Author

Pascal Laforêt

Assistance Publique – Hôpitaux de ParisORCID 0000-0002-4489-4718Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Assay:metabolomics· 1 Assay:proteomics· 1

Frequent Co-Authors

A. Madelaine· 1 shared Aleksandra Nadaj‐PaklezaiD· 1 shared Anaïs Chanut· 1 shared Annamaria Molon· 1 shared Anne‐Sophie ArmandiD· 1 shared Apolline ImbardiD· 1 shared Arnaud Hubas· 1 shared Aurélien PerriniD· 1 shared

Activity by Year

2022-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

A. Madelaine

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintMar 3, 2026

Novel variants in ryanodine receptor type 3 predispose to acute rhabdomyolysis due to impaired autophagy

Hortense de Calbiac, Laure Caccavelli, Solène Renault…·Pascale de Lonlay

This study identifies rare RYR3 variants causing recurrent rhabdomyolysis by impairing autophagy and mitochondrial function, highlighting RyR3's role in muscle stress adaptation.

DOI 10.64898/2026.02.27.26345848

humanzebrafish

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Genetic & Genomic MedicineInternational Journal of Molecular SciencesPeer-reviewedJul 31, 2022

Objective evaluation of clinical actionability for genes involved in myopathies: 63 genes with a medical value for patient care

Maude Vecten, Emmanuelle Pion, Marc Bartoli…·Mireille Cossée

The paper evaluates the clinical actionability of 63 myopathy-related genes using ClinGen criteria, finding that only 8 of the top 36 genes had prior ClinGen scores.

3 citations

humanstatistical model

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