Author

Thierry Bienvenu

InsermORCID 0000-0002-5953-2728Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1 Molecular Biology· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 4 Research Focus:differential expression· 2 Assay:DNA methylation· 2 Assay:bulk RNA-seq· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:mouse· 1

Frequent Co-Authors

Albert David· 1 shared Alexandre MathieuiD· 1 shared Alexandre PerrieriD· 1 shared Alice GoldenbergiD· 1 shared Allan BayatiD· 1 shared Amélie PitoniD· 1 shared Anne BolandiD· 1 shared Anne‐Marie GuerrotiD· 1 shared

Activity by Year

2019-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 22 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Albert David

Mutual co-authors in cluster

Author profile →

4 papers

Recent·Most cited

Genetic & Genomic MedicinePLoS ONEPeer-reviewedApr 24, 2023

Non-Invasive Prenatal Diagnosis of Single Gene Disorders with enhanced Relative Haplotype Dosage Analysis for diagnostic implementation

Mathilde Pacault, Camille Verebi, Magali Champion…·Juliette Nectoux

This paper introduces eRHDO, an enhanced method for non-invasive prenatal diagnosis of single-gene disorders, achieving high accuracy with no false positives or negatives.

13 citationstop 5%

humanDNA methylation

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

Molecular BiologyNucleic Acids ResearchPeer-reviewedAug 19, 2020

A Point Mutation in the RNA Recognition Motif of CSTF2 Associated with Intellectual Disability in Humans Causes Defects in 3' End Processing

Petar N. Grozdanov, Elahe Masoumzadeh, Vera M. Kalscheuer…·Clinton C. MacDonald

20 citations

humanmouse

Geneticsnpj Genomic MedicinePeer-reviewedJan 21, 2019

Both rare and common genetic variants contribute to autism in the Faroe Islands

Claire S. Leblond, Freddy Cliquet, Coralie Carton-Buonafine…·Thomas Bourgeron

This study identifies both rare and common genetic variants contributing to autism in the Faroe Islands by analyzing SNP array and whole exome sequencing data from 357 individuals.

84 citationstop 2%

humanwhole-exome sequencing