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The Capital Region of Denmark - a part of Copenhagen University Hospital
  1. 2020
  2. E-pub ahead of print

    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., 17 Feb 2020, In : Acta Ophthalmologica (Online).

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. 2019
  4. Published
  5. Published
  6. Published

    Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

    van der Sluijs, P. J., Jansen, S., Vergano, S. A., Adachi-Fukuda, M., Alanay, Y., AlKindy, A., Baban, A., Bayat, A., Beck-Wödl, S., Berry, K., Bijlsma, E. K., Bok, L. A., Brouwer, A. F. J., van der Burgt, I., Campeau, P. M., Canham, N., Chrzanowska, K., Chu, Y. W. Y., Chung, B. H. Y., Dahan, K., De Rademaeker, M., Destree, A., Dudding-Byth, T., Earl, R., Elcioglu, N., Elias, E. R., Fagerberg, C., Gardham, A., Gener, B., Gerkes, E. H., Grasshoff, U., van Haeringen, A., Heitink, K. R., Herkert, J. C., den Hollander, N. S., Horn, D., Hunt, D., Kant, S. G., Kato, M., Kayserili, H., Kersseboom, R., Kilic, E., Krajewska-Walasek, M., Lammers, K., Laulund, L. W., Lederer, D., Lees, M., López-González, V., Maas, S., Mancini, G. M. S., Marcelis, C., Martinez, F., Maystadt, I., McGuire, M., McKee, S., Mehta, S., Metcalfe, K., Milunsky, J., Mizuno, S., Moeschler, J. B., Netzer, C., Ockeloen, C. W., Oehl-Jaschkowitz, B., Okamoto, N., Olminkhof, S. N. M., Orellana, C., Pasquier, L., Pottinger, C., Riehmer, V., Robertson, S. P., Roifman, M., Rooryck, C., Ropers, F. G., Rosello, M., Ruivenkamp, C. A. L., Sagiroglu, M. S., Sallevelt, S. C. E. H., Calvo, A. S., Simsek-Kiper, P. O., Soares, G., Solaeche, L., Sonmez, F. M., Splitt, M., Steenbeek, D., Stegmann, A. P. A., Stumpel, C. T. R. M., Tanabe, S., Uctepe, E., Utine, G. E., Veenstra-Knol, H. E., Venkateswaran, S., Vilain, C., Vincent-Delorme, C., Vulto-van Silfhout, A. T., Wheeler, P., Wilson, G. N., Wilson, L. C., Wollnik, B., Kosho, T., Wieczorek, D., Eichler, E., Pfundt, R., de Vries, B. B. A., Clayton-Smith, J. & Santen, G. W. E., Sep 2019, In : Genetics in medicine : official journal of the American College of Medical Genetics. 21, 9, p. 2160-2161 2 p.

    Research output: Contribution to journalJournal articleResearch

  7. Published

    The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

    van der Sluijs, E. P. J., Jansen, S., Vergano, S. A., Adachi-Fukuda, M., Alanay, Y., AlKindy, A., Baban, A., Bayat, A., Beck-Wödl, S., Berry, K., Bijlsma, E. K., Bok, L. A., Brouwer, A. F. J., van der Burgt, I., Campeau, P. M., Canham, N., Chrzanowska, K., Chu, Y. W. Y., Chung, B. H. Y., Dahan, K., De Rademaeker, M., Destree, A., Dudding-Byth, T., Earl, R., Elcioglu, N., Elias, E. R., Fagerberg, C., Gardham, A., Gener, B., Gerkes, E. H., Grasshoff, U., van Haeringen, A., Heitink, K. R., Herkert, J. C., den Hollander, N. S., Horn, D., Hunt, D., Kant, S. G., Kato, M., Kayserili, H., Kersseboom, R., Kilic, E., Krajewska-Walasek, M., Lammers, K., Laulund, L. W., Lederer, D., Lees, M., López-González, V., Maas, S., Mancini, G. M. S., Marcelis, C., Martinez, F., Maystadt, I., McGuire, M., McKee, S., Mehta, S., Metcalfe, K., Milunsky, J., Mizuno, S., Moeschler, J. B., Netzer, C., Ockeloen, C. W., Oehl-Jaschkowitz, B., Okamoto, N., Olminkhof, S. N. M., Orellana, C., Pasquier, L., Pottinger, C., Riehmer, V., Robertson, S. P., Roifman, M., Rooryck, C., Ropers, F. G., Rosello, M., Ruivenkamp, C. A. L., Sagiroglu, M. S., Sallevelt, S. C. E. H., Sanchis Calvo, A., Simsek-Kiper, P. O., Soares, G., Solaeche, L., Mujgan Sonmez, F., Splitt, M., Steenbeek, D., Stegmann, A. P. A., Stumpel, C. T. R. M., Tanabe, S., Uctepe, E., Utine, G. E., Veenstra-Knol, H. E., Venkateswaran, S., Vilain, C., Vincent-Delorme, C., Vulto-van Silfhout, A. T., Wheeler, P., Wilson, G. N., Wilson, L. C., Wollnik, B., Kosho, T., Wieczorek, D., Eichler, E., Pfundt, R., de Vries, B. B. A., Clayton-Smith, J. & Santen, G. W. E., Jun 2019, In : Genetics in medicine : official journal of the American College of Medical Genetics. 21, 6, p. 1295-1307 13 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  8. 2018
  9. Published

    Chronic intestinal pseudo-obstruction syndrome and gastrointestinal malrotation in an infantwith schaaf-yang syndrome - Expanding the phenotypic spectrum

    Bayat, A., Bayat, M., Lozoya, R. & Schaaf, C. P., 1 Sep 2018, In : European Journal of Medical Genetics. 61, 10

    Research output: Contribution to journalJournal articleResearchpeer-review

  10. Published

    Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

    Ivanovski, I., Djuric, O., Caraffi, S. G., Santodirocco, D., Pollazzon, M., Rosato, S., Cordelli, D. M., Abdalla, E., Accorsi, P., Adam, M. P., Ajmone, P. F., Badura-Stronka, M., Baldo, C., Baldi, M., Bayat, A., Bigoni, S., Bonvicini, F., Breckpot, J., Callewaert, B., Cocchi, G., Cuturilo, G., De Brasi, D., Devriendt, K., Dinulos, M. B., Hjortshøj, T. D., Epifanio, R., Faravelli, F., Fiumara, A., Formisano, D., Giordano, L., Grasso, M., Grønborg, S., Iodice, A., Iughetti, L., Kuburovic, V., Kutkowska-Kazmierczak, A., Lacombe, D., Lo Rizzo, C., Luchetti, A., Malbora, B., Mammi, I., Mari, F., Montorsi, G., Moutton, S., Møller, R. S., Muschke, P., Nielsen, J. E. K., Obersztyn, E., Pantaleoni, C., Pellicciari, A., Pisanti, M. A., Prpic, I., Poch-Olive, M. L., Raviglione, F., Renieri, A., Ricci, E., Rivieri, F., Santen, G. W., Savasta, S., Scarano, G., Schanze, I., Selicorni, A., Silengo, M., Smigiel, R., Spaccini, L., Sorge, G., Szczaluba, K., Tarani, L., Tone, L. G., Toutain, A., Trimouille, A., Valera, E. T., Vergano, S. S., Zanotta, N., Zenker, M., Conidi, A., Zollino, M., Rauch, A., Zweier, C. & Garavelli, L., Sep 2018, In : Genetics in medicine : official journal of the American College of Medical Genetics. 20, 9, p. 965-975

    Research output: Contribution to journalJournal articleResearchpeer-review

  11. Published

    Neonatal hyperinsulinemic hypoglycemia in a patient with 9p deletion syndrome

    Bayat, A., Kirchhoff, M., Madsen, C. G. & Kreiborg, S., 1 Aug 2018, In : European Journal of Medical Genetics. 61, 8, p. 473-477

    Research output: Contribution to journalJournal articleResearchpeer-review

  12. Published

    Første danske patient med et genkendeligt genetisk KBG-syndrom

    Bayat, A., Møller, L. B. & Hjortshøj, T. D., 12 Mar 2018, In : Ugeskrift for Laeger. 180, 11, p. V11170848

    Research output: Contribution to journalJournal articleResearchpeer-review

  13. Published

    Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis

    Knaus, A., Pantel, J. T., Pendziwiat, M., Hajjir, N., Zhao, M., Hsieh, T-C., Schubach, M., Gurovich, Y., Fleischer, N., Jäger, M., Köhler, S., Muhle, H., Korff, C., Møller, R. S., Bayat, A., Calvas, P., Chassaing, N., Warren, H., Skinner, S., Louie, R., Evers, C., Bohn, M., Christen, H-J., van den Born, M., Obersztyn, E., Charzewska, A., Endziniene, M., Kortüm, F., Brown, N., Robinson, P. N., Schelhaas, H. J., Weber, Y., Helbig, I., Mundlos, S., Horn, D. & Krawitz, P. M., 1 Jan 2018, In : Genome Medicine. 10, 3

    Research output: Contribution to journalJournal articleResearchpeer-review

  14. 2017
  15. Published

    Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes

    de Kovel, C. G. F., Syrbe, S., Brilstra, E. H., Verbeek, N., Kerr, B., Dubbs, H., Bayat, A., Desai, S., Naidu, S., Srivastava, S., Cagaylan, H., Yis, U., Saunders, C., Rook, M., Plugge, S., Muhle, H., Afawi, Z., Klein, K-M., Jayaraman, V., Rajagopalan, R., Goldberg, E., Marsh, E., Kessler, S., Bergqvist, C., Conlin, L. K., Krok, B. L., Thiffault, I., Pendziwiat, M., Helbig, I., Polster, T., Borggraefe, I., Lemke, J. R., van den Boogaardt, M-J., Møller, R. S. & Koeleman, B. P. C., 1 Oct 2017, In : Archives of Neurology. 74, 10, p. 1228-1236

    Research output: Contribution to journalJournal articleResearchpeer-review

  16. Published

    The evolving craniofacial phenotype of a patient with Sensenbrenner syndrome caused by IFT140 compound heterozygous mutations

    Bayat, A., Kerr, B., Douzgou, S. & DDD Study, 1 Oct 2017, In : Clinical Dysmorphology. 26, 4, p. 247-251

    Research output: Contribution to journalJournal articleResearchpeer-review

  17. Published

    Familial craniofacial abnormality and polymicrogyria associated with a microdeletion affecting the NFIA gene

    Bayat, A., Kirchhoff, M., Madsen, C. G., Roos, L. & Kreiborg, S., 1 Jun 2017, In : Clinical Dysmorphology. 26, 3, p. 148-153

    Research output: Contribution to journalJournal articleResearchpeer-review

  18. Published

    Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients

    Garavelli, L., Ivanovski, I., Caraffi, S. G., Santodirocco, D., Pollazzon, M., Cordelli, D. M., Abdalla, E., Accorsi, P., Adam, M. P., Baldo, C., Bayat, A., Belligni, E., Bonvicini, F., Breckpot, J., Callewaert, B., Cocchi, G., Cuturilo, G., Devriendt, K., Dinulos, M. B., Djuric, O., Epifanio, R., Faravelli, F., Formisano, D., Giordano, L., Grasso, M., Grønborg, S., Iodice, A., Iughetti, L., Lacombe, D., Maggi, M., Malbora, B., Mammi, I., Moutton, S., Møller, R., Muschke, P., Napoli, M., Pantaleoni, C., Pascarella, R., Pellicciari, A., Poch-Olive, M. L., Raviglione, F., Rivieri, F., Russo, C., Savasta, S., Scarano, G., Selicorni, A., Silengo, M., Sorge, G., Tarani, L., Tone, L. G., Toutain, A., Trimouille, A., Valera, E. T., Vergano, S. S., Zanotta, N., Zollino, M., Dobyns, W. B. & Paciorkowski, A. R., Jun 2017, In : Genetics in medicine : official journal of the American College of Medical Genetics. 19, 6, p. 691-700

    Research output: Contribution to journalJournal articleResearchpeer-review

  19. 2016
  20. 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

  21. 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

  22. 2015
  23. Published

    The incidence of SCN1A-related Dravet syndrome in Denmark is 1:22,000: a population-based study from 2004 to 2009

    Bayat, A., Hjalgrim, H. & Møller, R. S., Apr 2015, In : Epilepsia. 56, 4, p. e36-9

    Research output: Contribution to journalJournal articleResearchpeer-review

  24. Published

    Diagnostik og behandling af fenylketonuri

    Bayat, A., Møller, L. B. & Lund, A. M., 16 Feb 2015, In : Ugeskrift for læger [online]. 177, 8, p. V07140383

    Research output: Contribution to journalJournal articleResearchpeer-review

  25. Published

    Mild Lesch-Nyhan Disease in a Boy with a Null Mutation inHPRT1: An Exception to the Known Genotype-Phenotype Correlation

    Bayat, A., Christensen, M., Wibrand, F., Duno, M. & Lund, A., 2015, In : JIMD Reports. 18, p. 135-37

    Research output: Contribution to journalJournal articleResearchpeer-review

  26. 2014
  27. Published

    Forsinket psykomotorisk udvikling og tremorhos en dreng med 48,XXYY-syndrom

    Bayat, M. & Bayat, A., 27 Jan 2014, In : Ugeskrift for Laeger. 176, 5A, p. V07130439

    Research output: Contribution to journalJournal articleResearchpeer-review

ID: 44914289