Author

Joke Helena de Boer

Utrecht UniversityORCID 0000-0003-1712-3050Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 2 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Research Focus:GWAS / association mapping· 1 Assay:GWAS summary statistics· 1

Frequent Co-Authors

Jonas J. W. KuiperiD· 3 shared Sanne HiddinghiD· 3 shared Anneke I. den HollanderiD· 2 shared Roel A. OphoffiD· 2 shared Sara L. PulitiD· 2 shared Timothy R. D. J. RadstakeiD· 2 shared Alejandro Fonollosa· 1 shared Alfredo AdániD· 1 shared

Activity by Year

2017-2023 · peak 1/yr

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10 top collaborators · 42 mutual co-author links

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3 shared papersGenetics

Jonas J. W. KuiperORCID

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3 papers

Recent·Most cited

GenomicsbioRxivPreprintMar 3, 2023

A cis-regulatory element regulates ERAP2 expression through autoimmune disease risk SNPs

Wouter J. Venema, Sanne Hiddingh, Jorg van Loosdregt…·Jonas J. W. Kuiper

The paper identifies causal SNPs near ERAP2 that regulate its expression through long-range chromatin interactions, linking autoimmune disease risk variants to enhancer activity.

3 citations

humanDNA methylation

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GeneticsHuman Molecular GeneticsPeer-reviewedSep 10, 2018

Functionally distinct ERAP1 and ERAP2 are a hallmark of HLA-A29-(Birdshot) Uveitis.

Jonas J. W. Kuiper, Jessica van Setten, Matthew A.M. Devall…·Timothy R. D. J. Radstake

This study identifies functionally distinct ERAP1 and ERAP2 haplotypes associated with Birdshot Uveitis and shows their combined effect enhances disease risk.

57 citations

humanstatistical model

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GeneticsbioRxivPreprintAug 14, 2017

An Amino Acid Motif In HLA-DRB1 Distinguishes Patients With Uveitis In Juvenile Idiopathic Arthritis

Anne‐Mieke J. W. Haasnoot, MW Schilham, Sylvia S M Kamphuis…·Jonas J. W. Kuiper

The paper identifies serine-11 in HLA-DRB1 as a risk factor for uveitis in JIA, showing sex-specific association and peptide-binding preferences.

1 citation

humanGWAS summary statistics

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