Niels Tommerup

Niels Tommerup

Professor, dr.med., Professor


Publication year:
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1 - 10 out of 11Page size: 10
  1. 2018
  2. Published

    Congenital olfactory impairment is linked to cortical changes in prefrontal and limbic brain regions

    Karstensen, H. G., Vestergaard, M., Baaré, W. F. C., Skimminge, A., Djurhuus, Bjarki Ditlev, Ellefsen, B., Brüggemann, N., Klausen, C., Leffers, A. M., Tommerup, Niels & Siebner, Hartwig Roman, Dec 2018, In: Brain Imaging and Behavior. 12, 6, p. 1569-1582 14 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  3. Published

    Gastroschise og Omphalocele i Grønland 1989-2015

    Bugge, M., Drachmann, G., Kern, P., Budtz-Joergensen, Esben, Eiberg, Hans Rudolf Lytchoff, Olsen, B., Tommerup, Niels & Nielsen, I., Jan 2018, In: Nakorsanut. 43, 1, p. 20-22 3 p.

    Research output: Contribution to journal › Journal article › Research

  4. Published

    Breakpoint mapping and haplotype analysis of translocation t(1;12)(q43;q21.1) in two apparently independent families with vascular phenotypes

    Luukkonen, T. M., Mehrjouy, M. M., Pöyhönen, M., Anttonen, A., Lahermo, P., Ellonen, P., Paulin, L., Tommerup, Niels, Palotie, A. & Varilo, T., 2018, In: Molecular genetics & genomic medicine. 6, 1, p. 56-68

    Research output: Contribution to journal › Journal article › Research › peer-review

  5. Published

    Challenges for the sustainability of university-run biobanks

    Kongsholm, Nana Cecilie Halmsted, Christensen, Søren Tvorup, Herrmann, Janne Rothmar, Larsen, Lars Allan, Minssen, Timo, Pedersen, Lotte Bang, Rajam, N., Tommerup, Niels, Tupasela, A. M. & Schovsbo, Jens Hemmingsen, 2018, In: Biopreservation and Biobanking. 16, 4, p. 312-321 10 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  6. Published

    Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement

    Aristidou, C., Theodosiou, A., Ketoni, A., Bak, M., Mehrjouy, M. M., Tommerup, Niels & Sismani, C., 2018, In: Molecular Cytogenetics. 11, 8 p., 34.

    Research output: Contribution to journal › Journal article › Research › peer-review

  7. Published

    De novo unbalanced translocations have a complex history/aetiology

    Bonaglia, M. C., Kurtas, N. E., Errichiello, E., Bertuzzo, S., Beri, S., Mehrjouy, M. M., Provenzano, A., Vergani, D., Pecile, V., Novara, F., Reho, P., Di Giacomo, M. C., Discepoli, G., Giorda, R., Aldred, M. A., Santos-Rebouças, C. B., Goncalves, A. P., Abuelo, D. N., Giglio, S., Ricca, I. & 7 others, Franchi, F., Patsalis, P., Sismani, C., Morí, M. A., Nevado, J., Tommerup, Niels & Zuffardi, O., 2018, In: Human Genetics. 137, 10, p. 817-829 13 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  8. Published

    Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases

    Aristidou, C., Theodosiou, A., Bak, M., Mehrjouy, M. M., Constantinou, E., Alexandrou, A., Papaevripidou, I., Christophidou-Anastasiadou, V., Skordis, N., Kitsiou-Tzeli, S., Tommerup, Niels & Sismani, C., 2018, In: PLOS ONE. 13, 10, 13 p., e0205298.

    Research output: Contribution to journal › Journal article › Research › peer-review

  9. Published

    Regulatory variants of FOXG1 in the context of its topological domain organisation

    Mehrjouy, M. M., Fonseca, A. C. S., Ehmke, N., Paskulin, G., Novelli, A., Benedicenti, F., Mencarelli, M. A., Renieri, A., Busa, T., Missirian, C., Hansen, C., Abe, K. T., Speck-Martins, C. E., Vianna-Morgante, A. M., Bak, M. & Tommerup, Niels, 2018, In: European Journal of Human Genetics. 26, 2, p. 186–196

    Research output: Contribution to journal › Journal article › Research › peer-review

  10. 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. & 4 others, Tommerup, Niels, Lundberg, E. S., Tümer, Asuman Zeynep & Lindstrand, A., 2018, In: PLOS Genetics. 14, 11, 25 p., e1007780.

    Research output: Contribution to journal › Journal article › Research › peer-review

  11. 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. & 5 others, Hansen, C., Talkowski, M. E., Bak, M., Tommerup, Niels & Bache, Iben, 2018, In: American Journal of Human Genetics. 102, 6, p. 1090-1103 14 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

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