Author

Mattijn Wagt

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.

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Genetic & Genomic Medicine· 1

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Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Caroline Fiona WrightiD· 1 shared Christian GilisseniD· 1 shared Erwan DelageiD· 1 shared Gelana KhazeevaiD· 1 shared Han G. BrunneriD· 1 shared Helen V. FirthiD· 1 shared Helger G. YntemaiD· 1 shared Hilary C. MartiniD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Caroline Fiona WrightORCID

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1 paper

Recent·Most cited

Incompletely penetrant protein-truncating variants confer developmental disorder risk through partial reductions in gene expression

Juliet E. Hampstead, Erwan Delage, Gelana Khazeeva, Mattijn Wagt, Rolph E Pfundt, Tessa De Wijs, Petr Danecek, Sebastian S. Gerety, Helger G. Yntema, Hilary C. Martin, Sarah Lindsay, Han G. Brunner, Helen V. Firth, Caroline Fiona Wright, Matthew E. Hurles, Christian Gilissen

The paper shows inherited protein-truncating variants contribute to developmental disorders through partial gene expression loss, affecting ~20% of children with such variants.

medRxiv · Oct 24, 2026 · PreprintGenetic & Genomic Medicine