Nicolas Lévy

The paper shows that NUP210L and BAF-L are required for nuclear integrity and microtubule organization during mouse spermatid development.

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.

This study identifies FGD4/FRABIN's role in regulating NRG1/ErbB2/3 signaling and myelination in CMT4H, showing that restoring this pathway with niacin reduces myelin outfoldings.

This study shows that MG132 reduces Progerin levels and improves cellular phenotypes in HGPS-like patient fibroblasts through autophagy and splicing regulation.

The paper systematically assesses the splicing impact of deep exonic missense variants in CAPN3 using minigene assays, revealing that eight variants disrupt splicing and highlight limitations in current computational tools.

CovReport provides a user-friendly tool for generating sequencing coverage summaries to aid in diagnostic reporting and interpretation.

The paper extends the random walk with restart algorithm to multiplex and heterogeneous biological networks to improve disease gene prediction.

The paper identifies biallelic UNC45A mutations as the cause of O2HE syndrome, characterized by cholestasis, congenital diarrhea, hearing loss, and bone fragility.