Author

J. Jaworski

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Open access Sep 2026

Genetic variation in macrophage-restricted FOLR2 is associated with neurodevelopmental and reproductive immune phenotypes

Introduction Folate receptor beta (FRβ), encoded by FOLR2, is a cell surface receptor with restricted expression in monocytes and macrophages and is highly expressed at the maternal-fetal interface, yet its genetic contributions to human disease remain unexplored. Methods Given the importance of placental macrophages t...

E. Jasper, J. Jaworski, Yuan Luo et al. · Frontiers in Immunology · 0 citations

Sep 2026

Genetic Determinants of Early Heart Failure in Hypoplastic Left Heart Syndrome: A Prospective NC-DEFINE Study.

BACKGROUND Survivors of hypoplastic left heart syndrome (HLHS), the most severe form of congenital heart disease, are at high risk for heart failure (HF). HF in early life is a major contributor to mortality in this vulnerable population. However, reliable approaches to identify infants at highest risk for early HF are...

B. Balint, Sudeep D. Sunthankar, Gabrielle Monaco et al. · Journal of the American Coll... · 1 citation

Review Open access Aug 2026

TRACE: A FINE-TUNED BIOMEDICAL LANGUAGE MODEL FOR DIRECTIONALLY INFORMED DRUG REPURPOSING FROM TRANSCRIPTOME-WIDE ASSOCIATION STUDIES

TRACE (TWAS-driven Repurposing through AI-assisted Curation of Evidence), a gene- and phenotype-agnostic computational pipeline that accepts a TWAS gene and effect-size direction, and uses a fine-tuned biomedical language model to classify whether the literature supports a direct drug-gene relationship, the mechanism o...

C. O. Otieno, H. Seagle, A. T. Akerele et al. · medRxiv · 0 citations