Author

Bénédicte Toussaint

Centre National de la Recherche Scientifique

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 2 Molecular Biology· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 3 Organism:human· 3 Assay:DNA methylation· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Approach:deep learning· 1 Research Focus:gene regulatory network inference· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Amélie BonnefondiD· 3 shared Mehdi DerhourhiiD· 3 shared Philippe FrogueliD· 3 shared Souhila Amanzougarene· 3 shared Amna KhamisiD· 2 shared Emmanuel Vaillant· 2 shared François N. PattouiD· 2 shared Lijiao NingiD· 2 shared

Activity by Year

2022-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 44 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Amélie BonnefondORCID

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Author profile →

3 papers

Recent·Most cited

Molecular BiologybioRxivPreprintOct 10, 2025

Deep learning models reading clinical data and liver omics strongly distinguish NASH from steatosis and suggest new genes involved in liver disease severity

Nicolas Gambardella Le Novère, Smaïn Fettem, Mathilde Boissel…·Amélie Bonnefond

The paper develops a deep learning model combining clinical data, gene expression, and DNA methylation to distinguish NASH from steatosis and identifies new genes involved in liver disease severity.

1 citation

humanbulk RNA-seq

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintFeb 26, 2025

Biallelic variants in SREK1 downregulating SNORD115 and SNORD116 cause a novel Prader-Willi-like syndrome

Sadia Saeed, Anna‐Maria Siegert, Y. C. Loraine Tung…·Giles S.H. Yeo

This study identifies biallelic SREK1 variants causing a Prader-Willi-like syndrome with obesity and hypotonia in consanguineous children.

DOI 10.1101/2025.02.26.24313254

humanwhole-exome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintDec 30, 2022

Epigenetics of PNLIPRP1 in human pancreas reveals a molecular path between type 2 diabetes and pancreatic cancer

Lucas Maurin, Lorella Marselli, Lijiao Ning…·Amna Khamis

The paper identifies hypermethylation of PNLIPRP1 in T2D patients and shows its association with acinar-to-ductal metaplasia and PDAC risk.

1 citation

humanDNA methylation

𝕏 PostBluesky