Accès ouvert
2026
article
OpenAlex
Elizabeth A. Jasper, James Jaworski, Yuan Luo, Bahram Namjou Khales et autres
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 …
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Accès ouvert
2026
conference-abstract
OpenAlex
Priya Marathe, Laura Golfinopoulos, Sabrina A. Suckiel, Jacqueline A. Odgis et autres
While monogenic familial hypercholesterolemia (FH) is recognized as a cause of severe hypercholesterolemia (HC), elevated LDL-C can also arise from polygenic inheritance. Polygenic risk scores (PRS) offer an opportunity to identify patients at increased risk of HC who may otherwise be missed. …
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Accès ouvert
2025
preprint
OpenAlex
Kavishwar B. Wagholikar, Jennifer A. Pacheco, Allan Gordon, Atlas Khan et autres
Pragmatic clinical trials (PCTs) evaluate interventions in real-world settings, often using electronic health records (EHRs) for efficient data collection. We report on the challenges in performing EHR analysis of healthcare provider orders in a PCT within the eMERGE consortium, which investigates the …
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