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Rigshospitalet - a part of Copenhagen University Hospital

Clinical Genetics, 0009-9163

Journal

  1. 2021
  2. E-pub ahead of print

    Severe congenital cutis laxa: Identification of novel homozygous LOX gene variants in two families

    McKenzie, F., Mina, K., Callewaert, B., Beyens, A., Dickinson, J. E., Jevon, G., Papadimitriou, J., Diness, B. R., Steensberg, J. N., Ek, J. & Baynam, G., 18 Apr 2021, (E-pub ahead of print) In: Clinical Genetics.

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. 2020
  4. Published

    Description of a family with X-linked oculo-auriculo-vertebral spectrum associated with polyalanine tract expansion in ZIC3

    Trimouille, A., Tingaud-Sequeira, A., Lacombe, D., Duelund Hjortshøj, T., Kreiborg, S., Buciek Hove, H. & Rooryck, C., Oct 2020, In: Clinical Genetics. 98, 4, p. 384-389 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Published

    Primrose syndrome: Characterization of the phenotype in 42 patients

    Melis, D., Carvalho, D., Barbaro-Dieber, T., Espay, A. J., Gambello, M. J., Gener, B., Gerkes, E., Hitzert, M. M., Hove, H. B., Jansen, S., Jira, P. E., Lachlan, K., Menke, L. A., Narayanan, V., Ortiz, D., Overwater, E., Posmyk, R., Ramsey, K., Rossi, A., Sandoval, R. L., Stumpel, C., Stuurman, K. E., Cordeddu, V., Turnpenny, P., Strisciuglio, P., Tartaglia, M., Unger, S., Waters, T., Turnbull, C. & Hennekam, R. C., Jun 2020, In: Clinical Genetics. 97, 6, p. 890-901 12 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. 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

  7. 2019
  8. Published

    Clinician's guide to genes associated with Rett-like phenotypes - Investigation of a Danish cohort and review of the literature

    Schönewolf-Greulich, B., Bisgaard, A-M., Møller, R. S., Dunø, M., Brøndum-Nielsen, K., Kaur, S., Van Bergen, N. J., Lunke, S., Eggers, S., Jespersgaard, C., Christodoulou, J. & Tümer, Z., 2019, In: Clinical Genetics. 95, 2, p. 221-230 10 p.

    Research output: Contribution to journalReviewpeer-review

  9. Published

    Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements

    Schönewolf-Greulich, B., Bisgaard, A-M., Dunø, M., Jespersgaard, C., Rokkjaer, M., Hansen, L. K., Tsoutsou, E., Sofokleous, C., Topcu, M., Kaur, S., Van Bergen, N. J., Brøndum-Nielsen, K., Larsen, M. J., Sørensen, K. P., Christodoulou, J., Fagerberg, C. R. & Tümer, Z., 2019, In: Clinical Genetics. 95, 3, p. 403-408 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  10. 2018
  11. Published

    Distinguishing pathogenic mutations from background genetic noise in cardiology: The use of large genome databases for genetic interpretation

    Ghouse, J., Skov, M. W., Bigseth, R. S., Ahlberg, G., Kanters, J. K. & Olesen, M. S., 2018, In: Clinical Genetics. 93, 3, p. 459-466

    Research output: Contribution to journalJournal articleResearchpeer-review

  12. Published

    Leucocytes Mutation load Declines with Age in Carriers of the m.3243A>G Mutation. A 10-year Prospective Cohort

    Langdahl, J. H., Larsen, M., Frost, M., Andersen, P. H., Yderstraede, K. B., Vissing, J., Dunø, M., Thomassen, M. & Frederiksen, A. L., 2018, In: Clinical Genetics. 93, 4, p. 925-928

    Research output: Contribution to journalJournal articleResearchpeer-review

  13. Published

    Targeted Gene Sequencing and Whole-Exome Sequencing in Autopsied Fetuses with Prenatally Diagnosed Kidney Anomalies

    Rasmussen, M., Sunde, L., Nielsen, M. L., Ramsing, M., Petersen, A., Hjortshøj, T. D., Olsen, T. E., Tabor, A., Hertz, J. M., Johnsen, I., Sperling, L., Petersen, O. B., Jensen, U. B., Møller, F. G., Petersen, M. B. & Lildballe, D. L., 2018, In: Clinical Genetics. 93, 4, p. 860-69

    Research output: Contribution to journalJournal articleResearchpeer-review

  14. 2017
  15. Published

    A 37-year-old Menkes disease patient-Residual ATP7A activity and early copper administration as key factors in beneficial treatment

    Tümer, Z., Petris, M., Zhu, S., Mercer, J., Bukrinski, J., Bilz, S., Baerlocher, K., Horn, N. & Møller, L. B., Nov 2017, In: Clinical Genetics. 92, 5, p. 548-553 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  16. 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 journalReviewpeer-review

  17. Published
  18. Published
  19. 2016
  20. Published

    Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis

    Boppudi, S., Bögershausen, N., Hove, H. B., Percin, E. F., Aslan, D., Dvorsky, R., Kayhan, G., Li, Y., Cursiefen, C., Tantcheva-Poor, I., Toft, P. B., Bartsch, O., Lissewski, C., Wieland, I., Jakubiczka, S., Wollnik, B., Ahmadian, M. R., Heindl, L. M. & Zenker, M., Oct 2016, In: Clinical Genetics. 90, 4, p. 334-42 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  21. Published

    Mutational and phenotypical spectrum of phenylalanine hydroxylase deficiency in Denmark

    Bayat, A., Yasmeen, S., Lund, A., Nielsen, J. B. & Møller, L. B., Sep 2016, In: Clinical Genetics. 90, 3, p. 247-51

    Research output: Contribution to journalJournal articleResearchpeer-review

  22. Published

    JP-HHT phenotype in Danish patients with SMAD4 mutations

    Jelsig, A. M., Tørring, P. M., Kjeldsen, A. D., Qvist, N., Bojesen, A., Jensen, U. B., Andersen, M. K., Gerdes, A. M., Brusgaard, K. & Ousager, L. B., Jul 2016, In: Clinical Genetics. 90 , 1, p. 55–62

    Research output: Contribution to journalJournal articleResearchpeer-review

  23. Published

    The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome

    Schönewolf-Greulich, B., Tejada, M-I., Stephens, K., Hadzsiev, K., Gauthier, J., Brøndum-Nielsen, K., Pfundt, R., Ravn, K., Maortua, H., Gener, B., Martínez-Bouzas, C., Piton, A., Rouleau, G., Clayton-Smith, J., Kleefstra, T., Bisgaard, A-M. & Tümer, Z., Jun 2016, In: Clinical Genetics. 89, 6, p. 733-8 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  24. Published

    Alpha-mannosidosis: characterization of CNS pathology and correlation between CNS pathology and cognitive function

    Borgwardt, L. G., Danielsen, E. R., Thomsen, C., Månsson, J. E., Taouatas, N., Thuesen, A. M., Olsen, K. J., Fogh, J., Dali, C. I. & Lund, A., Apr 2016, In: Clinical Genetics. 89, 4, p. 489-494

    Research output: Contribution to journalJournal articleResearchpeer-review

  25. Published

    Psychiatric and cognitive symptoms in Huntington's disease are modified by polymorphisms in catecholamine regulating enzyme genes

    Vinther-Jensen, T., Nielsen, T. T., Budtz-Jørgensen, E., Larsen, I. U., Hansen, M. M., Hasholt, L., Hjermind, L. E., Nielsen, J. E. & Nørremølle, A., 2016, In: Clinical Genetics. 89, 3, p. 320-7

    Research output: Contribution to journalJournal articleResearchpeer-review

  26. 2015
  27. Published

    A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma

    Wadt, K. A. W., Aoude, L. G., Johansson, P., Solinas, A., Pritchard, A., Crainic, O., Andersen, M. T., Kiilgaard, J. F., Heegaard, S., Sunde, L., Federspiel, B., Madore, J., Thompson, J. F., McCarthy, S. W., Goodwin, A., Tsao, H., Jönsson, G., Busam, K., Gupta, R., Trent, J. M., Gerdes, A-M., Brown, K. M., Scolyer, R. A. & Hayward, N. K., 2015, In: Clinical Genetics. 88, 3, p. 267-72

    Research output: Contribution to journalJournal articleResearchpeer-review

  28. Published

    Cornelia de Lange Syndrome

    Boyle, M. I., Jespersgaard, C., Brøndum-Nielsen, K., Bisgaard, A-M. & Tümer, Z., 2015, In: Clinical Genetics. 572, 1, p. 2015 Nov 1;572(1):130-4.

    Research output: Contribution to journalJournal articleResearchpeer-review

  29. Published

    Response to Dylan Mordaunt and Alisha McLauchlan

    Boyle, M. & Tümer, Z., 2015, In: Clinical Genetics. 88, 1 , p. 99–100

    Research output: Contribution to journalComment/debateResearchpeer-review

  30. 2014
  31. 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

  32. 2013
  33. Published

    High prevalence of genetic variants previously associated with Brugada syndrome in new exome data

    Risgaard, B., Jabbari, R., Refsgaard, L., Holst, A. G., Haunsø, S., Sadjadieh, A., Winkel, B. G., Olesen, M. S. & Tfelt-Hansen, J., Nov 2013, In: Clinical Genetics. 84, 5, p. 489-95 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  34. Published

    Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease

    Lindquist, S. G., Duno, M., Batbayli, M., Puschmann, A., Braendgaard, H., Mardosiene, S., Svenstrup, K., Pinborg, L. H., Vestergaard, K. F., Hjermind, LE., Stokholm, J., Andersen, B. B., Johannsen, P. & Nielsen, J. E., 2013, In: Clinical Genetics. 83, 3, p. 279–283

    Research output: Contribution to journalJournal articleResearchpeer-review

  35. Published

    Fabry disease in children: agalsidase-beta enzyme replacement therapy

    Borgwardt, L. G., Feldt-Rasmussen, U., Rasmussen, A. K., Ballegaard, M. & Lund, A. M., 2013, In: Clinical Genetics. 83, 5, p. 432-38 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  36. Published

    Osteopathia striata congenita with cranial sclerosis and intellectual disability due to contiguous gene deletions involving the WTX locus

    Holman, S., Morgan, T., Baujat, G., Cormier-Daire, V., Cho, T-J., Lees, M., Samanich, J., Tapon, D., Hove, H. B., Hing, A., Hennekam, R. & Robertson, S., 2013, In: Clinical Genetics. 83, 3, p. 251-256

    Research output: Contribution to journalJournal articleResearchpeer-review

  37. Published

    Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome

    Husu, E., Hove, H. B., Farholt, S., Bille, M., Tranebjaerg, L., Vogel, I. & Kreiborg, S., 2013, In: Clinical Genetics. 83, 2, p. 125-134 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  38. 2012
  39. Published

    Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B

    Halgren, C., Kjaergaard, S., Bak, M., Hansen, C., El-Schich, Z., Anderson, C. M., Henriksen, K. F., Hjalgrim, H., Kirchhoff, E. M., Bijlsma, E. K., Nielsen, M., den Hollander, N. S., Ruivenkamp, C. A. L., Isidor, B., Le Caignec, C., Zannolli, R., Mucciolo, M., Renieri, A., Mari, F., Anderlid, B-M., Andrieux, J., Dieux, A., Tommerup, N. & Bache, I., 2012, In: Clinical Genetics. 82, 3, p. 248-55 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  40. Published

    Deletion of CUL4B leads to concordant phenotype in a monozygotic twin pair

    Ravn, K., Lindquist, S. G., Brøndum-Nielsen, K., Dahm, T. L. & Tümer, Z., 2012, In: Clinical Genetics. 82, 3, p. 292-4 3 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  41. Published

    Inheritance of the chronic myeloproliferative neoplasms. A systematic review

    Ranjan, A., Penninga, E., Jelsig, A., Hasselbalch, H. & Bjerrum, O. W., 2012, In: Clinical Genetics. 83, 2, p. 99–107

    Research output: Contribution to journalReviewpeer-review

  42. Published

    Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9)

    Eiberg, H. R. L., Hansen, L., Korbo, L., Nielsen, I., Svenstrup, K., Bech, S., Pinborg, L. H., Friberg, L., Hjermind, LE., Olsen, O. & Nielsen, J. E., 2012, In: Clinical Genetics. 82, 3, p. 256-263

    Research output: Contribution to journalJournal articleResearchpeer-review

  43. 2011
  44. Published

    Breast cancer after bilateral risk-reducing mastectomy

    Skytte, A-B., Crüger, D. G., Gerster, M., Lænkholm, A-V., Lanng, C., Brøndum-Nielsen, K., Andersen, M. K., Sunde, L. E. M., Kølvraa, S. & Gerdes, A-M. A., 2011, In: Clinical Genetics. 79, 5, p. 431-7 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  45. Published
  46. Published

    RUNX2 analysis of Danish cleidocranial dysplasia families

    Hansen, L., Riis, A. K., Silahtaroglu, A., Hove, H. B., Lauridsen, E., Eiberg, H. R. L. & Kreiborg, S., 2011, In: Clinical Genetics. 79, 3, p. 254-63 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  47. 2010
  48. Published

    Risk-reducing mastectomy and salpingo-oophorectomy in unaffected BRCA mutation carriers: uptake and timing

    Skytte, A-B., Gerdes, A-M., Andersen, M. K., Sunde, L., Brøndum-Nielsen, K., Waldstrøm, M., Kølvraa, S. & Crüger, D., 1 Apr 2010, In: Clinical Genetics. 77, 4, p. 342-9 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  49. 2001
  50. Published

    Cryptic familial t(11;18)(q25;q23) incidentally detected by interphase FISH

    Schultz, L. N., Schmidt, P., Tabor, A., Bryndorf, T., Christensen, B. & Lundsteen, C., Apr 2001, In: Clinical Genetics. 59, 4, p. 279-83 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  51. 1990
  52. Published

    Maternal serum markers in screening for Down syndrome

    Nørgaard-Pedersen, B., Larsen, S. O., Arends, J., Svenstrup, B. & Tabor, A., Jan 1990, In: Clinical Genetics. 37, 1, p. 35-43 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

ID: 7115