Author

Esther Hoppenreijs

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

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alexander HoischeniD· 1 shared Anne HebertiD· 1 shared Annet SimonsiD· 1 shared Caspar I. van der MadeiD· 1 shared Ellen J. H. SchatorjéiD· 1 shared Erika K. S. M. LeendersiD· 1 shared Esther van RijsseniD· 1 shared Etienne J. M. JansseniD· 1 shared

Activity by Year

2022-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alexander HoischenORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineeLifePeer-reviewedOct 7, 2022

Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: a retrospective cohort study

Anne Hebert, Annet Simons, Janneke H. M. Schuurs-Hoeijmakers…·Caspar I. van der Made

This study evaluates the diagnostic value of trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity, identifying DNVs in immune-related genes and providing functional evidence for FBXW11 mutations.

13 citations

humanwhole-exome sequencing

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