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The Capital Region of Denmark - a part of Copenhagen University Hospital

American Journal of Medical Genetics, Part A, 1552-4825

Journal

  1. 2020
  2. Published

    Clinical characteristics and quality of life, depression, and anxiety in adults with neurofibromatosis type 1: A nationwide study

    Doser, K., Andersen, E. W., Kenborg, L., Dalton, S. O., Jepsen, J. R. M., Krøyer, A., Østergaard, J., Hove, H., Sørensen, S. A., Johansen, C., Mulvihill, J., Winther, J. F. & Bidstrup, P. E., Jul 2020, In : American Journal of Medical Genetics. Part A. 182, 7, p. 1704-1715 12 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. 2019
  4. Published

    Safety of switching to Migalastat from enzyme replacement therapy in Fabry disease: Experience from the Phase 3 ATTRACT study

    Hughes, D. A., Nicholls, K., Sunder-Plassmann, G., Jovanovic, A., Feldt-Rasmussen, U., Schiffmann, R., Giugliani, R., Jain, V., Viereck, C., Castelli, J. P., Skuban, N., Barth, J. A. & Bichet, D. G., Jun 2019, In : American Journal of Medical Genetics. Part A. 179, 6, p. 1069-1073 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. 2018
  6. Published

    First reported adult patient with TARP syndrome: A case report

    Højland, A. T., Lolas, I., Okkels, H., Lautrup, C. K., Diness, B. R., Petersen, M. B. & Nielsen, I. K., Dec 2018, In : American Journal of Medical Genetics. Part A. 176, 12, p. 2915-2918 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  7. Published

    Ocular albinism with infertility and late-onset sensorineural hearing loss

    Fabian-Jessing, B. K., Vestergaard, E. M., Plomp, A. S., Bergen, A. A., Dreschler, W. A., Duno, M., Winiarska, B. S., Neumann, L., Gaihede, M., Vorum, H. & Petersen, M. B., Jul 2018, In : American Journal of Medical Genetics. Part A. 176, 7, p. 1587-1593 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  8. Published

    A new mutation in the C-terminal end of TTC37 leading to a mild form of syndromic diarrhea/tricho-hepato-enteric syndrome in seven patients from two families

    Fabre, A., Petit, L-M., Hansen, L. F., Wewer, A. V., Esteve, C., Chaix, C., Bourgeois, P., Badens, C. & Paerregaard, A., 1 Mar 2018, In : American Journal of Medical Genetics, Part A. 176, 3, p. 727-732

    Research output: Contribution to journalJournal articleResearchpeer-review

  9. 2017
  10. Published

    Stakeholders in psychiatry and their attitudes toward receiving pertinent and incident findings in genomic research

    Sundby, A., Boolsen, M. W., Burgdorf, K. S., Ullum, H., Hansen, T. F., Middleton, A. & Mors, O., Oct 2017, In : American Journal of Medical Genetics, Part A. 173, 10, p. 2649-2658 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  11. Published

    von Hippel-Lindau development in children and adolescents

    Launbjerg, K., Bache, I., Galanakis, M., Bisgaard, M. L. & Binderup, M. L. M., Sep 2017, In : American Journal of Medical Genetics, Part A. 173, 9, p. 2381-2394 14 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  12. Published

    Phenotypes and genotypes in individuals with SMC1A variants

    Huisman, S., Mulder, P. A., Redeker, E., Bader, I., Bisgaard, A-M., Brooks, A., Cereda, A., Cinca, C., Clark, D., Cormier-Daire, V., Deardorff, M. A., Diderich, K., Elting, M., van Essen, A., FitzPatrick, D., Gervasini, C., Gillessen-Kaesbach, G., Girisha, K. M., Hilhorst-Hofstee, Y., Hopman, S., Horn, D., Isrie, M., Jansen, S., Jespersgaard, C., Kaiser, F. J., Kaur, M., Kleefstra, T., Krantz, I. D., Lakeman, P., Landlust, A., Lessel, D., Michot, C., Moss, J., Noon, S. E., Oliver, C., Parenti, I., Pie, J., Ramos, F. J., Rieubland, C., Russo, S., Selicorni, A., Tümer, Z., Vorstenbosch, R., Wenger, T. L., van Balkom, I., Piening, S., Wierzba, J. & Hennekam, R. C., Aug 2017, In : American Journal of Medical Genetics, Part A. 173, 8, p. 2108-2125 18 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  13. 2016
  14. Published

    17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature

    Rasmussen, M., Vestergaard, E. M., Graakjaer, J., Petkov, Y., Bache, I., Fagerberg, C., Kibaek, M., Svaneby, D., Petersen, O. B., Brasch-Andersen, C. & Sunde, L., Nov 2016, In : American Journal of Medical Genetics, Part A. 170, 11, p. 2934-2942 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  15. Published

    Further delineation of facioaudiosymphalangism syndrome: Description of a family with a novel NOG mutation and without hearing loss

    Bayat, A., Fijalkowski, I., Nygaard, T., Abdulmunem, S. A., van den Ende, J. & Van Hul, W., Jun 2016, In : American Journal of Medical Genetics, Part A. 170, 6, p. 1479-84 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  16. Published

    Hearing impairment and renal failure associated with RMND1 mutations

    Ravn, K., Neland, M., Wibrand, F., Duno, M. & Ostergaard, E., 2016, In : American Journal of Medical Genetics. Part A. 170, 1, p. 142-147

    Research output: Contribution to journalJournal articleResearchpeer-review

  17. 2015
  18. Published
  19. Published

    A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

    Terhal, P. A., Nievelstein, R. J. A. J., Verver, E. J. J., Topsakal, V., van Dommelen, P., Hoornaert, K., Le Merrer, M., Zankl, A., Simon, M. E. H., Smithson, S. F., Marcelis, C., Kerr, B., Clayton-Smith, J., Kinning, E., Mansour, S., Elmslie, F., Goodwin, L., van der Hout, A. H., Veenstra-Knol, H. E., Herkert, J. C., Lund, A. M., Hennekam, R. C. M., Mégarbané, A., Lees, M. M., Wilson, L. C., Male, A., Hurst, J., Alanay, Y., Annerén, G., Betz, R. C., Bongers, E. M. H. F., Cormier-Daire, V., Dieux, A., David, A., Elting, M. W., van den Ende, J., Green, A., van Hagen, J. M., Hertel, N. T., Holder-Espinasse, M., den Hollander, N., Homfray, T., Hove, H. D., Price, S., Raas-Rothschild, A., Rohrbach, M., Schroeter, B., Suri, M., Thompson, E. M., Tobias, E. S., Toutain, A., Vreeburg, M., Wakeling, E., Knoers, N. V., Coucke, P. & Mortier, G. R., Mar 2015, In : American Journal of Medical Genetics. Part A. 167, 3, p. 461-75 15 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  20. Published

    Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion

    Chatron, N., Haddad, V., Andrieux, J., Désir, J., Boute, O., Dieux, A., Baumann, C., Drunat, S., Gérard, M., Bonnet, C., Leheup, B., Till, M., Rossi, M., Flori, E., Alembik, Y., Stewart, H., McParland, J., Bernardini, L., Castelluccio, P., Roos, L., Tümer, Z., Fagan, K., Hackett, A., Bain, N., van Haeringen, A., Ruivenkamp, C., Benzacken, B., Sanlaville, D., Edery, P., Aboura, A. & Schluth-Bolard, C., 25 Feb 2015, In : American Journal of Medical Genetics. Part A. 167, 5, p. 1008-17

    Research output: Contribution to journalJournal articleResearchpeer-review

  21. 2014
  22. Published

    Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures

    Thevenon, J., Monnier, N., Callier, P., Dieterich, K., Francoise, M., Montgomery, T., Kjaergaard, S., Neas, K., Dixon, J., Dahm, T. L., Huet, F., Ragon, C., Mosca-Boidron, A-L., Marle, N., Duplomb, L., Aubriot-Lorton, M-H., Mugneret, F., Vokes, S. A., Tucker, H. W., Lunardi, J., Faivre, L., Jouk, P. S. & Thauvin-Robinet, C., Dec 2014, In : American Journal of Medical Genetics. Part A. 164A, 12, p. 3027-34 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  23. Published

    A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes

    Bartholdi, D., Stray-Pedersen, A., Azzarello-Burri, S., Kibaek, M., Kirchhoff, E. M., Oneda, B., Rødningen, O., Schmitt-Mechelke, T., Rauch, A. & Kjaergaard, S., May 2014, In : American Journal of Medical Genetics. Part A. 164A, 5, p. 1277-83 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  24. Published

    Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects

    Valencia, M., Caparrós-Martin, J. A., Sirerol-Piquer, M. S., García-Verdugo, J. M., Martínez-Glez, V., Lapunzina, P., Temtamy, S., Aglan, M., Lund, A. M., Nikkels, P. G. J., Ruiz-Perez, V. L. & Ostergaard, E., May 2014, In : American Journal of Medical Genetics. Part A. 164A, 5, p. 1143-50 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  25. Published

    Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations

    Vandersteen, A. M., Lund, A. M., Ferguson, D. J. P., Sawle, P., Pollitt, R. C., Holder, S. E., Wakeling, E., Moat, N. & Pope, F. M., Feb 2014, In : American Journal of Medical Genetics. Part A. 164, 2, p. 386-91 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  26. 2013
  27. A description of a fetal syndrome associated with HNF1B mutation and a wide intrafamilial disease variability

    Rasmussen, M., Ramsing, M., Petersen, O. B., Vogel, I. & Sunde, L., Dec 2013, In : American Journal of Medical Genetics. Part A. 161A, 12, p. 3191-5 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  28. 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

  29. Published

    Segregation of a 4p16.3 duplication with a characteristic appearance, macrocephaly, speech delay and mild intellectual disability in a 3-generation family

    Schönewolf-Greulich, B., Ravn, K., Hamborg-Petersen, B., Brøndum-Nielsen, K. & Tümer, Z., Sep 2013, In : American Journal of Medical Genetics. Part A. 161, 9, p. 2358-62 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  30. Published

    The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes

    Curry, C. J., Rosenfeld, J. A., Grant, E., Gripp, K. W., Anderson, C., Aylsworth, A. S., Saad, T. B., Chizhikov, V. V., Dybose, G., Fagerberg, C. R., Falco, M., Fels, C., Fichera, M., Graakjaer, J., Greco, D., Hair, J., Hopkins, E., Huggins, M., Ladda, R., Li, C., Moeschler, J., Nowaczyk, M. J. M., Ozmore, J. R., Reitano, S., Romano, C., Roos, L., Schnur, R. E., Sell, S., Suwannarat, P., Svaneby, D., Szybowska, M., Tarnopolsky, M., Tervo, R., Tsai, A. C-H., Tucker, M., Vallee, S., Wheeler, F. C., Zand, D. J., Barkovich, A. J., Aradhya, S., Shaffer, L. G. & Dobyns, W. B., Aug 2013, In : American Journal of Medical Genetics. Part A. 161A, 8, p. 1833-52 20 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  31. Published

    Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 gene

    Avila, M., Kirchhoff, E. M., Marle, N., Hove, H. D., Chouchane, M., Thauvin-Robinet, C., Masurel, A., Mosca-Boidron, A-L., Callier, P., Mugneret, F., Kjaergaard, S. & Faivre, L., Jul 2013, In : American Journal of Medical Genetics. Part A. 161A, 7, p. 1594-8 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  32. Published
  33. 2012
  34. Published

    Microdeletion in distal 17p13.1: a recognizable phenotype with microcephaly, distinctive facial features, and intellectual disability

    Zeesman, S., Kjaergaard, S., Hove, H. B., Kirchhoff, E. M., Stevens, J. M. & Nowaczyk, M. J. M., 2012, In : American Journal of Medical Genetics. Part A. 158A, 8, p. 1832-6 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  35. Published

    Partial duplication of 13q31.3-q34 and deletion of 13q34 associated with diaphragmatic hernia as a sole malformation in a fetus

    Jønch, A. E., Larsen, L. G., Pouplier, S., Nielsen, K., Brøndum-Nielsen, K. & Tümer, Z., 2012, In : American Journal of Medical Genetics. Part A. 158A, 9, p. 2302-8 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  36. Published

    Screening of congenital heart disease patients using multiplex ligation-dependent probe amplification: early diagnosis of syndromic patients

    Sørensen, K. M., El-Segaier, M., Fernlund, E., Errami, A., Bouvagnet, P., Nehme, N., Steensberg, J., Hjortdal, V. E., Soller, M., Behjati, M., Werge, T., Kirchoff, E. M., Schouten, J., Tommerup, N., Andersen, P. S. & Larsen, L. A., 2012, In : American Journal of Medical Genetics. Part A. 158A, 4, p. 720-5 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  37. 2011
  38. Published

    Complex distal 10q rearrangement in a girl with mild intellectual disability: follow up of the patient and review of the literature of non-acrocentric satellited chromosomes

    Sarri, C., Douzgou, S., Gyftodimou, Y., Tümer, Z., Ravn, K., Pasparaki, A., Sarafidou, T., Kontos, H., Kokotas, H., Karadima, G., Grigoriadou, M., Pandelia, E., Theodorou, V., Moschonas, N. K. & Petersen, M. B., Nov 2011, In : American Journal of Medical Genetics. Part A. 155A, 11, p. 2841-54 14 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  39. Published

    Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects

    Cingöz, S., Bache, I., Bjerglund, L., Ropers, H-H., Tommerup, N., Jensen, H., Brøndum-Nielsen, K. & Tümer, Z., Jan 2011, In : American Journal of Medical Genetics. Part A. 155A, 1, p. 203-6 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  40. Published

    500K SNP array analyses in blood and saliva showed no differences in a pair of monozygotic twins discordant for cleft lip

    Jakobsen, L. P., Bugge, M., Ullmann, R., Schjerling, C. K., Borup, R., Hansen, L., Eiberg, H. R. L. & Tommerup, N., 2011, In : American Journal of Medical Genetics. Part A. 155A, 3, p. 652-5 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  41. Published

    Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment

    Rendtorff, N. D., Lodahl, M., Boulahbel, H., Johansen, I. R., Pandya, A., Welch, K. O., Norris, V. W., Arnos, K. S., Bitner-Glindzicz, M., Emery, S. B., Mets, M. B., Fagerheim, T., Eriksson, K., Hansen, L., Bruhn, H., Möller, C., Lindholm, S., Ensgaard, S., Lesperance, M. M. & Tranebjaerg, L., 2011, In : American Journal of Medical Genetics. Part A. 155A, 6, p. 1298-313 16 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  42. Published

    Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region

    Schönewolf-Greulich, B., Ronan, A., Ravn, K., Baekgaard, P., Lodahl, M., Nielsen, K., Rendtorff, N. D., Tranebjaerg, L., Brøndum-Nielsen, K. & Tümer, Z., 2011, In : American Journal of Medical Genetics. Part A. 155A, 12, p. 2964-9 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  43. 2010
  44. Published

    Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features

    Sehested, L. T., Møller, R. S., Bache, I., Andersen, N. B., Ullmann, R., Tommerup, N. & Tümer, Z., 1 Dec 2010, In : American Journal of Medical Genetics. Part A. 152A, 12, p. 3115-9 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  45. Published

    Increased number of sex chromosomes affects height in a nonlinear fashion: a study of 305 patients with sex chromosome aneuploidy

    Ottesen, A-M., Aksglaede, L., Garn, I., Tartaglia, N., Tassone, F., Gravholt, C. H., Bojesen, A., Sørensen, K., Jørgensen, N., Rajpert-De Meyts, E., Gerdes, T., Lind, A-M., Kjaergaard, S. & Juul, A., 1 May 2010, In : American Journal of Medical Genetics. Part A. 152A, 5, p. 1206-12 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  46. Published

    Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation

    Lugtenberg, D., Zangrande-Vieira, L., Kirchhoff, M., Whibley, A. C., Oudakker, A. R., Kjaergaard, S., Vianna-Morgante, A. M., Kleefstra, T., Ruiter, M., Jehee, F. S., Ullmann, R., Schwartz, C. E., Stratton, M., Raymond, F. L., Veltman, J. A., Vrijenhoek, T., Pfundt, R., Schuurs-Hoeijmakers, J. H. M., Hehir-Kwa, J. Y., Froyen, G., Chelly, J., Ropers, H. H., Moraine, C., Gècz, J., Knijnenburg, J., Kant, S. G., Hamel, B. C. J., Rosenberg, C., van Bokhoven, H. & de Brouwer, A. P. M., 1 Mar 2010, In : American Journal of Medical Genetics. Part A. 152A, 3, p. 638-45 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  47. 2009
  48. Published

    Cervical Vertebrae, Cranial Base, and Mandibular Retrognathia in Human Triploid Fetuses

    Sonnesen, L., Nolting, D., Engel, U. & Kjär, I., 2009, In : American Journal of Medical Genetics. Part A. Part A, 149A, p. 177-187 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  49. 2006
  50. Published

    Familial Adenomatous Polyposis (FAP):Genotype Correlation to FAP Phenotype With Osteomas and Sebaceous Cysts

    Bisgaard, M. L. & Bülow, S., 2006, In : American Journal of Medical Genetics. Part A. 140A, 3, p. 200-4 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  51. 2002
  52. Published

    Search for a shared segment on chromosome 10q26 in patients with bipolar affective disorder or schizophrenia from the Faroe Islands

    Ewald, H., Flint, T. J., Jorgensen, T. H., Wang, A. G., Jensen, P., Vang, M., Mors, O. & Kruse, T. A., 2002, In : American Journal of Medical Genetics. 114, 2, p. 196-204 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  53. Published

    Search for common haplotypes on chromosome 22q in patients with schizophrenia or bipolar disorder from the Faroe Islands

    Jorgensen, T. H., Børglum, A. D., Mors, O., Wang, A. G., Pinaud, M., Flint, T. J., Dahl, H. A., Vang, M., Kruse, T. A. & Ewald, H., 2002, In : American Journal of Medical Genetics. 114, 2, p. 245-52 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  54. Published

    Short bi-iliac distance in prenatal Ullrich-Turner syndrome.

    Hartling, U. B., Hansen, B. F., Keeling, J. W., Skovgaard, L. T. & Kjaer, I., 2002, In : American Journal of Medical Genetics. Part A. 108, 4, p. 290-294 5 p.

    Research output: Contribution to journalJournal articleResearch

  55. 2001
  56. Published

    Bi-iliac distance and iliac bone position compared to the vertebral column in normal fetal development.

    Hartling, U. B., Fischer Hansen, B., Skovgaard, L. T. & Kjaer, I., 2001, In : American Journal of Medical Genetics. Part A. 99, 2, p. 154-158 5 p.

    Research output: Contribution to journalJournal articleResearch

  57. 1999
  58. Published

    Skeletal malformations in fetuses with Meckel syndrome.

    Kjaer, K. W., Fischer Hansen, B., Keeling, J. W. & Kjaer, I., 1999, In : American Journal of Medical Genetics. Part A. 84, 5, p. 469-475 7 p.

    Research output: Contribution to journalJournal articleResearch

ID: 44340