Sergi Beltrán

机构：Centre for Genomic Regulation, Centro Nacional de Análisis Genómico, Universitat de Barcelona · ORCID：0000-0002-2810-3445

发表论文 322 篇 · 总被引 23276 次 · h-index 55

代表论文

• The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease (2025 · Nature Genetics · 被引 5)
• TREAT: systematic and inclusive selection process of genes for genomic newborn screening as part of the Screen4Care project (2025 · Orphanet Journal of Rare Diseases · 被引 5)
• Mitochondrial DNA disease discovery through evaluation of genotype and phenotype data: The Solve-RD experience (2025 · The American Journal of Human Genetics · 被引 5)
• 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)
• Characterization of snRNA-related neurodevelopmental disorders through the Spanish Undiagnosed Rare Disease Programs (2025 · medRxiv · 被引 1)
• Systematic reanalysis of next-generation sequencing data in 101 neuromuscular disorder families enhances diagnostic yield, reveals intronic variants, and identifies a novel disease gene (2026 · Journal of Neurology)