Author

Robin Wijngaard

Radboud University Medical CenterORCID 0000-0002-0138-5833Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Assay:proteomics· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Clara van KarnebeekiD· 2 shared Alexander HoischeniD· 1 shared Alfredo Cabrera‐OreficeiD· 1 shared Ana Isabel Vega Pajares· 1 shared Andrea Katrinecz· 1 shared Andrea Sariego JamardoiD· 1 shared Andrew David MumfordiD· 1 shared Ángel CarracedoiD· 1 shared

Activity by Year

2025-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Clara van KarnebeekORCID

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2 papers

Recent·Most cited

Complexome profiling showed impaired immunoproteasome assembly in a novel PRAAS subtype caused by monoallelic PSMB8 variants

Robin Wijngaard, Caspar I. van der Made, Sema Kalkan Uçar, Gayatri Ramakrishnan, Jill Anne Rosenfeld, Tiphanie P. Vogel, Sarah K. Nicholas, Monika Weisz‐Hubshman, Undiagnosed Diseases Network, Alfredo Cabrera‐Orefice, Bente Siebels, Thomas Mair, Hartmut Schlüter, Ruben L. Smeets, Ronald van Beek, , Sergio Guerrero‐Castillo

The paper identifies monoallelic PSMB8 variants causing impaired immunoproteasome assembly and a novel PRAAS subtype with immunodeficiency.

medRxiv · Jun 25, 2025 · PreprintGenetic & Genomic Medicine

Mutations in the U2 snRNA gene RNU2-2P cause a severe neurodevelopmental disorder with prominent epilepsy

Daniel Greene, Koenraad De Wispelaere, Jonathan Gill Lees, Marta Codina‐Solà, Brynjar Ö. Jensson, Emma Hales, Andrea Katrinecz, Esther Nieto Molina, Sónia Pascoal, Rolph Pfundt, Rachel Schot, Marta Sevilla Porras, Frank Sleutels, Irene Valenzuela, Robin Wijngaard, , Ernest Turro

The paper identifies recurrent mutations in the RNU2-2P gene, which encodes U2 snRNA, as a cause of a severe neurodevelopmental disorder with prominent epilepsy.

Nature Genetics · Apr 10, 2025Peer-reviewedGenetic & Genomic Medicine