Research output per year
Research output per year
Personal profile
Short presentation
Over the past 6 years, the advent of next generation sequencing technologies has dramatically increased the speed of DNA sequencing. These technologies have revealed that transcriptomes are far more complex than previously thought. Many new RNA families have been described and new RNA species are continuously being identified. However, the function of most of them are largely unknown.
I am interested in how these RNAs are involved in cellular differentiation and especially in neural differentiation.
Primary fields of research
- Identification and functional characterization of non-coding RNAs in cellular differentiation
- Epigenetics in human diseases
- Structural variation in the human genome
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
Keywords
- Faculty of Health and Medical Sciences
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Research output
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A splice-site variant in the lncRNA gene RP1-140A9.1 cosegregates in the large Volkmann cataract family
Eiberg, H., Mikkelsen, A. F., Bak, M., Tommerup, N., Lund, A. M., Wenzel, A., Sabarinathan, R., Gorodkin, J., Bang-Berthelsen, C. H. & Hansen, L., 2019, In: Molecular Vision. 25, p. 1-11 11 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Haploinsufficiency of ARHGAP42 is associated with hypertension
Fjorder, A. S., Rasmussen, M. B., Mehrjouy, M. M., Nazaryan-Petersen, L., Hansen, C., Bak, M., Grarup, N., Nørremølle, A., Larsen, L. A., Vestergaard, H., Hansen, T., Tommerup, N. & Bache, I., 1 Aug 2019, In: European Journal of Human Genetics. 27, 8, p. 1296-1303 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome
Nazaryan-Petersen, L., Oliveira, I. R., Mehrjouy, M. M., Mendez, J. M. M., Bak, M., Bugge, M., Kalscheuer, V. M., Bache, I., Hancks, D. C. & Tommerup, N., 2019, In: Human Mutation.Research output: Contribution to journal › Journal article › Research › peer-review
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Aggressiveness of non-EMT breast cancer cells relies on FBXO11 activity
Bagger, S. O., Hopkinson, B. M., Pandey, D. P., Bak, M., Brydholm, A. V., Villadsen, R., Helin, K., Rønnov-Jessen, L., Petersen, O. W. & Kim, J., 2018, In: Molecular Cancer. 17, 1, p. 1-6 6 p., 171.Research output: Contribution to journal › Comment/debate › Research › peer-review
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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, N. & Sismani, C., 2018, In: Molecular Cytogenetics. 11, 8 p., 34.Research output: Contribution to journal › Journal article › Research › peer-review
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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, N. & Sismani, C., 2018, In: PLOS ONE. 13, 10, 13 p., e0205298.Research output: Contribution to journal › Journal article › Research › peer-review
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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, N., 2018, In: European Journal of Human Genetics. 26, 2, p. 186–196Research output: Contribution to journal › Journal article › Research › peer-review
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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, Nov 2018, In: PLOS Genetics. 14, 11, 25 p., e1007780.Research output: Contribution to journal › Journal article › Research › peer-review