Author

Stefanie Henriet

Radboud University Medical CenterORCID 0009-0009-1284-6111Unclaimed 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 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:whole-exome sequencing· 2

Frequent Co-Authors

Alexander HoischeniD· 2 shared Annet SimonsiD· 2 shared Caspar I. van der MadeiD· 2 shared Frank L. van de VeerdonkiD· 2 shared Janneke H. M. Schuurs-HoeijmakersiD· 2 shared Mihai Gheorghe NeteaiD· 2 shared Alice Janssen· 1 shared Anne HebertiD· 1 shared

Activity by Year

2022-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 42 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alexander HoischenORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJun 14, 2024

Clinical exome sequencing data from patients with inborn errors of immunity: cohort level meta-analysis and the benefit of systematic reanalysis

Emil E. Vorsteveld, Caspar I. van der Made, Sanne P. Smeekens…·Alexander Hoischen

This study reanalyzes exome sequencing data from 1,300 IEI patients, finding that systematic reanalysis increases the molecular diagnostic yield from 11.8% to 15.2%.

2 citations

humanwhole-exome sequencing

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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

𝕏 PostBluesky