Author

Renske Janssen

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.

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Genetics· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Organism:zebrafish· 1

Frequent Co-Authors

Alexander P.A. StegmanniD· 1 shared Arnette Shi Wei WongiD· 1 shared Barry J. CoulliD· 1 shared Chernis Guai Mun Low· 1 shared David J. AmoriD· 1 shared Dominic GrussuiD· 1 shared Evelyn Yaqiong Tao· 1 shared Gabrielle R.A. Wilson· 1 shared

Activity by Year

2018-2018 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Alexander P.A. StegmannORCID

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1 paper

Recent·Most cited

Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype

Ivo J. H. M. de Vos, Evelyn Yaqiong Tao, Sheena L. M. Ong, Julian Goggi, Thomas S. Scerri, Gabrielle R.A. Wilson, Chernis Guai Mun Low, Arnette Shi Wei Wong, Dominic Grussu, Alexander P.A. Stegmann, Michel van Geel, Renske Janssen, David J. Amor, Melanie Bahlo, Norris Ray Dunn, , Maurice A. M. Van Steensel

The paper identifies a hypomorphic MMP14 mutation in Winchester syndrome and shows its catalytic activity determines disease severity using in vitro and zebrafish models.

Human Molecular Genetics · May 3, 2018Peer-reviewedGenetics