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Author

Erica Gray

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Sep 2026

A rare recurring gain-of-function variant in BMPR2 causes neurodevelopmental phenotypes in humans and flies.

Bone morphogenetic protein receptor type 2 (BMPR2) encodes an evolutionarily conserved serine/threonine kinase that phosphorylates type-1 BMP receptors to mediate intercellular communication upon ligand binding. Loss-of-function variants in BMPR2 are known to cause pulmonary arterial hypertension and other cardiovascul...

Jung-Wan Mok, Carrie L. Welch, Haley A. Dostalik et al. · 0 citations
#artificial intelligence Preprint Jun 2026

Teaching agentic AI to learn expert reasoning for rare disease diagnosis

Rare disease diagnosis depends on expert reasoning that is scarce and difficult to transfer; off-the-shelf large language models (LLMs) rank the correct disease first in only 35.4% of benchmark cases. Here we show that this expert reasoning can be converted into a scalable AI capability through a governed learning proc...

Minh-Ha Nguyen, Erica Gray, B. Schuler et al. · 0 citations

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