Author

Emmanuel Vaillant

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· 1 Molecular Biology· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Amélie BonnefondiD· 2 shared Bénédicte Toussaint· 2 shared Mehdi DerhourhiiD· 2 shared Philippe FrogueliD· 2 shared Souhila Amanzougarene· 2 shared Amna KhamisiD· 1 shared Anna‐Maria SiegertiD· 1 shared Anthony Peter GoldstoneiD· 1 shared

Activity by Year

2025-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 39 mutual co-author links

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2 shared papersMolecular Biology

Amélie BonnefondORCID

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2 papers

Recent·Most cited

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, Lijiao Ning, Violeta Raverdy, Marwa Afnouch, Souhila Amanzougarene, Mehdi Derhourhi, Bénédicte Toussaint, Emmanuel Vaillant, Amna Khamis, Philippe Lefèbvre, Bart Staels, François N. Pattou, Philippe Froguel, 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.

bioRxiv · Oct 10, 2025 · PreprintMolecular Biology

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

Sadia Saeed, Anna‐Maria Siegert, Y. C. Loraine Tung, Roohia Khanam, Qasim M. Janjua, Jaida Manzoor, Mehdi Derhourhi, Bénédicte Toussaint, Brian Lam, Sherine Awad Mahmoud, Emmanuel Vaillant, Emmanuel Buse Falay, Souhila Amanzougarene, Hina Ayesha, Waqas Imran Khan, , Giles S.H. Yeo

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

medRxiv · Feb 26, 2025 · PreprintGenetic & Genomic Medicine