Author

Sylvie Mazoyer

Lyon 1 UniversitéORCID 0000-0002-2135-0160Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 3 Genetics· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 3 Approach:statistical model· 3 Assay:bulk RNA-seq· 2 Research Focus:differential expression· 2 Approach:experimental assay· 2 Organism:zebrafish· 2 Research Focus:cell type annotation· 1 Research Focus:database / resource· 1

Frequent Co-Authors

Alicia BessoniD· 3 shared Justine GuguiniD· 3 shared Marion DelousiD· 3 shared Audrey PutouxiD· 2 shared Audric CologneiD· 2 shared Deepak KhatriiD· 2 shared Eloïse BertiauxiD· 2 shared Patrick EderyiD· 2 shared

Activity by Year

2023-2026 · peak 2/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

3 shared papersGenetic & Genomic Medicine

Alicia BessonORCID

Mutual co-authors in cluster

Author profile →

4 papers

Recent·Most cited

u4atac regulates cilium biogenesis through splicing of the minor intron of tmem107l and rfx7b in zebrafish developing brain

Cyril Jovani, Alexia Rabec, Marianne Gaubert, Deepak Khatri, Emma Garnier, Audric Cologne, Anne Meiller, Justine Guguin, Alicia Besson, Sylvie Mazoyer, Marion Delous

The paper identifies TMEM107 and RFX7 as key genes regulated by U4atac that contribute to ciliary defects and brain development issues in zebrafish.

bioRxiv · Aug 24, 2026 · PreprintGenetics

Guidance for clinical variant classification in genes for spliceosomal small nuclear RNAs

Elston N. D’Souza, Alexander J. M. Blakes, Robin Paluch, Siddharth Banka, Maya Chopra, Alison J. Coffey, Christel Depienne, Wojciech P. Galej, Sylvie Mazoyer, Caroline Nava, Anne O’Donnell‐Luria, Jillian O'Toole, Pia Riestra Crespo, Carlo Rivolta, Stephan J Sanders, Nicola Whiffin

The paper provides guidance for classifying variants in snRNA genes and introduces RNUdb, a tool to support variant annotation and classification.

medRxiv · Aug 4, 2026 · PreprintGenetic & Genomic Medicine

A TALS-like associated RTTN mutation impedes neural rosette formation in human cortical organoids

Justine Guguin, Ting-Yu Chen, Alicia Besson, Silvestre Cuinat, Eloïse Bertiaux, Lucile Boutaud, Nolan Ardito, Miren Imaz Murguiondo, Sara Cabet, Virginie Hamel, Sophie Thomas, Bertrand Pain, Patrick Edery, Audrey Putoux, Tang K. Tang, , Marion Delous

This study identifies an RTTN mutation that impairs neural rosette formation in human cortical organoids, linking it to microcephaly-like defects.

PLoS Genetics · Dec 16, 2024Peer-reviewedGenetic & Genomic Medicine

Deficiency of U4atac snRNA secondarily results in ciliary defects

Deepak Khatri, Audrey Putoux, Audric Cologne, Sophie Kaltenbach, Alicia Besson, Eloïse Bertiaux, Justine Guguin, Adèle Fendler, Marie Alice Dupont, Clara Benoit‐Pilven, Leila Qebibo, Samira Ahmed-Elie, Séverine Audebert‐Bellanger, Pierre Blanc, Thomas Rambaud, , Marion Delous

The paper identifies a mutation in RNU4ATAC causing ciliary defects in patients with TALS/RFMN/LWS and Joubert syndrome, linking minor splicing defects to ciliary dysfunction.

Proceedings of the National Academy of Sciences · Feb 21, 2023Peer-reviewedGenetic & Genomic Medicine