Gisèle Bonne

机构：Inserm, Sorbonne Université, Institut de Myologie, Centre de Recherche en Myologie · ORCID：0000-0002-2516-3258

发表论文 1018 篇 · 总被引 18726 次 · h-index 70

代表论文

• Location of LMNA Variants and Clinical Outcomes in Cardiomyopathy (2025 · JAMA Cardiology · 被引 17)
• The 2025 version of the gene table of neuromuscular disorders (nuclear genome) (2024 · Neuromuscular Disorders · 被引 11)
• Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy (2025 · Genetics in Medicine · 被引 5)
• Laminopathies: natural history and risk prediction of heart failure (2026 · European Heart Journal · 被引 4)
• Comparative Analysis of CRISPR/Cas9-targeted Nanopore Sequencing Approaches in Repeat Expansion Disorders (2025 · Genomics Proteomics & Bioinformatics · 被引 4)
• The burden of TTN variants in the genomic era: Analysis of 18,462 individuals from the Solve-RD consortium and general recommendations (2025 · Genetics in Medicine · 被引 3)