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PhenoML publications

Research & publications
built on PhenoML.

Technology teams use PhenoML to turn unstructured clinical records into structured, research-ready data.

  • Powered by PhenoMLPresented ·
    ASHG 2026 · Poster

    Leveraging Longitudinal Real-World Data to Characterize Seizure Phenotypes in CSNK2A1-Related Disorder

    GeneDx · M. Morrow, H. Cui, R. Ben-Shachar

    PhenoML's AI pipeline structured unstructured clinical notes into the OMOP common data model to extract phenotypes beyond seizures.

    GeneDx poster 1106 at ASHG 2026: Leveraging Longitudinal Real-World Data to Characterize Seizure Phenotypes in CSNK2A1-Related Disorder
    Leveraging Longitudinal Real-World Data to Characterize Seizure Phenotypes in CSNK2A1-Related Disorder
    GeneDx at ASHG 2026
  • PhenoML researchPresented ·
    National Library of Medicine · Videocast

    Celebrating 40 Years of NLM's Unified Medical Language System

    Watch on NIH VideoCast
  • PhenoML researchIn preparation
    Manuscript

    Evaluation of PhenoCR Performance on HPO Code Detection

  • Published work that uses PhenoML?

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