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Bioinformatics (Oxford, England)|September 19, 2025
Decipher RNA isoform combinations from minigene splicing assays and massive parallel sequencing with MAGICCamille Aucouturier, Nicolas Goardon, Laurent Castéra, et al.
Familial Cancer|February 7, 2025
Identification of a germline deep intronic PTEN-deletion leading to exonization through whole genome and targeted RNA sequencingMorgane Boedec, Camille Aucouturier, Mathias Cavaillé, et al.
The Journal of Molecular Diagnostics : JMD|July 25, 2025
Bridging the Diagnostic Gap in Hereditary Cancers with Simple, Cost-Effective, High-Throughput RNA Splicing AnalysisJulie Amiot, Corentin Levacher, Louise May Thibaut, et al.
BMC Genomics|September 30, 2024
Fine mapping of RNA isoform diversity using an innovative targeted long-read RNA sequencing protocol with novel dedicated bioinformatics pipelineCamille Aucouturier, Nicolas Soirat, Laurent Castéra, et al.
NPJ Genomic Medicine|July 31, 2025
A founder BRCA1 exonic duplication involving breakpoint in T2T reference genome-specific region results in constitutional fusion transcriptMathias Schwartz, Mathilde Filser, Kevin Merchadou, et al.
Human Mutation|October 23, 2022
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicingRaphaël Leman, Béatrice Parfait, Dominique Vidaud, et al.
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