Author

Guillaume Dorval

Hôpital Necker-Enfants MaladesORCID 0000-0003-3883-1398Unclaimed 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 Approach:statistical model· 2 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 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Corinne AntignaciD· 2 shared Hassan SaeiiD· 2 shared Olivier GribouvaliD· 2 shared Vincent MorinièreiD· 2 shared Béatrice Ardin· 1 shared Bertrand KnebelmanniD· 1 shared Bruno Estebe· 1 shared Carsten BergmanniD· 1 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Corinne AntignacORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintSep 15, 2026

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

Hassan Saei, Béatrice Ardin, Nicolas Kaiser…·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.

DOI 10.64898/2026.09.10.26362533

humanDNA methylation

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GeneticsJCI InsightPeer-reviewedDec 18, 2025

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

Hassan Saei, Bruno Estebe, Nicolas Goudin…·Guillaume Dorval

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

5 citations

humanbulk RNA-seq

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