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.

A rare recurrent missense variant in BMPR2 identified in six individuals, who all present with neurodevelopmental phenotypes including autism spectrum disorder and global developmental delay, is reported and shows that this variant causes neurodevelopmental defects in flies when expressed in neurons or glial cells.

Jung-Wan Mok, Carrie L. Welch, Haley A. Dostalik et al. · American Journal of Human Ge... · 2 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