Author

Paul Kuentz

InsermORCID 0000-0003-2814-6303Unclaimed 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:experimental assay· 2 Approach:statistical model· 2 Assay:DNA methylation· 1 Research Focus:GWAS / association mapping· 1 Organism:mouse· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Benjamin CognéiD· 2 shared Bertrand IsidoriD· 2 shared Boris KereniD· 2 shared Cyril MignotiD· 2 shared Julien ThévenoniD· 2 shared Laurence Olivier FaivreiD· 2 shared Lydie BürgleniD· 2 shared Marie VincentiD· 2 shared

Activity by Year

2020-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Benjamin CognéORCID

Mutual co-authors in cluster

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintOct 14, 2026

Haploinsufficiency, de novo and biallelic missense variants in CSMD2 are associated with neurodevelopmental disorders

Clara Pailler-Pradeau, Marianne Victoria Lemée, Caterina Cevallos…·Alexandre Reymond

The paper identifies rare variants in CSMD2 associated with neurodevelopmental disorders, showing both recessive and dominant inheritance patterns and functional impairments.

DOI 10.64898/2026.09.24.26361611

humanstatistical model

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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

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GeneticsNeuronPeer-reviewedMar 4, 2020

Pathogenic DDX3X mutations impair RNA metabolism and neurogenesis during fetal cortical development

Ashley L. Lennox, Mariah L. Hoye, Ruiji Jiang…·Elliott H. Sherr

This study identifies DDX3X mutations as causing neurodevelopmental disorders by disrupting RNA metabolism and neurogenesis during fetal cortical development.

213 citationstop 1%

humanmouse

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