1 citations · 1 across the 4 of their papers we have counts for
5 papers
Documenting Trofinetide Treatment Phenotypes in Rett Syndrome with a Dual-LLM Consensus Pipeline
Daniel Palacios, Guantong Qi, Mikael Guzman Karlsson +6
Objective: Trofinetide, approved in 2023 as the first Rett syndrome treatment, lacks scalable real-world monitoring because chart review is labor-intensive. We developed a dual lar…
Institution-Specific LLM Prompting Recovers PHI That De-identification Systems and Their Gold Standards Both Miss
Daniel Palacios, Matthew Brady Neeley, Angel Adetomike Otto +6
Secondary use of electronic health records requires de-identification, yet existing systems miss \emph{institutionally situated} protected health information (PHI) such as hospital…
LA-MARRVEL: A Knowledge-Grounded, Language-Aware LLM Framework for Clinically Robust Rare Disease Gene Prioritization
Jaeyeon Lee, Lin Yao, Hyun-Hwan Jeong +1
Rare disease diagnosis requires matching variant-bearing genes to complex patient phenotypes across large and heterogeneous evidence sources. This process remains time-intensive in…
Survey and Improvement Strategies for Gene Prioritization with Large Language Models
Matthew Neeley, Guantong Qi, Guanchu Wang +9
Rare diseases are challenging to diagnose due to limited patient data and genetic diversity. Despite advances in variant prioritization, many cases remain undiagnosed. While large…
Assessing and Enhancing Large Language Models in Rare Disease Question-answering
Guanchu Wang, Junhao Ran, Ruixiang Tang +6
Despite the impressive capabilities of Large Language Models (LLMs) in general medical domains, questions remain about their performance in diagnosing rare diseases. To answer this…