Maria T. Acosta

机构：National Human Genome Research Institute · ORCID：0000-0001-8914-7401

发表论文 186 篇 · 总被引 3985 次 · h-index 35

代表论文

• Retrospective assessment of clinical global impression of severity and change in GM1 gangliosidosis: a tool to score natural history data in rare disease cohorts (2025 · Orphanet Journal of Rare Diseases · 被引 11)
• An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser (2025 · Genome Medicine · 被引 10)
• A Case for Automated Segmentation of MRI Data in Neurodegenerative Diseases: Type II GM1 Gangliosidosis (2025 · NeuroSci · 被引 6)
• Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations (2025 · Nature Communications · 被引 5)
• Late-onset GM2 gangliosidosis: magnetic resonance imaging, diffusion tensor imaging, and correlational fiber tractography differentiate Tay–Sachs and Sandhoff diseases (2025 · Journal of Neurology · 被引 4)
• Biallelic LAMP3 variants in 5 families with interstitial lung disease: Evidence of a disease-gene association (2026 · Genetics in Medicine · 被引 3)