Author

Vivien Béziat

Hôpital Necker-Enfants MaladesORCID 0000-0002-4020-824XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 2 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 3 Organism:human· 3 Approach:statistical model· 3 Research Focus:gene regulatory network inference· 2 Research Focus:variant effect prediction· 2 Research Focus:benchmarking· 1 Assay:bulk RNA-seq· 1 Approach:experimental assay· 1

Frequent Co-Authors

Anne PueliD· 3 shared Jean‐Laurent CasanovaiD· 3 shared Bertrand BoissoniD· 2 shared Emmanuelle JouanguyiD· 2 shared Étienne PatiniD· 2 shared Isabelle MeytsiD· 2 shared Jacinta C. BustamanteiD· 2 shared Jérémie RosainiD· 2 shared

Activity by Year

2021-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetics

Anne PuelORCID

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3 papers

Recent·Most cited

GeneticsThe Journal of Experimental MedicinePeer-reviewedJul 9, 2026

✦ In-depth digest

Humans homozygous for rare or common hypomorphic IL23R variants are prone to tuberculosis

Diana Olguín-Calderón, Laura E. Kilpatrick, Clément Conil…·Stéphanie Boisson‐Dupuis

Homozygosity for hypomorphic IL23R variants (G149R, G300V, R381Q) partly impairs IL-23-dependent IFN-γ production in patient cells; with L372F (effect inferred), they are enriched in tuberculosis, not MSMD or CMC patients.

1 citation

humanwhole-exome sequencing

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Genetic & Genomic MedicineThe Journal of Experimental MedicinePeer-reviewedFeb 10, 2023

Human Germline Heterozygous Gain-of-Function STAT6 Variants Cause Severe Allergic Disease

Mehul Sharma, Daniel Leung, Mana Momenilandi…·Stuart E. Turvey

This study identifies heterozygous gain-of-function STAT6 variants in two patients with severe allergic disease and shows JAK inhibitors reduce the enhanced STAT6 responses.

125 citationstop 1%

humanstatistical model

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GeneticsProceedings of the National Academy of SciencesPeer-reviewedJan 6, 2021

Negative selection on human genes causing severe inborn errors depends on disease outcome and both the mode and mechanism of inheritance

Franck Rapaport, Bertrand Boisson, Anne Gregor…·Étienne Patin

The paper develops CoNeS to assess negative selection on genes causing severe inborn errors, finding that disease outcome and inheritance mode/mechanism influence selection strength.

87 citationstop 1%

humanstatistical model

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