Author

M. J. Louwers

Ziekenhuis Bernhoven

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Aimee D. C. PaulusseniD· 1 shared Arthur van den Wijngaard· 1 shared Astrid S. PlompiD· 1 shared C. E. P. van Roozendaal· 1 shared Carolien N. van Oosterhoud· 1 shared Constance T.R.M. Schrander-Stumpel· 1 shared Demis Tserpelis· 1 shared Floor A.M. DuijkersiD· 1 shared

Activity by Year

2021-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Aimee D. C. PaulussenORCID

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1 paper

Recent·Most cited

Pathogenic Neurofibromatosis type 1 (NF1) RNA-splicing resolved by targeted RNAseq

Roelof Koster, Rita D. Brandão, Demis Tserpelis, C. E. P. van Roozendaal, Carolien N. van Oosterhoud, Kathleen Claes, Aimee D. C. Paulussen, Margje Sinnema, Maaike Vreeburg, Vyne van der Schoot, Constance T.R.M. Schrander-Stumpel, Martinus P. G. Broen, Liesbeth Spruijt, Marjolijn C.J. Jongmans, Saskia A.J. Lesnik Oberstein, , Marinus J. Blok

This paper develops a targeted RNAseq approach to detect pathogenic RNA splicing variants in NF1, identifying novel splicing events and confirming splice variants in patients with NF1 symptoms.

npj Genomic Medicine · Nov 15, 2021Peer-reviewedGenetic & Genomic Medicine