Author

Pauline Monin

Hospices Civils de LyonORCID 0000-0002-8813-2053Unclaimed 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:variant calling· 2 Assay:whole-genome sequencing· 2 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Nicolas ChatroniD· 2 shared Undiagnosed Diseases Network· 2 shared Afif Ben‐MahmoudiD· 1 shared Alain VerloèsiD· 1 shared Alisée Pengam· 1 shared Amit SinghiD· 1 shared Anita M. RauchiD· 1 shared Anne M. ComiiD· 1 shared

Activity by Year

2020-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Nicolas ChatronORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintMar 31, 2025

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder

Eric Nathaniel Anderson, Stephan Drukewitz, Sukhleen Kour…·Konrad Platzer

This study identifies de novo KDM2A variants as a cause of a syndromic neurodevelopmental disorder with specific clinical features and functional consequences.

2 citations

humanwhole-exome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintJan 31, 2024

Novel syndromic neurodevelopmental disorder caused by de novo deletion of CHASERR, a long noncoding RNA

Vijay S Ganesh, Kevin Riquin, Nicolas Chatron…·Anne O’Donnell‐Luria

The paper identifies a novel neurodevelopmental disorder caused by de novo deletion of the lncRNA CHASERR, showing its role in regulating CHD2 expression and causing developmental and epileptic encephalopathy.

6 citations

humanDNA methylation

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GeneticsbioRxivPreprintApr 3, 2020

Genome wide analysis of gene dosage in 24,092 individuals shows that 10,000 genes modulate cognitive ability

Guillaume Huguet, Catherine Schramm, Elise A. Douard…·Sébastien Jacquemont

The paper quantifies the effect of copy number variants on cognitive ability using genomic data from 24,092 individuals, finding that 10,000 genes modulate intelligence.

4 citations

humanwhole-genome sequencing

𝕏 PostBluesky