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The Capital Region of Denmark - a part of Copenhagen University Hospital
  1. 2018
  2. Published

    Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes

    Halgren, C., Nielsen, N. M., Nazaryan-Petersen, L., Silahtaroglu, A., Collins, R. L., Lowther, C., Kjaergaard, S., Frisch, M., Kirchhoff, M., Brøndum-Nielsen, K., Lind-Thomsen, A., Mang, Y., El-Schich, Z., Boring, C. A., Mehrjouy, M. M., Jensen, P. K. A., Fagerberg, C., Krogh, L. N., Hansen, J., Bryndorf, T., Hansen, C., Talkowski, M. E., Bak, M., Tommerup, N. & Bache, I., 7 Jun 2018, In : American Journal of Human Genetics. 102, 6, p. 1090-1103 14 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Published

    Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia

    Guissart, C., Latypova, X., Rollier, P., Khan, T. N., Stamberger, H., McWalter, K., Cho, M. T., Kjaergaard, S., Weckhuysen, S., Lesca, G., Besnard, T., Õunap, K., Schema, L., Chiocchetti, A. G., McDonald, M., de Bellescize, J., Vincent, M., Van Esch, H., Sattler, S., Forghani, I., Thiffault, I., Freitag, C. M., Barbouth, D. S., Cadieux-Dion, M., Willaert, R., Guillen Sacoto, M. J., Safina, N. P., Dubourg, C., Grote, L., Carré, W., Saunders, C., Pajusalu, S., Farrow, E., Boland, A., Karlowicz, D. H., Deleuze, J-F., Wojcik, M. H., Pressman, R., Isidor, B., Vogels, A., Van Paesschen, W., Al-Gazali, L., Al Shamsi, A. M., Claustres, M., Pujol, A., Sanders, S. J., Rivier, F., Leboucq, N., Cogné, B., Sasorith, S., Sanlaville, D., Retterer, K., Odent, S., Katsanis, N., Bézieau, S., Koenig, M., Davis, E. E., Pasquier, L. & Küry, S., 3 May 2018, In : American Journal of Human Genetics. 102, 5, p. 744-759 16 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Published
  5. Published

    National screening guidelines and developments in prenatal diagnoses and live births of Down syndrome in the period 1973-2016 in Denmark

    Lou, S., Petersen, O. B., Jørgensen, F. S., Lund, I. C. B., Kjaergaard, S., Vogel, I. & Danish Cytogenetic Central Registry Study Group, 2018, In : Acta Obstetricia et Gynecologica Scandinavica. 97, 2, p. 195-203

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. 2017
  7. Published

    Correlation between Z score, fetal fraction, and sequencing reads in non-invasive prenatal testing

    Balslev-Harder, M., Richter, S. R., Kjaergaard, S. & Johansen, P., Sep 2017, In : Prenatal Diagnosis. 37, 9, p. 943-945 3 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  8. Published

    The length of Y-chromosomal sequence reads in non-invasive prenatal testing reflect allogeneic bone marrow transplant

    Balslev-Harder, M., Jørgensen, F. S., Kjaergaard, S. & Johansen, P., 1 Aug 2017, In : Prenatal Diagnosis. 37, 8, p. 843-845

    Research output: Contribution to journalJournal articleResearchpeer-review

  9. Published

    YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

    Gabriele, M., Vulto-van Silfhout, A. T., Germain, P-L., Vitriolo, A., Kumar, R., Douglas, E., Haan, E., Kosaki, K., Takenouchi, T., Rauch, A., Steindl, K., Frengen, E., Misceo, D., Pedurupillay, C. R. J., Stromme, P., Rosenfeld, J. A., Shao, Y., Craigen, W. J., Schaaf, C. P., Rodriguez-Buritica, D., Farach, L., Friedman, J., Thulin, P., McLean, S. D., Nugent, K. M., Morton, J., Nicholl, J., Andrieux, J., Stray-Pedersen, A., Chambon, P., Patrier, S., Lynch, S. A., Kjaergaard, S., Tørring, P. M., Brasch-Andersen, C., Ronan, A., van Haeringen, A., Anderson, P. J., Powis, Z., Brunner, H. G., Pfundt, R., Schuurs-Hoeijmakers, J. H. M., van Bon, B. W. M., Lelieveld, S., Gilissen, C., Nillesen, W. M., Vissers, L. E. L. M., Gecz, J., Koolen, D. A., Testa, G. & de Vries, B. B. A., 1 Jun 2017, In : American Journal of Human Genetics. 100, 6, p. 907-925 19 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  10. Published
  11. Published

    Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

    Loviglio, M. N., Leleu, M., Männik, K., Passeggeri, M., Giannuzzi, G., van der Werf, I., Waszak, S. M., Zazhytska, M., Roberts-Caldeira, I., Gheldof, N., Migliavacca, E., Alfaiz, A. A., Hippolyte, L., Maillard, A. M., Van Dijck, A., Kooy, R. F., Sanlaville, D., Rosenfeld, J. A., Shaffer, L. G., Andrieux, J., Marshall, C., Scherer, S. W., Shen, Y., Gusella, J. F., Thorsteinsdottir, U., Thorleifsson, G., Dermitzakis, E. T., Deplancke, B., Beckmann, J. S., Rougemont, J., Jacquemont, S., Reymond, A., 2p15 Consortium (Susanne Kjærgaard member) & Kjærgaard, S., 2017, In : Molecular Psychiatry. 22, p. 836-49

    Research output: Contribution to journalJournal articleResearchpeer-review

  12. Published
  13. 2016
  14. Published

    Open source non-invasive prenatal testing platform and its performance in a public health laboratory

    Johansen, P., Richter, S. R., Balslev-Harder, M., Miltoft, C. B., Tabor, A., Duno, M. & Kjaergaard, S., Jun 2016, In : Prenatal Diagnosis. 36, 6, p. 530-6 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  15. 2015
  16. Published
  17. Published

    The Danish Fetal Medicine Database: Establishment, organisation and quality assessment of the first trimester screening programme for trisomy 21 in Denmark 2008-2012

    Ekelund, C. K., Petersen, O. B., Jørgensen, F. S., Kjaergaard, S., Larsen, T., Olesen, A. W., Skibsted, L., Skovbo, P., Sommer, S., Sperling, L., Stavnstrup, B., Størup, B., Zingenberg, H., Uldbjerg, N., Miltoft, C. B., Noergaard, L., Wulff, C. B., Tabor, A. & The Danish Fetal Medicine Research Group, Jun 2015, In : Acta Obstetricia et Gynecologica Scandinavica. 94, 6, p. 577-583

    Research output: Contribution to journalJournal articleResearchpeer-review

  18. 2014
  19. 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

  20. Published

    Array-komparativ genomisk hybridisering er en ny og lovende metode til prænatal kromosomundersøgelse

    Nørgaard, L. N., Ekelund, C., Fagerberg, C., Kjærgaard, S., Lundstrøm, M., Skibsted, L., Sperling, L., Sundberg, K., Tabor, A., Vogel, I. & Petersen, O. B., 21 Jul 2014, In : Ugeskrift for læger [online]. 176, 30, p. 1379-1382 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  21. 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

  22. Published

    Fetal gender adjustment decreases the expected variance in non-invasive prenatal testing analysis

    Johansen, P., Duno, M. & Kjaergaard, S., May 2014, In : Prenatal Diagnosis. 34, 5, p. 508-9 2 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  23. Published
  24. Published

    X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome

    Møller, R. S., Jensen, L. R., Maas, S. M., Filmus, J., Capurro, M., Hansen, C., Marcelis, C. L. M., Ravn, K., Andrieux, J., Mathieu, M., Kirchhoff, E. M., Rødningen, O. K., de Leeuw, N., Yntema, H. G., Froyen, G., Vandewalle, J., Ballon, K., Klopocki, E., Joss, S., Tolmie, J., Knegt, A. C., Lund, A. M., Hjalgrim, H., Kuss, A. W., Tommerup, N. M., Ullmann, R., de Brouwer, A. P. M., Strømme, P., Kjærgaard, S., Tümer, Z. & Kleefstra, T., 2014, In : Human Genetics. 133, 5, p. 625-638

    Research output: Contribution to journalJournal articleResearchpeer-review

  25. 2013
  26. Published

    Multicentric osteolysis with nodulosis and arthropathy (MONA) with cardiac malformation, mimicking polyarticular juvenile idiopathic arthritis: case report and literature review

    Castberg, F. C., Kjaergaard, S., Mosig, R. A., Lobl, M., Martignetti, C., Martignetti, J. A., Myrup, C. & Zak, M., Dec 2013, In : European Journal of Pediatrics. 172, 12, p. 1657-63 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  27. Published

    SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant

    Dauber, A., Golzio, C., Guenot, C., Jodelka, F. M., Kibaek, M., Kjaergaard, S., Leheup, B., Martinet, D., Nowaczyk, M. J. M., Rosenfeld, J. A., Zeesman, S., Zunich, J., Beckmann, J. S., Hirschhorn, J. N., Hastings, M. L., Jacquemont, S. & Katsanis, N., 7 Nov 2013, In : American Journal of Human Genetics. 93, 5, p. 798-811 14 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  28. Published

    De novo mutations in the genome organizer CTCF cause intellectual disability

    Gregor, A., Oti, M., Kouwenhoven, E. N., Hoyer, J., Sticht, H., Ekici, A. B., Kjaergaard, S., Rauch, A., Stunnenberg, H. G., Uebe, S., Vasileiou, G., Reis, A., Zhou, H. & Zweier, C., 11 Jul 2013, In : American Journal of Human Genetics. 93, 1, p. 124-31 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  29. 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

  30. 2012
  31. Published
  32. Published

    A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

    Molin, A-M., Andrieux, J., Koolen, D. A., Malan, V., Carella, M., Colleaux, L., Cormier-Daire, V., David, A., de Leeuw, N., Delobel, B., Duban-Bedu, B., Fischetto, R., Flinter, F., Kjaergaard, S., Kok, F., Krepischi, A. C., Le Caignec, C., Ogilvie, C. M., Maia, S., Mathieu-Dramard, M., Munnich, A., Palumbo, O., Papadia, F., Pfundt, R., Reardon, W., Receveur, A., Rio, M., Ronsbro Darling, L., Rosenberg, C., Sá, J., Vallee, L., Vincent-Delorme, C., Zelante, L., Bondeson, M-L. & Annerén, G., 2012, In : Journal of Medical Genetics. 49, 2, p. 104-9 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  33. 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

  34. Published

    Duplication of 7q36.3 encompassing the Sonic Hedgehog (SHH) gene is associated with congenital muscular hypertrophy

    Kroeldrup, L., Kjaergaard, S., Kirchhoff, E. M., Kock, K. F., Brasch-Andersen, C., Kibaek, M. & Ousager, L. B., 2012, In : European Journal of Medical Genetics. 55, 10, p. 557-60 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  35. Published

    Fetal ventriculomegaly due to familial submicroscopic terminal 6q deletions

    Wadt, K., Jensen, L. N., Bjerglund, L., Lundstrøm, M. S., Kirchhoff, E. M. & Kjaergaard, S., 2012, In : Prenatal Diagnosis. 32, 12, p. 1212-1217 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  36. Published

    Genetisk rådgivning

    Kjærgaard, S., 2012, Medicinsk genetik. Nørby, S. & Jensen, P. K. A. (eds.). 2 ed. København: FADL's Forlag, p. 163-172

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

  37. 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

  38. Published

    Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies

    Kim, H-G., Kim, H-T., Leach, N. T., Lan, F., Ullmann, R., Silahtaroglu, A., Kurth, I., Nowka, A., Seong, I. S., Shen, Y., Talkowski, M. E., Ruderfer, D., Lee, J-H., Glotzbach, C., Ha, K., Kjaergaard, S., Levin, A. V., Romeike, B. F., Kleefstra, T., Bartsch, O., Elsea, S. H., Jabs, E. W., MacDonald, M. E., Harris, D. J., Quade, B. J., Ropers, H-H., Shaffer, L. G., Kutsche, K., Layman, L. C., Tommerup, N., Kalscheuer, V. M., Shi, Y., Morton, C. C., Kim, C-H. & Gusella, J. F., 2012, In : American Journal of Human Genetics. 91, 1, p. 56-72 17 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  39. 2011
  40. Published

    Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis

    Hastings, R., Cobben, J-M., Gillessen-Kaesbach, G., Goodship, J., Hove, H. B., Kjærgaard, S., Kemp, H., Kingston, H., Lunt, P., Mansour, S., McGowan, R., Metcalfe, K., Murdoch-Davis, C., Ray, M., Rio, M., Smithson, S., Tolmie, J., Turnpenny, P., van Bon, B., Wieczorek, D. & Newbury-Ecob, R., 2011, In : European Journal of Human Genetics. 19, 5, p. 513-9 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  41. Published

    Clinical and molecular characterization of two patients with overlapping de novo microdeletions in 2p14-p15 and mild mental retardation

    Wohlleber, E., Kirchhoff, E. M., Zink, A. M., Kreiss-Nachtsheim, M., Küchler, A., Jepsen, B., Kjaergaard, S. & Engels, H., 2011, In : European Journal of Medical Genetics. 54, 1, p. 67-72 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  42. Published

    De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

    Hoischen, A., van Bon, B. W. M., Rodríguez-Santiago, B., Gilissen, C., Vissers, L. E. L. M., de Vries, P., Janssen, I., van Lier, B., Hastings, R., Smithson, S. F., Newbury-Ecob, R., Kjærgaard, S., Goodship, J., McGowan, R., Bartholdi, D., Rauch, A., Peippo, M., Cobben, J. M., Wieczorek, D., Gillessen-Kaesbach, G., Veltman, J. A., Brunner, H. G. & de Vries, B. B. B. A., 2011, In : Nature Genetics. 43, 8, p. 729-31 3 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  43. Published

    First-trimester screening for trisomy 21 in Denmark: implications for detection and birth rates of trisomy 18 and trisomy 13

    Ekelund, C. K., Petersen, O., Skibsted, L. H., Kjærgaard, S., Vogel, I., Tabor, A., Danish Fetal Medicine Research Group & Zingenberg, H. J., 2011, In : Ultrasound in Obstetrics & Gynecology. 38, 2, p. 140-4 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  44. Published
  45. 2010
  46. Published
  47. Published
  48. Published

    Diagnostic yield by supplementing prenatal metaphase karyotyping with MLPA for microdeletion syndromes and subtelomere imbalances

    Kjaergaard, S., Sundberg, K., Jørgensen, F. S., Rohde, M. D., Lind, A. M., Gerdes, T., Tabor, A. & Kirchhoff, M., 1 Oct 2010, In : Prenatal Diagnosis. 30, 10, p. 995-9 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  49. Published

    Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients

    Hoornaert, K. P., Vereecke, I., Dewinter, C., Rosenberg, T., Beemer, F. A., Leroy, J. G., Bendix, L., Björck, E., Bonduelle, M., Boute, O., Cormier-Daire, V., De Die-Smulders, C., Dieux-Coeslier, A., Dollfus, H., Elting, M., Green, A., Guerci, V. I., Hennekam, R. C. M., Hilhorts-Hofstee, Y., Holder, M., Hoyng, C., Jones, K. J., Josifova, D., Kaitila, I., Kjaergaard, S., Kroes, Y. H., Lagerstedt, K., Lees, M., Lemerrer, M., Magnani, C., Marcelis, C., Martorell, L., Mathieu, M., McEntagart, M., Mendicino, A., Morton, J., Orazio, G., Paquis, V., Reish, O., Simola, K. O. J., Smithson, S. F., Temple, K. I., Van Aken, E., Van Bever, Y., van den Ende, J., Van Hagen, J. M., Zelante, L., Zordania, R., De Paepe, A., Leroy, B. P., De Buyzere, M., Coucke, P. J. & Mortier, G. R., 1 Aug 2010, In : European journal of human genetics : EJHG. 18, 8, p. 872-80 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  50. 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

  51. 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

  52. 2005
  53. 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

ID: 36283