Author

Desiree DeMille

ARUP Institute for Clinical and Experimental PathologyORCID 0000-0001-7924-3379Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Approach:statistical model· 1 Organism:zebrafish· 1

Frequent Co-Authors

Pınar Bayrak‐ToydemiriD· 2 shared Alberto Fernández‐JaéniD· 1 shared Aleš MaveriD· 1 shared Alexandra AfenjariD· 1 shared Alexandre ReymondiD· 1 shared Alfredo BruscoiD· 1 shared Amy E. Crunk· 1 shared Ange‐Line BrueliD· 1 shared

Activity by Year

2024-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

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2 shared papersGenetics

Pınar Bayrak‐ToydemirORCID

Mutual co-authors in cluster

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2 papers

Recent·Most cited

GeneticsbioRxivPreprintJan 19, 2026

ARID5B mutations cause a neurodevelopmental syndrome with neuroinflammation episodes

Hendrikus J. van Heesbeen, Nazim Rabouhi, Aurélie Gouronc…·Philippe M. Campeau

This study identifies ARID5B mutations as a cause of a neurodevelopmental syndrome with neuroinflammation episodes and describes clinical and functional consequences.

DOI 10.64898/2026.01.15.698931

humanexperimental assay

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Genetic & Genomic MedicinemedRxivPreprintJan 14, 2024

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini…·Alexandre Reymond

The paper identifies variant-specific effects of AFF3 on transcriptome profiles through analysis of patient cohorts and zebrafish models, showing distinct pathophysiological mechanisms for different types of AFF3 variants.

1 citation

humanzebrafish

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