Author

Maaike Vreeburg

Maastricht University Medical CentreORCID 0000-0003-0333-7082Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Research Focus:GWAS / association mapping· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Han G. BrunneriD· 2 shared Aimee D. C. PaulusseniD· 1 shared Alexander P.A. StegmanniD· 1 shared Arthur van den Wijngaard· 1 shared Astrid S. PlompiD· 1 shared Bert B.A. de Vries· 1 shared C. E. P. van Roozendaal· 1 shared Carolien N. van Oosterhoud· 1 shared

Activity by Year

2016-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Han G. BrunnerORCID

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2 papers

Recent·Most cited

Genetic & Genomic Medicinenpj Genomic MedicinePeer-reviewedNov 15, 2021

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

Roelof Koster, Rita D. Brandão, Demis Tserpelis…·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.

27 citations

humanbulk RNA-seq

𝕏 PostBluesky

GeneticsbioRxivMay 11, 2016

Meta-analysis of 2,104 trios provides support for 10 novel candidate genes for intellectual disability

Stefan H. Lelieveld, Margot R.F. Reijnders, Rolph Pfundt…·Christian Gilissen

This study identifies 10 novel candidate genes for intellectual disability through a meta-analysis of de novo mutations from 2,104 trios.

DOI 10.1038/nn.4352

humanwhole-exome sequencing

𝕏 PostBluesky