Author

Stéphane Giraudier

InsermORCID 0000-0002-1817-2236Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Cancer Biology· 1 Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Approach:experimental assay· 2 Organism:human· 2 Approach:statistical model· 2 Research Focus:cell type annotation· 1 Research Focus:clustering· 1 Assay:DNA methylation· 1 Organism:mouse· 1

Frequent Co-Authors

Abigail R. MoyeiD· 1 shared Aline AntonioiD· 1 shared Ana Fernández BarandaiD· 1 shared Andrea Zanetti· 1 shared Andrew S. Kohlway· 1 shared Andrew Webster· 1 shared Anna M. Boguszewska‐ChachulskaiD· 1 shared Austin VarelaiD· 1 shared

Activity by Year

2025-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 18 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Abigail R. MoyeORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis.

Zoéline Mars, Andrea Zanetti, Karolina Kamińska, Takero Miyagawa, Duanya Liu, Aline Antonio, Gavin Arno, Isabelle S. Audo, Carmen Ayuso, Hafiz Muhammad Jafar Hussain, Xuan Bao, Pilar Barberán-Martínez, Béatrice Bocquet, Anna M. Boguszewska‐Chachulska, Christel Condroyer, , Isabelle Perrault

The paper identifies biallelic DDX41 variants in LCA/EOSRD patients and shows they disrupt retinal homeostasis through loss-of-function mechanisms in mouse models.

Genome Medicine · Oct 31, 2026Peer-reviewedGenetic & Genomic Medicine

Scalable genotyping in fixed transcriptomes resolves clonal heterogeneity via single-cell sequencing

Sydney B. Blattman, Nabih Maslah, Austin Varela, Karolis Kumpaitis, Benan N. Nalbant, Catherine Snopkowski, Marisa Mariani, Laura C. Kida, Meril T. Takizawa, Nalin Ratnayeke, Kenny Kwok Hei Yu, Sunjay Fernandes, Nima Mousavi, Erik Borgström, Derek Vallejo, , Caleb A. Lareau

GIFT enables high-accuracy genotyping in single cells, revealing mutation-dependent hematopoietic responses in MPN patients.

bioRxiv · Jul 3, 2026 · PreprintGenomics

Classical Myelo-Proliferative Neoplasms emergence and development based on real life incidence and mathematical modeling

Ana Fernández Baranda, Vincent Bansaye, Evelyne Lauret, Morgane Mounier, Valérie Ugo, Sylvie Méléard, Stéphane Giraudier

The paper uses mathematical modeling and real-world data to show that JAK2V617F mutations in MPNs emerge with age-dependent exponential rates and have distinct onset and expansion times between PV and ET.

bioRxiv · May 14, 2025 · PreprintCancer Biology