Author

Jose César Milisenda

Centre for Biomedical Network Research on Rare DiseasesORCID 0000-0003-0151-7872Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Immunology· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:benchmark study· 1 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Assay:proteomics· 1

Frequent Co-Authors

Adam I. SchiffenbaueriD· 1 shared Alba Segarra‐CasasiD· 1 shared Albert Selva-O’CallaghaniD· 1 shared Alexander HoischeniD· 1 shared Ana TöpfiD· 1 shared Andreas RoosiD· 1 shared Andrew Lee MammeniD· 1 shared Anna Esteve‐CodinaiD· 1 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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1 shared paperImmunology

Adam I. SchiffenbauerORCID

Mutual co-authors in cluster

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintFeb 14, 2026

Standardized transcriptome analysis improves rare disease diagnosis in the pan-European Solve-RD consortium

Vicente A. Yépez, Rebeka Luknárová, Danique Beijer…·Julien Gagneur

The paper presents a standardized RNA-seq analysis framework for rare disease diagnosis, identifying molecular diagnoses in 7.7% of previously undiagnosed cases.

1 citation

humanbulk RNA-seq

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ImmunologybioRxivPreprintJan 15, 2025

Myositis-specific autoantibodies recognizing Mi2 also target the autoimmune regulator (AIRE) protein at a shared PHD-zinc finger

Jon Musai, Sahana Jayaraman, Katherine S. Pak…·Andrew Lee Mammen

This study identifies that anti-Mi2 autoantibodies also target AIRE at a shared PHD1 domain, disrupting NuRD complex function by interfering with nucleosome anchoring.

1 citation

humanproteomics

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