Author

Karin Huijben

Radboud University Medical Center

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

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Research Focus:differential expression· 1 Organism:human· 1 Assay:proteomics· 1 Approach:statistical model· 1

Frequent Co-Authors

Angel AshikoviD· 1 shared Dirk J. LefeberiD· 1 shared Eveline C. F. GerretseniD· 1 shared Fokje Zijlstra· 1 shared Geert van den BogaartiD· 1 shared Kai MuruiD· 1 shared Katrin ÕunapiD· 1 shared Kimiyo RaymondiD· 1 shared

Activity by Year

2021-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

1 shared paperGenetic & Genomic Medicine

Angel AshikovORCID

Mutual co-authors in cluster

Author profile →

1 paper

Recent·Most cited

Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5

Peter T. A. Linders, Eveline C. F. Gerretsen, Angel Ashikov, Mari‐Anne Vals, Rinse de Boer, Natalia H. Revelo, Richard Arts, Melissa Baerenfaenger, Fokje Zijlstra, Karin Huijben, Kimiyo Raymond, Kai Muru, Olga Fjodorova, Sander Pajusalu, Katrin Õunap, , Geert van den Bogaart

This study identifies a congenital disorder of glycosylation caused by a missense variant in the second starting methionine of syntaxin-5, leading to loss of the short isoform and multisystem disease.

Nature Communications · Oct 28, 2021Peer-reviewedGenetic & Genomic Medicine