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J. Vockley

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Open access Oct 2026

A quantitative disorder-phenotype atlas of inherited metabolic disorders reveals shared symptom spaces and group-specific hotspots.

This first-generation knowledgebase-level atlas quantifies reported disorder-level phenotype architecture rather than patient-level prevalence or natural history rather than patient-level prevalence or natural history and provides a scalable framework for phenotype standardization, diagnostic navigation, targeted curat...

Nenad Blau, J. Vockley, Carlos Ferreira · 0 citations

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