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Dive into the research topics where Lusine Nazaryan-Petersen is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
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Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder
Elkhateeb, N., Crookes, R., Spiller, M., Pavinato, L., Palermo, F., Brusco, A., Parker, M., Park, S.-M., Mendes, A. C., Saraiva, J. M., Hammer, T. B., Nazaryan-Petersen, L., Barakat, T. S., Wilke, M., Bhoj, E., Ahrens-Nicklas, R. C., Li, D., Nomakuchi, T., Brilstra, E. H. & Hunt, D. & 51 others, , Mar 2025, In: Genetics in medicine : official journal of the American College of Medical Genetics. 27, 3, 101348.Research output: Contribution to journal › Journal article › Research › peer-review
4 Citations (Scopus) -
A novel DOCK2 variant in siblings with severe combined immunodeficiency
Bruusgaard-Mouritsen, M. A., Masmas, T., Borgwardt, L., Nazaryan-Petersen, L., Heilmann, C., Madsen, H. O. & Marquart, H. V., Mar 2023, In: Scandinavian Journal of Immunology. 97, 3, 4 p., e13243.Research output: Contribution to journal › Letter › peer-review
1 Citation (Scopus) -
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease
Calame, D. G., Guo, T., Wang, C., Garrett, L., Jolly, A., Dawood, M., Kurolap, A., Henig, N. Z., Fatih, J. M., Herman, I., Du, H., Mitani, T., Becker, L., Rathkolb, B., Gerlini, R., Seisenberger, C., Marschall, S., Hunter, J. V., Gerard, A. & Heidlebaugh, A. & 32 others, , 3 Aug 2023, In: American Journal of Human Genetics. 110, 8, p. 1394-1413 20 p.Research output: Contribution to journal › Journal article › Research › peer-review
27 Citations (Scopus) -
Added Value of Reanalysis of Whole Exome- and Whole Genome Sequencing Data From Patients Suspected of Primary Immune Deficiency Using an Extended Gene Panel and Structural Variation Calling
Mørup, S. B., Nazaryan-Petersen, L., Gabrielaite, M., Reekie, J., Marquart, H. V., Hartling, H. J., Marvig, R. L., Katzenstein, T. L., Masmas, T. N., Lundgren, J., Murray, D. D., Helleberg, M. & Borgwardt, L., 2022, In: Frontiers in Immunology. 13, p. 1-11 11 p., 906328.Research output: Contribution to journal › Review › peer-review
15 Citations (Scopus) -
Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients
Rendtorff, N. D., Karstensen, H. G., Lodahl, M., Tolmie, J., McWilliam, C., Bak, M., Tommerup, N., Nazaryan-Petersen, L., Kunst, H., Wong, M., Joss, S., Carelli, V. & Tranebjærg, L., 2 Sept 2022, In: Scientific Reports. 12, 1, 14959.Research output: Contribution to journal › Journal article › Research › peer-review
5 Citations (Scopus)