Author

Hassan Saei

InsermORCID 0000-0002-7345-7082Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 2 Research Focus:benchmarking· 1 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Corinne AntignaciD· 2 shared Guillaume DorvaliD· 2 shared Olivier GribouvaliD· 2 shared Vincent MorinièreiD· 2 shared Béatrice Ardin· 1 shared Bernt PoppiD· 1 shared Bertrand KnebelmanniD· 1 shared Bruno Estebe· 1 shared

Activity by Year

2025-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 32 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Corinne AntignacORCID

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3 papers

Recent·Most cited

Mapping intronic mutational hotspots by in silico mutagenesis enables single antisense oligonucleotide correction of multiple variants

Hassan Saei, Béatrice Ardin, Nicolas Kaiser, Mouad Ouahmane, Olivier Gribouval, Vincent Morinière, Manon Mautret‐Godefroy, Florian J. Wopperer, Korbinian Maria Riedhammer, Daniel Philip Gale, Omid Sadeghi‐Alavijeh, Claire Goursaud, Olivier Grunewald, Chloe Prosper, Louis Lebreton, , Guillaume Dorval

The paper identifies deep intronic mutational hotspots using in silico mutagenesis and demonstrates that a single antisense oligonucleotide can correct multiple variants causing X-linked Alport syndrome.

medRxiv · Sep 15, 2026 · PreprintGenetic & Genomic Medicine

MucOneUp: A Simulation Framework for MUC1-VNTR Variant Benchmarking

Bernt Popp, Hassan Saei

MucOneUp generates MUC1-VNTR reference sequences and simulated sequencing reads to benchmark variant calling tools across platforms.

bioRxiv · May 12, 2026 · PreprintBioinformatics

Therapeutic splice modulation of COL4A5 reinstates collagen IV assembly in an organoid model of X-linked Alport syndrome

Hassan Saei, Bruno Estebe, Nicolas Goudin, Mahsa Esmailpour, Julie Haure, Olivier Gribouval, Christelle Arrondel, Vincent Morinière, Pinyuan Tian, Rachel Lennon, Corinne Antignac, Géraldine Mollet, Guillaume Dorval

The paper demonstrates that ASO treatment restores 5(IV) collagen in XLAS patient-derived kidney organoids, supporting therapeutic potential for splicing modulation.

JCI Insight · Dec 18, 2025Peer-reviewedGenetics