Gisèle Bonne

The p.H222P lamin A/C mutation induces heart failure via impaired mitochondrial calcium uptake in human cardiac laminopathy

This study investigates how the LMNA p.H222P mutation causes heart failure by impairing mitochondrial calcium uptake in human cardiac cells.

Comparative analysis of CRISPR/Cas9-targeted nanopore sequencing approaches in repeat expansion disorders

This study compares CRISPR/Cas9-targeted nanopore sequencing approaches for characterizing repeat expansions in DM1 and OPDM, showing the impact of basecalling strategies and identifying somatic mosaicism and hypermethylation.

Advanced human iPSC-based modelling of LMNA-related congenital muscular dystrophy enables development of targeted genetic therapies for muscle laminopathies

This paper develops a human iPSC-based model of L-CMD to test gene editing strategies for muscle laminopathies, showing partial reversal of disease phenotypes with precise mutation correction.

Canonical nuclear envelope protein emerin regulates structure and integrity of the erythrocyte plasma membrane

This study shows emerin, a nuclear envelope protein, is expressed in red blood cells and regulates membrane structure and function, with mutations linked to RBC phenotypes like MCV.

Cardiac fibroblasts counterbalance cardiomyocytes in LMNA cardiomyopathy pathogenesis

The paper investigates the role of lamin A/C in cardiac fibroblasts and shows that mutations affect fibroblast function, influencing disease progression in LMNA cardiomyopathy.

Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes

This study identifies structural variants in 6224 rare disease exomes, finding 0.4% diagnostic yield with 8 previously undetected pathogenic SVs.

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

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.