Author

Jean‐Loup Méreaux

Centre National de la Recherche ScientifiqueORCID 0000-0002-4279-7252Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Assay:long-read sequencing· 1 Organism:mouse· 1 Approach:statistical model· 1

Frequent Co-Authors

Alexandra DürriD· 2 shared Henry HouldeniD· 2 shared A. Semra Hız· 1 shared Alexis BriceiD· 1 shared André NussenzweigiD· 1 shared Ayşe Miray OtoiD· 1 shared Bernard BraisiD· 1 shared Brandon J. GerhartiD· 1 shared

Activity by Year

2024-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 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

2 shared papersGenetics

Alexandra DürrORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Characterization of a novel neurodevelopmental rare disease caused by a mutation within the autophagy gene ATG9B

Seval Kılıç, Kerem Esmen, Jean‐Loup Méreaux, Ayşe Miray Oto, Tansu Bilge Kose, Melike Sever, Emine Eren‐Koçak, Şeyda Demir, A. Semra Hız, Erum Afzal, Zahra Firoozfar, Gökhan Karakülah, H. Alper BAGRIYANIK, Léna Guillot‐Noël, Giulia Coarelli, , M. Kasim Diril

The paper reports a novel neurodevelopmental disorder caused by a frameshift mutation in ATG9B, and characterizes its effects using cell models and knock-in mice.

Genes · Jun 5, 2026Peer-reviewedGenetics

Somatic instability of the FGF14-SCA27B GAA·TTC repeat reveals a marked expansion bias in the cerebellum

David Pellerin, Jean‐Loup Méreaux, Susana Boluda, Matt Christopher Danzi, Marie‐Josée Dicaire, Claire-Sophie Davoine, David Genı́s, Guinevere Spurdens, Catherine Ashton, J. W. Hammond, Brandon J. Gerhart, Viorica Chelban, Phuong Uyen Le, Maryam Safisamghabadi, Christopher Yanick, , Bernard Brais

This study examines somatic instability of the FGF14 GAA·TTC repeat in SCA27B, finding a cerebellar-specific expansion bias and increased instability in cerebellar regions compared to other brain areas.

Brain · Oct 7, 2024Peer-reviewedGenetic & Genomic Medicine