Research output per year
Research output per year
Personal profile
Research areas
- Genetics
- Breast cancer
Fingerprint
Fingerprints are formed from scientific publications and create an index of weighted keyword concepts for each individual researcher.
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Network
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
Research output
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CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
Gehin, C., Lone, M. A., Lee, W., Capolupo, L., Ho, S., Adeyemi, A. M., Gerkes, E. H., Stegmann, A. P., López-Martín, E., Bermejo-Sánchez, E., Martínez-Delgado, B., Zweier, C., Kraus, C., Popp, B., Strehlow, V., Gräfe, D., Knerr, I., Jones, E. R., Zamuner, S., Abriata, L. A., & 65 others, 15. May 2023, In: The Journal of clinical investigation. 133, 10, e165019.Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile -
Compromised PAR1 activation - a cause for bleeding in XMEN?
Nielsen, C., Nilsson, C., Assing, K., Herlin, M. K. K., Skakkebæk, A., Larsen, M., Rathe, M., Beck, H. C. & Vinholt, P. J., Jun 2023, In: Thrombosis and Haemostasis. 123, 6, p. 641-644Research output: Contribution to journal › Journal article › Research › peer-review
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Integrated exome and transcriptome analysis prioritizes MAP4K4 de novo frameshift variants in autism spectrum disorder as a novel disease–gene association
Cesana, M., Vaccaro, L., Larsen, M. J., Kibæk, M., Micale, L., Riccardo, S., Annunziata, P., Colantuono, C., Di Filippo, L., De Brasi, D., Castori, M., Fagerberg, C., Acquaviva, F. & Cacchiarelli, D., Mar 2023, In: Human Genetics. 142, 3, p. 343-350Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile2 Downloads (Pure) -
nanoNIPT: Short-fragment nanopore sequencing of cell-free DNA for non-invasive prenatal testing of fetal aneuploidies and sex chromosome aberrations
Jørgensen, M. W., Miceikaitė, I. & Larsen, M. J., Mar 2023, In: Prenatal Diagnosis. 43, 3, p. 314-317Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile38 Downloads (Pure) -
Ryanodine receptor 1 related myasthenia like myopathy responsive to pyridostigmine
Lester, E. B., Larsen, M. J., Laulund, L. W., Illum, N., Dunkhase-Heinl, U., Schrøder, H. D. & Fagerberg, C. R., Mar 2023, In: European Journal of Medical Genetics. 66, 3, 104706.Research output: Contribution to journal › Journal article › Research › peer-review
Activities
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Genome Medicine (Journal)
Martin Jakob Larsen (Peer reviewer)
2016Activity: Editorial work and peer review › Peer review of manuscripts › Research
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Neonatal high none mass with heterozygous ”de novo” missense mutation i RELA/(RelA/p65)
Anja Lisbeth Frederiksen (Guest lecturer), Martin Jakob Larsen (Guest lecturer), Klaus Brusgaard (Guest lecturer), D. Novack (Guest lecturer), Peter Juel Thiis Knudsen (Guest lecturer), Henrik Daa Schrøder (Guest lecturer), Christina Eckhardt (Guest lecturer), William H McAlister (Guest lecturer), Moustapha Kassem (Guest lecturer), Morten Frost (Guest lecturer) & Michael P Whyte (Guest lecturer)
26. Apr 2015Activity: Talks and presentations › Conference presentations
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NGS 2014 Nordic
Martin Jakob Larsen (Participant)
20. Nov 2014Activity: Attending an event › Organisation or participation in workshops, courses or seminars
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Årsmøde i Dansk Selskab for Medicinsk Genetik 2014
Martin Jakob Larsen (Participant)
7. Nov 2014Activity: Attending an event › Organisation or participation in workshops, courses or seminars
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DSMOME Seminar: Current status on the clinical use of NGS in Denmark
Martin Jakob Larsen (Participant)
28. Oct 2014Activity: Attending an event › Organisation or participation in workshops, courses or seminars
Press/Media
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Fremtidssikret forskning fører til ny viden om arvelig brystkræft
09/11/2013
1 Media contribution
Press/Media: Press / Media