Author

Florence Démurger

Centre hospitalier Bretagne AtlantiqueORCID 0000-0002-0421-0828Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:differential expression· 2 Assay:DNA methylation· 1 Approach:experimental assay· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Anne‐Sophie Denommé‐PichoniD· 2 shared Antonio VitobelloiD· 2 shared Laurence Olivier FaivreiD· 2 shared A. Kuechler· 1 shared A. Labudeck· 1 shared A. Petersen· 1 shared A. Vaknin-Dembinsky· 1 shared A. Waheeb· 1 shared

Activity by Year

2021-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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Curved chords = mutual co-authorship

2 shared papersGenetic & Genomic Medicine

Anne‐Sophie Denommé‐PichonORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintAug 18, 2025

Parkinson's disease and multiple system atrophy are gateways to RFC1-related disorders

Violette Delforge, Giulia Coarelli, Eugénie Mutez…·Vincent Huin

The paper screens patients with parkinsonism for RFC1 gene expansions and finds that Parkinson's disease and multiple system atrophy can be gateways to RFC1-related disorders.

DOI 10.1101/2025.08.18.25332961

humanwhole-exome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedAug 3, 2021

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

Jérémie Courraud, Eric Chater‐Diehl, Benjamin Durand…·Amélie Piton

The paper reclassifies DYRK1A variants using an integrative approach, showing some previously reported pathogenic variants do not cause obvious phenotypes.

39 citations

humanDNA methylation

𝕏 PostBluesky

GeneticsThe American Journal of Human GeneticsPeer-reviewedJan 28, 2021

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

Joery den Hoed, Elke de Boer, Norine Voisin…·Lisenka E.L.M. Vissers

The paper identifies mutation-specific pathophysiological mechanisms in SATB1 variants causing distinct neurodevelopmental disorders.

52 citationstop 2%

humanstatistical model

𝕏 PostBluesky