Author

Juliane S Mueller

Great Ormond Street Hospital

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

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Genetic & Genomic Medicine· 1

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Approach:benchmark study· 1 Assay:bulk RNA-seq· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Alba Segarra‐CasasiD· 1 shared Alexander HoischeniD· 1 shared Ana TöpfiD· 1 shared Andreas RoosiD· 1 shared Anna Esteve‐CodinaiD· 1 shared Anne‐Sophie Denommé‐PichoniD· 1 shared Antonio VitobelloiD· 1 shared Aurora PujoliD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alba Segarra‐CasasORCID

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1 paper

Recent·Most cited

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

Vicente A. Yépez, Rebeka Luknárová, Danique Beijer, Berta Estévez‐Arias, Davide Mei, Heba Morsy, Juliane S Mueller, Kiran Polavarapu, German M. Demidov, Cenna Doornbos, Kornelia Ellwanger, Leon Kraß, Steven Laurie, Leslie Matalonga, Ibrahim M. Abdelrazek, , 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.

medRxiv · Feb 14, 2026 · PreprintGenetic & Genomic Medicine