Publikationer pr. år
Publikationer pr. år
Personlig profil
Kort præsentation
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.
Primære forskningsområder
- Identification and functional characterization of non-coding RNAs in cellular differentiation
- Epigenetics in human diseases
- Structural variation in the human genome
Ekspertise relateret til FN’s Verdensmål
I 2015 blev FN-landende enige om 17 Verdensmål til at standse fattigdom, beskytte planeten og sikre velstand for alle. Denne persons arbejde bidrager til følgende verdensmål:
Emneord
- Det Sundhedsvidenskabelige Fakultet
- Next Generation Sequencing
- Non-coding RNAs
- Epigenetics
- Neural differentiation
- Genomic structural variations
Fingeraftryk
Dyk ned i forskningsemnerne, hvor Mads Bak er aktive. Disse emneetiketter kommer fra dennes persons arbejder. Sammen danner de et unikt fingerprint.
- 8 Lignende profiler
Publikation
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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, I: Molecular Vision. 25, s. 1-11 11 s.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review
2 Downloads (Pure) -
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, I: European Journal of Human Genetics. 27, 8, s. 1296-1303 8 s.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › 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, I: Human Mutation.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › 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, I: Molecular Cancer. 17, 1, s. 1-6 6 s., 171.Publikation: Bidrag til tidsskrift › Kommentar/debat › Forskning › 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, I: Molecular Cytogenetics. 11, 8 s., 34.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › 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, I: PLOS ONE. 13, 10, 13 s., e0205298.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › 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, I: European Journal of Human Genetics. 26, 2, s. 186–196Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › 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 flere, , nov. 2018, I: PLOS Genetics. 14, 11, 25 s., e1007780.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review