Niels Tommerup

Niels Tommerup

Professor, dr.med., Professor


Publication year:
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1 - 9 out of 9Page size: 10
  1. 2013
  2. Published

    Next-generation sequencing: proof of concept for antenatal prediction of the fetal Kell blood group phenotype from cell-free fetal DNA in maternal plasma

    Rieneck, K., Bak, M., Jønson, L., Clausen, F. B., Krog, G. R., Tommerup, Niels, Nielsen, L. K., Hedegaard, M. & Dziegiel, Morten Hanefeld, Nov 2013, In: Transfusion. 53, 11 Suppl 2, p. 2892-2898 7 p.

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

  3. Published

    An association study between the norepinephrine transporter gene and depression

    Buttenschøn, H. N., Jacobsen, I. S., Grynderup, M. B., Hansen, Åse Marie, Kolstad, H. A., Kaerlev, L., Thomsen, Jane Frølund, Nordentoft, Merete, Silahtaroglu, Asli, Tommerup, Niels, Tümer, Asuman Zeynep, Krogh, J., Børglum, A. & Mors, O., Oct 2013, In: Psychiatric Genetics. 23, 5, p. 217-21 5 p.

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

  4. Published

    Genetic heterogeneity in Pakistani microcephaly families

    Sajid Hussain, M., Bakhtiar, S. M., Farooq, M., Anjum, I., Janzen, E., Reza Toliat, M., Eiberg, Hans Rudolf Lytchoff, Kjaer, K. W., Tommerup, Niels, Noegel, A. A., Nürnberg, P., Baig, S. M. & Hansen, Lars, May 2013, In: Clinical Genetics. 83, 5, p. 446-51 6 p.

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

  5. Published

    Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability

    Hansen, Lars, Tawamie, H., Murakami, Y., Mang, Y., ur Rehman, S., Buchert, R., Schaffer, S., Muhammad, S., Bak, M., Nöthen, M. M., Bennett, Eric Paul, Maeda, Y., Aigner, M., Reis, A., Kinoshita, T., Tommerup, Niels, Baig, S. M. & Abou Jamra, R., 4 Apr 2013, In: American Journal of Human Genetics. 92, 4, p. 575-83 9 p.

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

  6. Published

    Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy

    Møller, R. S., Weber, Y. G., Klitten, L. L., Trucks, H., Muhle, H., Kunz, W. S., Mefford, H. C., Franke, A., Kautza, M., Wolf, P., Dennig, D., Schreiber, S., Rückert, I-M., Wichmann, H-E., Ernst, J. P., Schurmann, C., Grabe, H. J., Tommerup, N., Stephani, U., Lerche, H. & 4 others, Hjalgrim, H., Helbig, I., Sander, T. & EPICURE Consortium, E. C., Feb 2013, In: Epilepsia. 54, 2, p. 256-64 9 p.

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

  7. Published

    Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency

    Berryer, M. H., Hamdan, F. F., Klitten, L. L., Møller, R. S., Carmant, L., Schwartzentruber, J., Patry, L., Dobrzeniecka, S., Rochefort, D., Neugnot-Cerioli, M., Lacaille, J-C., Niu, Z., Eng, C. M., Yang, Y., Palardy, S., Belhumeur, C., Rouleau, G. A., Tommerup, N., Immken, L., Beauchamp, M. H. & 7 others, Patel, G. S., Majewski, J., Tarnopolsky, M. A., Scheffzek, K., Hjalgrim, H., Michaud, J. L. & Di Cristo, G., Feb 2013, In: Human Mutation. 34, 2, p. 385-94 10 p.

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

  8. Published

    The role of SLC2A1 in early onset and childhood absence epilepsies

    Muhle, H., Helbig, I., Frøslev, Tobias Guldberg, Suls, A., von Spiczak, S., Klitten, L. L., Dahl, H. A., Brusgaard, K., Neubauer, B., De Jonghe, P., Tommerup, Niels, Stephani, U., Hjalgrim, H. & Møller, R. S., 7 Jan 2013, In: Epilepsy Research. 105, 1-2, p. 229-233 5 p.

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

  9. Published

    General Olfactory Sensitivity Data-base: A Unique Knowledgebase for the least Explored of our Major Senses.

    Tommerup, Niels, Jan 2013, In: Human Mutation. 34, 1, p. vii

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

  10. Published

    Dysfunction of the heteromeric KV7.3/KV7.5 potassium channel is associated with autism spectrum disorders

    Nielsen, M. G., Rasmussen, Hanne Borger, Callø, Kirstine, F. Sequeira, A., Baretto, M., Oliveira, G., Almeida, J., B. Lauritsen, M., Ullmann, R., Boonen, S. E., Brøndum-Nielsen, K., M. Kalscheuer, V., Tümer, Asuman Zeynep, M. Vicente, A., Schmitt, Nicole & Tommerup, Niels, 2013, In: Frontiers in Genetics. 4, 54, p. 1-13 13 p.

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

ID: 5189