Research output per year
Research output per year
Personal profile
Research areas
- Genetics
- Breast cancer
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Dive into the research topics where Martin Jakob Larsen is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Research output
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Detection of DZIP1L mutations by whole-exome sequencing in consanguineous families with polycystic kidney disease
Hertz, J. M., Svenningsen, P., Dimke, H., Engelund, M. B., Nørgaard, H., Hansen, A., Marcussen, N., Thiesson, H. C., Bergmann, C. & Larsen, M. J., 24. Feb 2022, (E-pub ahead of print) In: Pediatric Nephrology.Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile3 Downloads (Pure) -
Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder
Melland, H., Bumbak, F., Kolesnik-Taylor, A., Ng-Cordell, E., John, A., Constantinou, P., Joss, S., Larsen, M., Fagerberg, C., Laulund, L. W., Thies, J., Emslie, F., Willemsen, M., Kleefstra, T., Pfundt, R., Barrick, R., Chang, R., Loong, L., Alfadhel, M., van der Smagt, J. & 6 others, , Apr 2022, In: Genetics in medicine : official journal of the American College of Medical Genetics. 24, 4, p. 880-893Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile -
Mutations affecting the N-terminal domains of SHANK3 point to different pathomechanisms in neurodevelopmental disorders
Woike, D., Wang, E., Tibbe, D., Hassani Nia, F., Failla, A. V., Kibæk, M., Overgård, T. M., Larsen, M. J., Fagerberg, C. R., Barsukov, I. & Kreienkamp, H-J., 18. Jan 2022, In: Scientific Reports. 12, 902.Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile -
Whole genome sequencing identifies rare genetic variants in familial pancreatic cancer patients
Tan, M., Brusgaard, K., Gerdes, A-M., Larsen, M. J., Mortensen, M. B., Detlefsen, S., de Muckadell, O. B. S. & Joergensen, M. T., 21. Mar 2022, (E-pub ahead of print) In: Annals of Human Genetics.Research output: Contribution to journal › Journal article › Research › peer-review
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Comparison of the Metastasis Predictive Potential of mRNA and Long Non-Coding RNA Profiling in Systemically Untreated Breast Cancer
Do, T. T. N., Block, I., Burton, M., Sørensen, K. P., Larsen, M. J., Bak, M., Cold, S., Thomassen, M., Tan, Q. & Kruse, T. A., 1. Oct 2021, In: Cancers . 13, 19, 4907.Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile13 Downloads (Pure)
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