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

    ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder

    Oates, S., Absoud, M., Goyal, S., Bayley, S., Baulcomb, J., Sims, A., Riddett, A., Allis, K., Brasch-Andersen, C., Balasubramanian, M., Bai, R., Callewaert, B., Hüffmeier, U., Le Duc, D., Radtke, M., Korff, C., Kennedy, J., Low, K., Møller, R. S., Nielsen, J. E. K., Popp, B., Quteineh, L., Rønde, G., Schönewolf-Greulich, B., Shillington, A., Taylor, M. R., Todd, E., Torring, P. M., Tümer, Z., Vasileiou, G., Yates, T. M., Zweier, C., Rosch, R., Basson, M. A. & Pal, D. K., Oct 2021, In: Clinical Genetics. 100, 4, p. 412-429 18 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. E-pub ahead of print

    Clinical and molecular delineation of PUS3-associated neurodevelopmental disorders

    Nøstvik, M., Kateta, S. M., Schönewolf-Greulich, B., Afenjar, A., Barth, M., Boschann, F., Doummar, D., Haack, T. B., Keren, B., Livshits, L. A., Mei, D., Park, J., Pisano, T., Prouteau, C., Umair, M., Waqas, A., Ziegler, A., Guerrini, R., Møller, R. S. & Tümer, Z., 20 Aug 2021, (E-pub ahead of print) In: Clinical Genetics.

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Published

    Classification of MSH6 Variants of Uncertain Significance Using Functional Assays

    Frederiksen, J. H., Jensen, S. B., Tümer, Z. & Hansen, T. V. O., 11 Aug 2021, In: International Journal of Molecular Sciences. 22, 16

    Research output: Contribution to journalReviewResearchpeer-review

  5. Published

    DLG4-related synaptopathy: a new rare brain disorder

    Rodríguez-Palmero, A., Boerrigter, M. M., Gómez-Andrés, D., Aldinger, K. A., Marcos-Alcalde, Í., Popp, B., Everman, D. B., Lovgren, A. K., Arpin, S., Bahrambeigi, V., Beunders, G., Bisgaard, A-M., Bjerregaard, V. A., Bruel, A-L., Challman, T. D., Cogné, B., Coubes, C., de Man, S. A., Denommé-Pichon, A-S., Dye, T. J., Elmslie, F., Feuk, L., García-Miñaúr, S., Gertler, T., Giorgio, E., Gruchy, N., Haack, T. B., Haldeman-Englert, C. R., Haukanes, B. I., Hoyer, J., Hurst, A. C. E., Isidor, B., Soller, M. J., Kushary, S., Kvarnung, M., Landau, Y. E., Leppig, K. A., Lindstrand, A., Kleinendorst, L., MacKenzie, A., Mandrile, G., Mendelsohn, B. A., Moghadasi, S., Morton, J. E., Moutton, S., Müller, A. J., O'Leary, M., Pacio-Míguez, M., Palomares-Bralo, M., Parikh, S., Pfundt, R., Pode-Shakked, B., Rauch, A., Repnikova, E., Revah-Politi, A., Ross, M. J., Ruivenkamp, C. A. L., Sarrazin, E., Savatt, J. M., Schlüter, A., Schönewolf-Greulich, B., Shad, Z., Shaw-Smith, C., Shieh, J. T., Shohat, M., Spranger, S., Thiese, H., Mau-Them, F. T., van Bon, B., van de Burgt, I., van de Laar, I. M. B. H., van Drie, E., van Haelst, M. M., van Ravenswaaij-Arts, C. M., Verdura, E., Vitobello, A., Waldmüller, S., Whiting, S., Zweier, C., Prada, C. E., de Vries, B. B. A., Dobyns, W. B., Reiter, S. F., Gómez-Puertas, P., Pujol, A. & Tümer, Z., May 2021, In: Genetics in medicine : official journal of the American College of Medical Genetics. 23, 5, p. 888-899 12 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. E-pub ahead of print

    Oliver McFarlane syndrome: two new cases and a review of the literature

    Lisbjerg, K., Andersen, M. K. G., Bertelsen, M., Brost, A. G., Buchvald, F. F., Jensen, R. B., Bisgaard, A-M., Rosenberg, T., Tümer, Z. & Kessel, L., 5 Apr 2021, (E-pub ahead of print) In: Ophthalmic Genetics. 42, 4, p. 464-473 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  7. Published

    Deciphering the premature mortality in PIGA-CDG - An untold story

    Bayat, A., Kløvgaard, M., Johannesen, K. M., Stefan Barakat, T., Kievit, A., Montomoli, M., Parrini, E., Pietrafusa, N., Schelhaas, J., van Slegtenhorst, M., Miya, K., Guerrini, R., Tranebjærg, L., Tümer, Z., Rubboli, G. & Møller, R. S., 1 Feb 2021, In: Epilepsy Research. 170, p. 106530

    Research output: Contribution to journalJournal articleResearchpeer-review

  8. Published
  9. E-pub ahead of print

    Elevated Expression of SLC6A4 Encoding the Serotonin Transporter (SERT) in Gilles de la Tourette Syndrome

    Hildonen, M., Levy, A. M., Dahl, C., Bjerregaard, V. A., Birk Møller, L., Guldberg, P., Debes, N. M. & Tümer, Z., 12 Jan 2021, (E-pub ahead of print) In: Genes. 12, 1, p. 1-10 10 p., 86.

    Research output: Contribution to journalJournal articleResearchpeer-review

  10. 2020
  11. Published
  12. Published

    Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4-BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders: A Review of the Literature

    Oliva-Teles, N., de Stefano, M. C., Gallagher, L., Rakic, S., Jorge, P., Cuturilo, G., Markovska-Simoska, S., Borg, I., Wolstencroft, J., Tümer, Z., Harwood, A. J., Kodra, Y. & Skuse, D., 2 Dec 2020, In: International Journal of Environmental Research and Public Health. 17, 24, p. 9253

    Research output: Contribution to journalReviewResearchpeer-review

  13. Published

    Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A)

    Kaur, S., Van Bergen, N. J., Verhey, K. J., Nowell, C. J., Budaitis, B., Yue, Y., Ellaway, C., Brunetti-Pierri, N., Cappuccio, G., Bruno, I., Boyle, L., Nigro, V., Torella, A., Roscioli, T., Cowley, M. J., Massey, S., Sonawane, R., Burton, M. D., Schonewolf-Greulich, B., Tümer, Z., Chung, W. K., Gold, W. A. & Christodoulou, J., 1 Oct 2020, In: Human Mutation. 41, 10, p. 1761-1774 14 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  14. Published

    Stable Longitudinal Methylation Levels at the CpG Sites Flanking the CTG Repeat of DMPK in Patients with Myotonic Dystrophy Type 1

    Hildonen, M., Knak, K. L., Dunø, M., Vissing, J. & Tümer, Z., 13 Aug 2020, In: Genes. 11, 8, p. 936

    Research output: Contribution to journalJournal articleResearchpeer-review

  15. Published

    Human induced pluripotent cells in personalized treatment of monogenic epilepsies

    Mohammadi, N. A., Freude, K., Haukedal, H., Tümer, Z. & Møller, R. S., 10 Jul 2020, In: Journal of Translational Genetics and Genomics.

    Research output: Contribution to journalJournal articleResearchpeer-review

  16. 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

  17. Published

    Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

    Krab, L. C., Marcos-Alcalde, I., Assaf, M., Balasubramanian, M., Andersen, J. B., Bisgaard, A-M., Fitzpatrick, D. R., Gudmundsson, S., Huisman, S. A., Kalayci, T., Maas, S. M., Martinez, F., McKee, S., Menke, L. A., Mulder, P. A., Murch, O. D., Parker, M., Pie, J., Ramos, F. J., Rieubland, C., Rosenfeld Mokry, J. A., Scarano, E., Shinawi, M., Gómez-Puertas, P., Hennekam, R. C. & Tümer, Z., May 2020, In: Human Genetics. 139, 5, p. 575-592 18 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  18. Published

    Chromothripsis and DNA Repair Disorders

    Nazaryan-Petersen, L., Bjerregaard, V. A., Nielsen, F. C., Tommerup, N. & Tümer, Z., 25 Feb 2020, In: Journal of Clinical Medicine. 9, 3, p. 613

    Research output: Contribution to journalReviewResearchpeer-review

  19. Published
  20. Published

    Mitochondrial Function in Gilles de la Tourette Syndrome Patients With and Without Intragenic IMMP2L Deletions

    Bjerregaard, V. A., Schönewolf-Greulich, B., Juel Rasmussen, L., Desler, C. & Tümer, Z., 2020, In: Frontiers in Neurology. 11, p. 163 163.

    Research output: Contribution to journalJournal articleResearchpeer-review

  21. 2019
  22. Published
  23. Published

    Autism and developmental disability caused by KCNQ3 gain-of-function variants

    Sands, T. T., Miceli, F., Lesca, G., Beck, A. E., Sadleir, L. G., Arrington, D. K., Schönewolf-Greulich, B., Moutton, S., Lauritano, A., Nappi, P., Soldovieri, M. V., Scheffer, I. E., Mefford, H. C., Stong, N., Heinzen, E. L., Goldstein, D. B., Perez, A. G., Kossoff, E. H., Stocco, A., Sullivan, J. A., Shashi, V., Gerard, B., Francannet, C., Bisgaard, A-M., Tümer, Z., Willems, M., Rivier, F., Vitobello, A., Thakkar, K., Rajan, D. S., Barkovich, A. J., Weckhuysen, S., Cooper, E. C., Taglialatela, M. & Cilio, M. R., Aug 2019, In: Annals of Neurology. 86, 2, p. 181-192 12 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  24. Published

    Development, behaviour and autism in individuals with SMC1A variants

    Tümer, Z., Mulder, P. A., Huisman, S., Landlust, A. M., Moss, J., Piening, S., Hennekam, R. C., van Balkom, I. D. C. & SMC1A Consortium, Mar 2019, In: Journal of Child Psychology and Psychiatry and Allied Disciplines. 60, 3, p. 305-313 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  25. Published

    Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

    Karolak, J. A., Vincent, M., Deutsch, G., Gambin, T., Cogné, B., Pichon, O., Vetrini, F., Mefford, H. C., Dines, J. N., Golden-Grant, K., Dipple, K., Freed, A. S., Leppig, K. A., Dishop, M., Mowat, D., Bennetts, B., Gifford, A. J., Weber, M. A., Lee, A. F., Boerkoel, C. F., Bartell, T. M., Ward-Melver, C., Besnard, T., Petit, F., Bache, I., Tümer, Z., Denis-Musquer, M., Joubert, M., Martinovic, J., Bénéteau, C., Molin, A., Carles, D., André, G., Bieth, E., Chassaing, N., Devisme, L., Chalabreysse, L., Pasquier, L., Secq, V., Don, M., Orsaria, M., Missirian, C., Mortreux, J., Sanlaville, D., Pons, L., Küry, S., Bézieau, S., Liet, J-M., Joram, N., Bihouée, T., Scott, D. A., Brown, C. W., Scaglia, F., Tsai, A. C-H., Grange, D. K., Phillips, J. A., Pfotenhauer, J. P., Jhangiani, S. N., Gonzaga-Jauregui, C. G., Chung, W. K., Schauer, G. M., Lipson, M. H., Mercer, C. L., van Haeringen, A., Liu, Q., Popek, E., Coban Akdemir, Z. H., Lupski, J. R., Szafranski, P., Isidor, B., Le Caignec, C. & Stankiewicz, P., 7 Feb 2019, In: American Journal of Human Genetics. 104, 2, p. 213-228 16 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  26. 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

  27. 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 journalReviewResearchpeer-review

  28. Published

    Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

    Tümer, Z., Hjortshøj, T. D. & DDD Study, 2019, In: European journal of human genetics : EJHG. 27, 2, p. 278-290 13 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  29. 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

  30. 2018
  31. Published
  32. Published

    Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization

    Nazaryan-Petersen, L., Eisfeldt, J., Pettersson, M., Lundin, J., Nilsson, D., Wincent, J., Lieden, A., Lovmar, L., Ottosson, J., Gacic, J., Mäkitie, O., Nordgren, A., Vezzi, F., Wirta, V., Käller, M., Hjortshøj, T. D., Jespersgaard, C., Houssari, R., Pignata, L., Bak, M., Tommerup, N., Lundberg, E. S., Tümer, Z. & Lindstrand, A., Nov 2018, In: P L o S Genetics. 14, 11, p. e1007780

    Research output: Contribution to journalJournal articleResearchpeer-review

  33. Published

    Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

    Kline, A. D., Moss, J. F., Selicorni, A., Bisgaard, A-M., Deardorff, M. A., Gillett, P. M., Ishman, S. L., Kerr, L. M., Levin, A. V., Mulder, P. A., Ramos, F. J., Wierzba, J., Ajmone, P. F., Axtell, D., Blagowidow, N., Cereda, A., Costantino, A., Cormier-Daire, V., FitzPatrick, D., Grados, M., Groves, L., Guthrie, W., Huisman, S., Kaiser, F. J., Koekkoek, G., Levis, M., Mariani, M., McCleery, J. P., Menke, L. A., Metrena, A., O'Connor, J., Oliver, C., Pie, J., Piening, S., Potter, C. J., Quaglio, A. L., Redeker, E., Richman, D., Rigamonti, C., Shi, A., Tümer, Z., Van Balkom, I. D. C. & Hennekam, R. C., Oct 2018, In: Nature Reviews. Genetics. 19, 10, p. 649-666 18 p.

    Research output: Contribution to journalReviewResearchpeer-review

  34. Published
  35. Published

    Uniparental Disomy and Imprinting Disorders

    Eggermann, T., Mackay, D. J. G. & Tümer, Z., 28 Jun 2018, In: OBM Genetics. 2, 3, p. 1803031

    Research output: Contribution to journalJournal articleResearchpeer-review

  36. Published

    Tab af X-kromosomet kan være et aldersbetinget fænomen hos kvinder

    Jelsig, A. M., Brøndum-Nielsen, K. & Tümer, A. Z., 4 Jun 2018, In: Ugeskrift for Laeger. 180, 23, p. V10170731

    Research output: Contribution to journalJournal articleResearchpeer-review

  37. Published

    Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications

    Wolfe, K., McQuillin, A., Alesi, V., Boudry Labis, E., Cutajar, P., Dallapiccola, B., Dentici, M. L., Dieux-Coeslier, A., Duban-Bedu, B., Duelund Hjortshøj, T., Goel, H., Loddo, S., Morrogh, D., Mosca-Boidron, A-L., Novelli, A., Olivier-Faivre, L., Parker, J., Parker, M. J., Patch, C., Pelling, A. L., Smol, T., Tümer, Z., Vanakker, O., van Haeringen, A., Vanlerberghe, C., Strydom, A., Skuse, D. & Bass, N., Jun 2018, In: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. 177/4, p. 397-405

    Research output: Contribution to journalJournal articleResearchpeer-review

  38. 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

  39. Published

    Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains

    Monk, D., Morales, J., den Dunnen, J. T., Russo, S., Court, F., Prawitt, D., Eggermann, T., Beygo, J., Buiting, K. & Tümer, Z., 25 Jan 2018, In: Clinical Epigenetics. p. 117-121

    Research output: Contribution to journalJournal articleResearchpeer-review

  40. 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

  41. 2017
  42. Published

    The D313Y variant in the GLA gene - no evidence of a pathogenic role in Fabry disease

    Hasholt, L., Ballegaard, M., Bundgaard, H., Christiansen, M., Law, I., Lund, A. M., Norremolle, A., Krogh Rasmussen, A., Ravn, K., Tumer, Z., Wibrand, F. & Feldt-Rasmussen, U., Dec 2017, In: Scandinavian Journal of Clinical and Laboratory Investigation. 77, 8, p. 617-621 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  43. 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

  44. 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

  45. 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

  46. Published
  47. 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

  48. Published
  49. 2016
  50. 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

  51. 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

  52. Published

    Association of AADAC Deletion and Gilles de la Tourette Syndrome in a Large European Cohort

    Bertelsen, B., Stefánsson, H., Riff Jensen, L., Melchior, L., Debes, N. M. M., Groth, C., Skov, L., Werge, T., Karagiannidis, I., Tarnok, Z., Barta, C., Nagy, P., Farkas, L., Brøndum-Nielsen, K., Rizzo, R., Gulisano, M., Rujescu, D., Kiemeney, L. A., Tosato, S., Nawaz, M. S., Ingason, A., Unnsteinsdottir, U., Steinberg, S., Ludvigsson, P., Stefansson, K., Kuss, A. W., Paschou, P., Cath, D., Hoekstra, P. J., Müller-Vahl, K., Stuhrmann, M., Silahtaroglu, A., Pfundt, R. & Tümer, Z., 3 Sep 2016, In: Biological Psychiatry. 79, 5, p. 383-91

    Research output: Contribution to journalJournal articleResearchpeer-review

  53. Published

    TS-EUROTRAIN: A European-Wide Investigation and Training Network on the Etiology and Pathophysiology of Gilles de la Tourette Syndrome

    Forde, N. J., Kanaan, A. S., Widomska, J., Padmanabhuni, S. S., Nespoli, E., Alexander, J., Rodriguez Arranz, J. I., Fan, S., Houssari, R., Nawaz, M. S., Rizzo, F., Pagliaroli, L., Zilhäo, N. R., Aranyi, T., Barta, C., Boeckers, T. M., Boomsma, D. I., Buisman, W. R., Buitelaar, J. K., Cath, D., Dietrich, A., Driessen, N., Drineas, P., Dunlap, M., Gerasch, S., Glennon, J., Hengerer, B., van den Heuvel, O. A., Jespersgaard, C., Möller, H. E., Müller-Vahl, K. R., Openneer, T. J. C., Poelmans, G., Pouwels, P. J. W., Scharf, J. M., Stefansson, H., Tümer, Z., Veltman, D. J., van der Werf, Y. D., Hoekstra, P. J., Ludolph, A. & Paschou, P., 23 Aug 2016, In: Frontiers in Neuroscience. 10, p. 384

    Research output: Contribution to journalJournal articleResearchpeer-review

  54. Published

    Induced pluripotent stem cell - derived neurons for the study of spinocerebellar ataxia type 3

    Hansen, S. K., Stummann, T. C., Borland, H., Hasholt, L. F., Tümer, Z., Nielsen, J. E., Rasmussen, M. A., Nielsen, T. T., Daechsel, J. C. A., Fog, K. & Hyttel, P., 16 Aug 2016, In: Stem Cell Research. 17, 2, p. 306-317 12 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  55. Published

    Monozygotic twins discordant for narcolepsy type 1 and multiple sclerosis

    Jennum, P. J., Kornum, B. R., Issa, N. M., Gammeltoft, S., Tommerup, N., Morling, N., Tümer, Z. & Knudsen, S., Aug 2016, In: Neurology® neuroimmunology & neuroinflammation. 3, 4, p. e249

    Research output: Contribution to journalJournal articleResearchpeer-review

  56. 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

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