Author

Pilar Barberán-Martínez

Instituto de Salud Carlos IIIORCID 0000-0002-3604-7068Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Biochemistry· 1 Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:chromatin & epigenetic regulation· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Organism:human· 1

Frequent Co-Authors

Carlo RivoltaiD· 3 shared Gema García‐GarcíaiD· 3 shared José María MillániD· 3 shared Karolina KamińskaiD· 3 shared Mathieu QuinodoziD· 3 shared Béatrice BocquetiD· 2 shared Carmen AyusoiD· 2 shared Lidia Fernández‐CaballeroiD· 2 shared

Activity by Year

2025-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Carlo RivoltaORCID

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

COQ8 chaperones coenzyme Q lipid intermediates through ATP-driven structural gating

Andrea Gottinger, Marco Malatesta, Callum R. Nicoll, Georg Ansari, Mathieu Quinodoz, Karolina Kamińska, Rachael W. C. Tang, Tien‐En Tan, Beau James Fenner, Pilar Barberán-Martínez, Gema García‐García, José María Millán, Maximilian Pfau, Natalie E Burbach, Domiziana Cecchini, , Andrea Mattevi

This study identifies COQ8 as a chaperone that facilitates coenzyme Q biosynthesis by ATP-driven structural gating of intermediates.

Science Advances · Jul 29, 2026Peer-reviewedBiochemistry

RetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs)

Mathieu Quinodoz, Elifnaz Çelik, Dhryata Kamdar, Francesca Cancellieri, Karolina Kamińska, Mukhtar Ullah, Pilar Barberán-Martínez, Manon Bouckaert, Marta Cortón, Emma Delanote, Lidia Fernández‐Caballero, Gema García‐García, Lara K. Holtes, Marianthi Karali, Irma López, , Carlo Rivolta

RetiGene provides a curated gene atlas for inherited retinal diseases, integrating variant data and RNA sequencing to support gene prioritization and therapeutic development.

bioRxiv · Jun 8, 2025 · PreprintGenetics