 20 Nov 2015, In: Clinical Epigenetics. 7, p. 123

    Research output: Contribution to journalJournal articleResearchpeer-review

  39. Published
  40. Published

    Case report a novel KERA mutation associated with cornea plana and its predicted effect on protein function

    Roos, L., Bertelsen, B., Harris, P., Bygum, A., Jensen, H., Grønskov, K. & Tümer, Z., 2015, In: BMC Medical Genetics. 16, p. 40

    Research output: Contribution to journalJournal articleResearchpeer-review

  41. Published

    Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care

    Eggermann, T., Netchine, I., Temple, I. K., Tümer, Z., Monk, D., Mackay, D., Grønskov, K., Riccio, A., Linglart, A. & Maher, E. R., 2015, In: Clinical Epigenetics. 7, 1, p. 23

    Research output: Contribution to journalJournal articleResearchpeer-review

  42. Published

    Molecular characterization of melanoma cases in denmark suspected of genetic predisposition

    Wadt, K. A. W., Aoude, L. G., Krogh, L., Sunde, L., Bojesen, A., Grønskov, K., Wartacz, N., Ek, J., Andersen, M. T., Andersen, M. K., Borg, Å., Heegaard, S., Kiilgaard, J. F., Hansen, T. V. O., Klein, K., Jönsson, G., Drzewiecki, K. T., Dunø, M., Hayward, N. K. & Gerdes, A-M., 2015, In: P L o S One. 10, 3, p. e0122662

    Research output: Contribution to journalJournal articleResearchpeer-review

  43. 2014
  44. Published
  45. Published

    Mosaicism for c.431_454dup in ARX causes a mild Partington syndrome phenotype

    Grønskov, K., Diness, B., Stahlhut, M., Zilmer, M., Tümer, Z., Bisgaard, A-M. & Brøndum-Nielsen, K., 15 Apr 2014, In: European Journal of Medical Genetics. 57, 6, p. 284-7 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  46. Published

    Retinal vessel diameters decrease with macular ganglion cell layer thickness in autosomal dominant optic atrophy and in healthy subjects

    Rönnbäck, C., Grønskov, K. & Larsen, M., 11 Mar 2014, In: Acta Ophthalmologica. 92, 7, p. 670-74

    Research output: Contribution to journalJournal articleResearchpeer-review

  47. Published

    Fra mental retardering til målrettet behandling ved fragilt X-syndrom

    Jønch, A. E., Timshel, S., Lunding, J., Grønskov, K. & Brøndum-Nielsen, K., 24 Feb 2014, In: Ugeskrift for læger [online]. 176, 9A

    Research output: Contribution to journalJournal articleResearchpeer-review

  48. Published

    A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia

    Roos, L., Fang, M., Dali, C. I., Jensen, H., Christoffersen, N., Wu, B., Zhang, J., Xu, R., Harris, P. H., XU, X., Grønskov, K. & Tümer, Z., 2014, In: Clinical Genetics. 86, p. 276-81

    Research output: Contribution to journalJournal articleResearchpeer-review

  49. Published

    Clinical utility gene card for Oculocutaneous albinism

    Grønskov, K., Brøndum-Nielsen, K., Lorenz, B. & Preising, M. N., 2014, In: European journal of human genetics : EJHG. 22, p. e

    Research output: Contribution to journalJournal articleResearchpeer-review

  50. Published

    Increasing the complexity: new genes and new types of albinism

    Montoliu, L., Grønskov, K., Wei, A-H., Martínez-García, M., Fernández, A., Arveiler, B., Morice-Picard, F., Riazuddin, S., Suzuki, T., Ahmed, Z. M., Rosenberg, T. & Li, W., 2014, In: Pigment Cell & Melanoma Research. 27, 1, p. 11-18

    Research output: Contribution to journalJournal articleResearchpeer-review

  51. 2013
  52. Published

    Genetic testing and counselling in inherited eye disease

    Brøndum-Nielsen, K., Jensen, H., Timshel, S., Grønskov, K. & Larsen, M., 2 Sep 2013, In: Ugeskrift for Laeger. 175, 36, p. 2031-2034 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  53. Published

    Angelman syndrome in Denmark. birth incidence, genetic findings, and age at diagnosis

    Mertz, L. G. B., Christensen, R. N., Vogel, I., Hertz, J. M., Brøndum-Nielsen, K., Grønskov, K. & Østergaard, J. R., Sep 2013, In: American Journal of Medical Genetics. Part A. 161A, 9, p. 2197-203 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  54. Published

    Genomsekventering--klinisk anvendelse

    Hertz, J. M., Gerdes, A-M., Grønskov, K., Thomassen, M. & Vogel, I., 18 Mar 2013, In: Ugeskrift for Laeger. 175, 12, p. 818

    Research output: Contribution to journalJournal articleResearchpeer-review

  55. Published

    Mutations in C10orf11, Encoding a Melanocyte-Differentiation Gene, Cause Autosomal-Recessive Albinism

    Grønskov, K., Dooley, C. M., Ostergaard, E., Kelsh, R. N., Hansen, L., Levesque, M. P., Vilhelmsen, K., Møllgård, K., Stemple, D. L. & Rosenberg, T., 2013, In: American Journal of Human Genetics. 92, 3, p. 415-421

    Research output: Contribution to journalJournal articleResearchpeer-review

  56. Published

    Transient Neonatal Diabetes, ZFP57, and Hypomethylation of Multiple Imprinted Loci: A detailed follow-up

    Boonen, S. E., Mackay, D. J. G., Hahnemann, J. M. D., Docherty, L., Grønskov, K., Lehmann, A., Larsen, L. G., Haemers, A. P., Kockaerts, Y., Dooms, L., Vu, D. C., Ngoc, C. T. B., Nguyen, P. B., Kordonouri, O., Sundberg, F., Dayanikli, P., Puthi, V., Acerini, C., Massoud, A. F., Tümer, Z. & Temple, I. K., 2013, In: Diabetes Care. 36, 3, p. 505-12 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  57. 2012
  58. Published

    Absence of NR2E1 mutations in patients with aniridia

    Corso-Díaz, X., Borrie, A. E., Bonaguro, R., Schuetz, J. M., Rosenberg, T., Jensen, H., Brooks, B. P., Macdonald, I. M., Pasutto, F., Walter, M. A., Grønskov, K., Brooks-Wilson, A. & Simpson, E. M., 2012, In: Molecular Vision. 18, p. 2770-82 13 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  59. Published

    A tapetal-like fundus reflex in a healthy male: evidence against a role in the pathophysiology of retinal degeneration?

    Schatz, P., Bregnhøj, J., Arvidsson, H. S., Sharon, D., Mizrahi-Meissonnier, L., Sander, B., Grønskov, K. & Larsen, M., 2012, In: Molecular Vision. 18, p. 1147-55 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  60. Published

    Den genetiske baggrund for øjenmisdannelserne mikroftalmi og anoftalmi

    Roos, L. S., Grønskov, K., Jensen, H. & Tümer, Z., 2012, In: Ugeskrift for Laeger. 174, 11, p. 713-6 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

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