Camilo Toro

机构：National Institutes of Health, National Human Genome Research Institute, Office of the Director · ORCID：0000-0002-3917-9031

发表论文 304 篇 · 总被引 11191 次 · h-index 57

代表论文

• Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism (2025 · Brain · 被引 7)
• Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations (2025 · Nature Communications · 被引 5)
• Organ Donation for Research Biobanking Among Historically Marginalized Racial and Ethnic Groups (2025 · JAMA Network Open · 被引 4)
• 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)
• Clinicopathological characterization of vacuolar tauopathy associated with VCP D395G (2025 · Alzheimer s & Dementia · 被引 3)