most citedKMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

119 citations · 120 across the 4 of their papers we have counts for

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cs.AI2026

Teaching agentic AI to generalize expert diagnostic reasoning in rare diseases

Minh-Ha Nguyen, Erica Gray, Bryce A. Schuler +16

Rare disease diagnosis depends on expert reasoning that is scarce and difficult to transfer. Large language models rank the correct disease first in only 35.4% of benchmark cases a…

cs.AI2025★ 1 cited

Teaching large language models to reason like expert diagnosticians

Thomas A. Buckley, Riccardo Conci, Peter G. Brodeur +23

Differential diagnosis is an iterative process that integrates patient information with broader medical knowledge. Clinical case series such as the NEJM Clinicopathologic Conferenc…