Mette Nyegaard

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Mette Nyegaard – Head of Department Congenital Disorders – Statens Serum Institut | LinkedIn

Ansvarsområder

Afdelingschef for Afdeling for Medfødte Sygdomme. Ansvarlig for neonatal screeningen og for Dansk Neonatal Screeningsbiobank (PKU-biobanken). Aktiviteterne i afdelingen er ligeligt delt mellem varetagelse af screeningen af alle landets nyfødte for medfødte sygdomme og forskning og udvikling indenfor området. Afdelingen omfatter 3 specialiserede laboratoriesektioner, hhv. Neonatal Genetik, Klinisk Massespektrometri og Immunoassay.

Publikationer

DanMAC5: a browser of aggregated sequence variants from 8,671 whole genome sequenced Danish individuals. Banasik, K., Møller, P. L., Techlo, T. R., Holm, P. C., Walters, G. B., Ingason, A., Rosengren, A., Rohde, P. D., Kogelman, L. J. A., Westergaard, D., Siggaard, T., Chmura, P. J., Chalmer, M. A., Magnússon, Ó. Þ., Þórisson, G. Á., Stefánsson, H., Guðbjartsson, D. F., Stefánsson, K., Olesen, J., Winther, S., & 5 flere, 27 maj 2023, I: BMC genomic data. 24, 1.

Combining polygenic and proteomic risk scores with clinical risk factors to improve performance for diagnosing absence of coronary artery disease in patients with de novo chest pain. Møller, P. L., Rohde, P. D., Nørtoft Dahl, J., Dupont Rasmussen, L., Schmidt, S. E., Nissen, L., McGilligan, V., F. Bentzon, J., F. Gudbjartsson, D., Stefansson, K., Holm, H., Winther, S., Bøttcher, M. & Nyegaard, M., 27 sep. 2023, (E-pub ahead of print) I: CIRCULATION-GENOMIC AND PRECISION MEDICINE.

Polygenic risk scores in coronary artery disease. Christiansen, M. K., Nyegaard, M. & Jensen, H. K., jan. 2023, I: Current Opinion in Cardiology. 38, 1, s. 39-46.

The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions. Rahmioglu, N., Mortlock, S., Ghiasi, M., Møller, P. L., Stefansdottir, L., Galarneau, G., Turman, C., Danning, R., Law, M. H., Sapkota, Y., Christofidou, P., Skarp, S., Giri, A., Banasik, K., Krassowski, M., Lepamets, M., Marciniak, B., Nõukas, M., Perro, D., Sliz, E., & 118 flere, 13 mar. 2023, I: Nature Genetics. 55, 3, s. 423–436.

Polygenic Risk Score Prediction for Endometriosis. Kløve-Mogensen, K., Rohde, P. D., Twisttmann, S., Nygaard, M., Koldby, K. M., Steffensen, R., Møller Dahl, C., Rytter, D., Overgaard, M. T., Forman, A., Christiansen, L. & Nyegaard, M., 17 dec. 2021, I: Frontiers in Reproductive Health.

Endometriosis is associated with pregnancy loss: A nationwide historical cohort study. Boje, A. D., Egerup, P., Westergaard, D., Mathilde Friis Bertelsen, M-L., Nyegaard, M., Hartwell, D., Lidegaard, Ø. & Nielsen, H. S., maj 2023, I: Fertility and Sterility. 119, 5, s. 826-835.

Calmodulin mutations affecting Gly114 impair binding to the NaV1.5 IQ-domain. Brohus, M., Busuioc, A-O., Wimmer, R., Nyegaard, M. & Overgaard, M. T., 16 aug. 2023, I: Frontiers in Pharmacology.

The International Calmodulinopathy Registry: recording the diverse phenotypic spectrum of un-CALM hearts. Nyegaard, M. & Overgaard, M. T., 14 sep. 2019, I: European Heart Journal. 40, 35, s. 2976-2978 (invited editorial).

Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death. Nyegaard, M., Overgaard, M. T., Sondergaard, M. T., Vranas, M., Behr, E. R., Hildebrandt, L. L., Lund, J., Hedley, P. L., Camm, A. J., Wettrell, G., Fosdal, I., Christiansen, M. & Borglum, A. D., 2012, I: American Journal of Human Genetics. 91, 4, s. 703-712.