Mireille Cossée

18PUBLICATIONS
49CO-AUTHORS
Genomics and transcriptomicsEpigenetics (incl. genome methylation and epigenomics)Psychosocial aspects of childbirth and perinatal mental healthGene mappingElectrical energy transmission, networks and systems
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Publications (18)

|Jun 26, 2026
Decoding splicing variants in high-throughput sequencing: a functional validation approach integrating deep learning tools.

|Dec 17, 2024
Congenital Titinopathies Linked to Mutations in TTN Metatranscript-Only Exons.

Aurélien Perrin, Rocio Garcia-Uzquiano, Tanya Stojkovic

|Jul 16, 2024
Confined placental mosaicism is a diagnostic pitfall in dystrophinopathies: a clinical report.

Quentin Sabbagh, Marion Larrieux, Anouck Schneider

|Jul 05, 2024
Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa.

Christel Vaché, Valérie Faugère, David Baux

|Jun 03, 2024
Mosaic EGFR exon 20 in-frame insertion pathogenic variants are associated with papular epidermal naevus with 'skyline' basal cell layer (PENS).

Didier Bessis, Laura Poujade, Mireille Cossée

|May 04, 2024
Primary mitochondrial disorders and mimics: Insights from a large French cohort.

Cécile Rouzier, Emmanuelle Pion, Annabelle Chaussenot

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Frequent Collaborators

3 joint publications

Charles Van Goethem

3 joint publications

John Rendu

2 joint publications

Mathieu Cerino

2 joint publications

Pascal Cintas