Author

Etienne J. M. Janssen

Leiden University Medical CenterORCID 0009-0005-4389-6040Unclaimed 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:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:mouse· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Ajaz Ahmad BhatiD· 1 shared Akihiko SaitoiD· 1 shared Alexander HoischeniD· 1 shared Aljazi Al-Maraghi· 1 shared Ammira Al‐Shabeeb AkiliD· 1 shared Anne HebertiD· 1 shared Annet SimonsiD· 1 shared Aya YoshidaiD· 1 shared

Activity by Year

2022-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Ajaz Ahmad BhatORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintAug 17, 2024

The congenital multiple organ malformation syndrome, Ritscher-Schinzel syndrome is an endosomal recyclinopathy

Kohji Kato, Yosuke Nishio, Kirsty J. McMillan…·Peter J. Cullen

This study identifies RSS as a recyclinopathy caused by dysfunction in the Commander endosomal recycling pathway, linking it to multiple tissue malformations.

2 citations

humanmouse

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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

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