Author

Andrea Zanetti

Inserm

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Approach:experimental assay· 2 Organism:mouse· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Assay:DNA methylation· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1

Frequent Co-Authors

Carlo RivoltaiD· 2 shared Ida Chiara GuerreraiD· 2 shared Isabelle PerraultiD· 2 shared Isabelle S. AudoiD· 2 shared Jérôme E. RogeriD· 2 shared Karolina KamińskaiD· 2 shared Lucas Fares‐TaieiD· 2 shared Mathieu QuinodoziD· 2 shared

Activity by Year

2023-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Carlo RivoltaORCID

Mutual co-authors in cluster

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2 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

GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment

Andrea Zanetti, Lucas Fares‐Taie, Jeanne Amiel, Jérôme E. Roger, Isabelle S. Audo, Matthieu P. A. Robert, Pierre David, Vincent A. Jung, Nicolas Goudin, Ida Chiara Guerrera, Stéphanie Moriceau, Danielle Amana, Nathalie Boddaert, Sylvain Briault, Ange‐Line Bruel, , Isabelle Perrault

This study identifies GPATCH11 variants causing mis-splicing and early-onset retinal dystrophy with neurological impairment through patient analysis, fibroblast studies, and a mouse model.

medRxiv · Aug 19, 2023 · PreprintGenetic & Genomic Medicine