Author

Anna M. Boguszewska‐Chachulska

Genomed (Poland)ORCID 0009-0004-5421-8678Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Signature Assays, Organisms & Methods

Click to filter · or open tag

Research Focus:differential expression· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1 Organism:mouse· 1 Assay:proteomics· 1 Approach:statistical model· 1

Frequent Co-Authors

Abigail R. MoyeiD· 1 shared Aline AntonioiD· 1 shared Andrea Zanetti· 1 shared Andrew Webster· 1 shared Béatrice BocquetiD· 1 shared Carlo RivoltaiD· 1 shared Carmen AyusoiD· 1 shared Christel CondroyeriD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

1 shared paperGenetic & Genomic Medicine

Abigail R. MoyeORCID

Mutual co-authors in cluster

Author profile →

1 paper

Recent·Most cited

Genetic & Genomic MedicineGenome MedicinePeer-reviewedOct 31, 2026

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

Zoéline Mars, Andrea Zanetti, Karolina Kamińska…·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.

1 citation

mouseDNA methylation

𝕏 PostBluesky