Ana Rath

机构：Inserm, Orphanet · ORCID：0000-0003-4308-6337

发表论文 146 篇 · 总被引 10503 次 · h-index 36

代表论文

• The Human Phenotype Ontology in 2024: phenotypes around the world (2023 · Nucleic Acids Research · 被引 421)
• The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources (2022 · Genetics in Medicine · 被引 170)
• Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases (2021 · European Journal of Human Genetics · 被引 106)
• Mondo: Unifying diseases for the world, by the world (2022 · medRxiv · 被引 104)
• Solving patients with rare diseases through programmatic reanalysis of genome-phenome data (2021 · European Journal of Human Genetics · 被引 75)
• The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases (2022 · Human Mutation · 被引 64)