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Author

M. Konyukh

h-index 6 View on Semantic Scholar

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Open access Sep 2026

Genome sequencing improves diagnostic outcomes over panel and exome sequencings in myopathies: findings from the French PFMG2025 initiative

Genome Sequencing showed GS as a valuable and feasible approach allowing the elucidation of complex variants and the discovery of new pathogenic mechanisms in the context of myopathy, as part of a large national scale GS strategy piloted by the French Genomic Medicine Initiative.

Camille Verebi, A. Maino, C. Métay et al. · 0 citations
Review Jul 2026

Knowledge and misconceptions of the French population regarding medical genetics: a survey of 3,000 respondents

Critical gaps in public knowledge in genetics are highlighted, emphasizing the need for improved genetic education, including incorporating genetics into school curricula and launching targeted awareness campaigns to promote informed decision-making.

S. Mercier, F. Petit, M. Misrahi et al. · 0 citations

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