Lone Laulund

MD, Consultant

20142019
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  • 5 Similar Profiles
Language Development Disorders Medicine & Life Sciences
Macrostomia Medicine & Life Sciences
Nervous System Medicine & Life Sciences
Macroglossia Medicine & Life Sciences
Exome Medicine & Life Sciences
Protein Isoforms Medicine & Life Sciences
RNA Medicine & Life Sciences
RNA Sequence Analysis Medicine & Life Sciences

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Research Output 2014 2019

  • 4 Journal article

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

DDD Study, Dec 2019, In : Genetics in Medicine. 21, 12, p. 2723-2733

Research output: Contribution to journalJournal articleResearchpeer-review

Open Access
File
Nervous System
RNA Sequence Analysis
Gene Expression Profiling
Drosophila melanogaster
RNA
46 Downloads (Pure)

Is MED13L-related intellectual disability a recognizable syndrome?

Tørring, P. M., Larsen, M. J., Brasch-Andersen, C., Krogh, L. N., Kibæk, M., Laulund, L., Illum, N., Dunkhase-Heinl, U., Wiesener, A., Popp, B., Marangi, G., Hjortshøj, T. D., Ek, J., Vogel, I., Becher, N., Roos, L., Zollino, M. & Fagerberg, C. R., Feb 2019, In : European Journal of Medical Genetics. 62, 2, p. 129-136

Research output: Contribution to journalJournal articleResearchpeer-review

Open Access
File
Macrostomia
Macroglossia
Language Development Disorders
Foramen Ovale
Exome
60 Downloads (Pure)

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. & 85 others, 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., 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., Jun 2019, In : Genetics in Medicine. 21, 6, p. 1295-1307

Research output: Contribution to journalJournal articleResearchpeer-review

Open Access
File
Eyelashes
Hypertrichosis
Exome
Eyebrows
Patient Advocacy

Disruption of the ASTN2 / TRIM32 locus at 9q33.1 is a risk factor in males for Autism Spectrum Disorders, ADHD and other neurodevelopmental phenotypes

Lionel, A. C., Tammimies, K., Vaags, A. K., Rosenfeld, J. A., Ahn, J. W., Merico, D., Noor, A., Runke, C. K., Pillalamarri, V. K., Carter, M. T., Gazzellone, M. J., Thiruvahindrapuram, B., Fagerberg, C. R., Laulund, L. W., Pellecchia, G., Lamoureux, S., Deshpande, C., Clayton-Smith, J., White, A. C., Leather, S. & 64 others, Trounce, J., Bedford, H. M., Hatchwell, E., Eis, P. S., Yuen, R. K. C., Walker, S., Uddin, M., Geraghty, M. T., Nikkel, S. M., Tomiak, E. M., Fernandez, B. A., Soreni, N., Crosbie, J., Arnold, P. D., Schachar, R. J., Roberts, W., Paterson, A. D., So, J., Szatmari, P., Chrysler, C., Woodbury-Smith, M., Lowry, R. B., Zwaigenbaum, L., Mandyam, D., Wei, J., Macdonald, J. R., Howe, J. L., Nalpathamkalam, T., Wang, Z., Tolson, D., Cobb, D. S., Wilks, T. M., Sorensen, M. J., Bader, P. I., An, Y., Wu, B-L., Musumeci, S. A., Romano, C., Postorivo, D., Nardone, A. M., Della Monica, M., Scarano, G., Zoccante, L., Novara, F., Zuffardi, O., Ciccone, R., Antona, V., Carella, M., Zelante, L., Cavalli, P., Poggiani, C., Cavallari, U., Argiropoulos, B., Chernos, J., Brasch-Andersen, C., Speevak, M., Fichera, M., Ogilvie, C. M., Shen, Y., Hodge, J. C., Talkowski, M. E., Stavropoulos, D. J., Marshall, C. R. & Scherer, S. W., 14. Jan 2014, In : Human Molecular Genetics. 23, 10, p. 2752-2768

Research output: Contribution to journalJournal articleResearchpeer-review

Protein Isoforms
Language Development Disorders
Population Control
Transcription Initiation Site
Neocortex