Author

Gaël Manès

InsermORCID 0000-0003-1871-0636Unclaimed 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 Research Focus:benchmarking· 1 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Assay:proteomics· 1 Assay:scRNA-seq· 1

Frequent Co-Authors

Alaa AlTalbishiiD· 1 shared Alejandro GarantoiD· 1 shared Alex William HewittiD· 1 shared Alexander BarnettiD· 1 shared Alexander HoischeniD· 1 shared Alexis Ceecee Britten‐JonesiD· 1 shared Alice PébayiD· 1 shared Alison J. HardcastleiD· 1 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alaa AlTalbishiORCID

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2 papers

Recent·Most cited

GeneticsGenome MedicinePeer-reviewedMay 9, 2026

Patient induced pluripotent stem cells identify specificities of a reticular pseudodrusen phenotype in age-related macular degeneration

Jenna C. Hall, Kavitha Krishna Sudhakar, Maciej Daniszewski…·Alice Pébay

The paper uses iPSC-derived RPE cells to compare molecular differences between AMD with and without reticular pseudodrusen, identifying distinct pathways and genetic influences.

1 citation

humanscRNA-seq

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Genetic & Genomic MedicinemedRxivPreprintJan 6, 2025

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvačková…·Gaël Manès

The paper identifies de novo and inherited variants in U4 and U6 snRNAs causing retinitis pigmentosa and shows their impact on snRNP biogenesis.

15 citations

human

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