Author

Chloé Quēlin

Centre Hospitalier Universitaire de RennesORCID 0000-0002-1629-378XUnclaimed 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 Research Focus:gene regulatory network inference· 2 Approach:statistical model· 2 Approach:experimental assay· 1

Frequent Co-Authors

Boris KereniD· 2 shared Abdelamdjid Benmansour· 1 shared Alain VerloèsiD· 1 shared Albert David· 1 shared Alexandra AfenjariD· 1 shared Alexandre MathieuiD· 1 shared Alexandre ReymondiD· 1 shared Alexia BourgoisiD· 1 shared

Activity by Year

2017-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 19 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Boris KerenORCID

Mutual co-authors in cluster

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJun 20, 2025

Genetic variants disrupting activity-dependent CELF2 shuttling cause neuronal hyperexcitability, learning deficits, and seizures.

Michelle Hua, Mohamad‐Reza Aghanoori, Melissa J MacPherson…·Guang Yang

The paper identifies CELF2 variants causing cytoplasmic mislocalization linked to neuronal hyperexcitability, learning deficits, and seizures.

3 citations

humanexperimental assay

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintSep 29, 2022

Deleterious, protein-altering variants in the X-linked transcriptional coregulator ZMYM3 in 22 individuals with a neurodevelopmental delay phenotype

Susan M. Hiatt, Slavica Trajkova, Matteo Rossi Sebastiano…·Gregory M. Cooper

The paper identifies ZMYM3 variants in 22 individuals with neurodevelopmental delay, showing recurrent mutations, phenotypic overlap, and functional effects, supporting ZMYM3 as a novel NDD gene.

DOI 10.1101/2022.09.29.22279724

humanstatistical model

𝕏 PostBluesky

GeneticsbioRxivPreprintMar 18, 2017

A framework to identify modifier genes in patients with Phelan-McDermid syndrome

Anne‐Claude Tabet, Thomas Rolland, Marie Ducloy…·Thomas Bourgeron

This study identifies modifier genes in Phelan-McDermid syndrome patients by analyzing 22q13 rearrangements and their association with clinical features.

1 citation

humanstatistical model

𝕏 PostBluesky