Author

Radek Szklarczyk

Maastricht University Medical Centre

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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Bioinformatics· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Assay:proteomics· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Aimee D. C. PaulusseniD· 1 shared Arthur van den Wijngaard· 1 shared Astrid S. PlompiD· 1 shared Barbara Knapp· 1 shared Brunella FrancoiD· 1 shared C. E. P. van Roozendaal· 1 shared Carolien N. van Oosterhoud· 1 shared Chunmei LiiD· 1 shared

Activity by Year

2019-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Aimee D. C. PaulussenORCID

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2 papers

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

CiliaCarta: An Integrated And Validated Compendium Of Ciliary Genes

Teunis J. P. van Dam, Julie E. Kennedy, Robin van der Lee, Erik de Vrieze, Kirsten A. Wunderlich, Suzanne Rix, Gerard W. Dougherty, Nils J. Lambacher, Chunmei Li, Victor L. Jensen, Michel R. Leroux, Rim Hjeij, Nicola Horn, Yves Texier, Yasmin Wissinger, , Martijn A. Huynen

The paper identifies 285 candidate ciliary genes using integrated genomic, proteomic, and transcriptomic data, validated by experimental evidence and creating a resource for ciliopathy research.

PLoS ONE · May 16, 2019Peer-reviewedBioinformatics